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    PHLDB1 pleckstrin homology like domain family B member 1 [ Homo sapiens (human) ]

    Gene ID: 23187, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PHLDB1provided by HGNC
    Official Full Name
    pleckstrin homology like domain family B member 1provided by HGNC
    Primary source
    HGNC:HGNC:23697
    See related
    Ensembl:ENSG00000019144 MIM:612834; AllianceGenome:HGNC:23697
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LL5A; OI23; LL5alpha
    Summary
    Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in several cellular components, including basal cortex; cytosol; and intercellular bridge. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 23.2), brain (RPKM 15.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PHLDB1 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118606436..118658028)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118625712..118677249)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118477151..118528738)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 46 Neighboring gene uncharacterized LOC124902764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5595 Neighboring gene archain 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:118461541-118461751 Neighboring gene RNA, U6 small nuclear 1157, pseudogene Neighboring gene uncharacterized LOC124902765 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3949 Neighboring gene Sharpr-MPRA regulatory region 10010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118479501-118480175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118480176-118480849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118486166-118486683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118486684-118487200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118488753-118489268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118501544-118502052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118502053-118502560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118505587-118506258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118514693-118515192 Neighboring gene microRNA 6716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118529141-118529690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118529691-118530240 Neighboring gene trehalase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118549589-118550250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118550251-118550910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118558272-118558787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118558788-118559302 Neighboring gene uncharacterized LOC105369519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5597 Neighboring gene trehalase pseudogene 1 Neighboring gene RNA, U6 small nuclear 376, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The PHLDB1 rs498872 (11q23.3) polymorphism and glioma risk: A meta-analysis. Gao X, et al. Asia Pac J Clin Oncol, 2015 Dec. PMID 24935770
    2. A PHLDB1 variant associated with the nonfunctional pituitary adenoma. Kim LH, et al. J Neurooncol, 2019 Apr. PMID 30868356
    3. Pleckstrin homology-like domain family B member 1 rs498872 polymorphism and glioma risk in Chinese Han population. Zhang JW, et al. Cell Mol Biol (Noisy-le-grand), 2017 Aug 30. PMID 28886307
    4. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. Tuysuz B, et al. J Med Genet, 2023 Aug. PMID 36543534
    5. Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility. Baskin R, et al. Sci Rep, 2015 Nov 27. PMID 26610392, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
      Title: Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
    2. Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus.
      Title: Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus.
    3. Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk.
      Title: Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk.
    4. The rs6010620 (RTEL1), rs4977756 (CDKN2A/B), and rs498872 (PHLDB1) are associated with glioma risk in the Portuguese population. The GA genotype of the rs498872 (PHLDB1) was associated with an increased risk of gliomas (OR 2.92) and glioblastomas (OR 2.39). In addition, the genotype AA of the rs498872 (PHLDB1) was associated with poor overall survival of gliomas patients (AA vs. GA, p = 0.037).
      Title: Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients.
    5. this paper shows that PHLDB1 gene polymorphism is associated with IgA nephropathy risk in Chinese Han population
      Title: 3'UTR variants of TNS3, PHLDB1, NTN4, and GNG2 genes are associated with IgA nephropathy risk in Chinese Han population.
    6. findings suggest that genetic variation of PHLDB1 may be associated with the risk of nonfunctional pituitary adenoma
      Title: A PHLDB1 variant associated with the nonfunctional pituitary adenoma.
    7. The results indicate that liprin-alpha1, LL5 and ERC1 define a novel dynamic membrane-less compartment that regulates matrix degradation by affecting invadosome motility.
      Title: Identification of a membrane-less compartment regulating invadosome function and motility.
    8. The rs498872 PHLDB1 polymorphism was significantly associated with glioma risk in Chinese Han population.
      Title: Pleckstrin homology-like domain family B member 1 rs498872 polymorphism and glioma risk in Chinese Han population.
    9. Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.
      Title: Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.
    10. PHLDB1 rs498872 polymorphism was associated with increased risk of glioma.
      Title: The PHLDB1 rs498872 (11q23.3) polymorphism and glioma risk: A meta-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Osteogenesis imperfecta, type 23
    MedGen: C5882757 OMIM: 620639 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    EBI GWAS Catalog
    Chromosome 7p11.2 (EGFR) variation influences glioma risk.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association study identifies five susceptibility loci for glioma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00141, FLJ90266, KIAA0638, MGC111531, DKFZp686H039, DKFZp686O24210

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microtubule cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in basal cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in basal cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology-like domain family B member 1
    Names
    protein LL5-alpha

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001144758.3 → NP_001138230.1  pleckstrin homology-like domain family B member 1 isoform a

      See identical proteins and their annotated locations for NP_001138230.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB014538, AI917888, AK074918, AK125783, BX489377
      Consensus CDS
      CCDS8401.1
      UniProtKB/Swiss-Prot
      B0YJ63, B0YJ64, O75133, Q4KMF8, Q86UU1, Q8TEQ2
      UniProtKB/TrEMBL
      Q5W9G0
      Related
      ENSP00000469820.1, ENST00000600882.6
      Conserved Domains (6) summary
      cd14673
      Location:1255 → 1370
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1258 → 1365
      PH; PH domain
      pfam00498
      Location:64 → 124
      FHA; FHA domain
      pfam14988
      Location:728 → 931
      DUF4515; Domain of unknown function (DUF4515)
      pfam15223
      Location:469 → 552
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:715 → 812
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    2. NM_001144759.3 → NP_001138231.1  pleckstrin homology-like domain family B member 1 isoform b

      See identical proteins and their annotated locations for NP_001138231.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter, differs in the 5' UTR, and lacks two alternate in-frame exons in the coding region, compared to variant 1. The resulting isoform (b) lacks two internal segments, compared to isoform a.
      Source sequence(s)
      AB014538, AI917888, AK074918, AK125783, BX489377
      Consensus CDS
      CCDS44750.1
      UniProtKB/TrEMBL
      Q5W9G0
      Related
      ENSP00000348359.5, ENST00000356063.9
      Conserved Domains (7) summary
      COG1579
      Location:726 → 930
      COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]
      cd14673
      Location:1208 → 1312
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1211 → 1307
      PH; PH domain
      pfam00498
      Location:64 → 124
      FHA; FHA domain
      pfam10473
      Location:676 → 803
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:469 → 552
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:715 → 812
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    3. NM_015157.4 → NP_055972.1  pleckstrin homology-like domain family B member 1 isoform a

      See identical proteins and their annotated locations for NP_055972.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AB094090, AI917888, AK125783, AP000941
      Consensus CDS
      CCDS8401.1
      UniProtKB/Swiss-Prot
      B0YJ63, B0YJ64, O75133, Q4KMF8, Q86UU1, Q8TEQ2
      UniProtKB/TrEMBL
      Q5W9G0
      Related
      ENSP00000354498.2, ENST00000361417.6
      Conserved Domains (6) summary
      cd14673
      Location:1255 → 1370
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1258 → 1365
      PH; PH domain
      pfam00498
      Location:64 → 124
      FHA; FHA domain
      pfam14988
      Location:728 → 931
      DUF4515; Domain of unknown function (DUF4515)
      pfam15223
      Location:469 → 552
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:715 → 812
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      118606436..118658028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542709.3 → XP_011541011.1  pleckstrin homology-like domain family B member 1 isoform X8

      See identical proteins and their annotated locations for XP_011541011.1

      Conserved Domains (7) summary
      cd14673
      Location:1418 → 1533
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1421 → 1528
      PH; PH domain
      pfam00498
      Location:64 → 124
      FHA; FHA domain
      pfam10473
      Location:676 → 819
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:469 → 552
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:739 → 940
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:715 → 816
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    2. XM_047426640.1 → XP_047282596.1  pleckstrin homology-like domain family B member 1 isoform X32

    3. XM_047426637.1 → XP_047282593.1  pleckstrin homology-like domain family B member 1 isoform X30

    4. XM_047426638.1 → XP_047282594.1  pleckstrin homology-like domain family B member 1 isoform X31

    5. XM_047426639.1 → XP_047282595.1  pleckstrin homology-like domain family B member 1 isoform X32

    6. XM_047426641.1 → XP_047282597.1  pleckstrin homology-like domain family B member 1 isoform X33

    7. XM_011542708.4 → XP_011541010.1  pleckstrin homology-like domain family B member 1 isoform X8

      See identical proteins and their annotated locations for XP_011541010.1

      Conserved Domains (7) summary
      cd14673
      Location:1418 → 1533
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1421 → 1528
      PH; PH domain
      pfam00498
      Location:64 → 124
      FHA; FHA domain
      pfam10473
      Location:676 → 819
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:469 → 552
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:739 → 940
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:715 → 816
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    8. XM_005271474.6 → XP_005271531.3  pleckstrin homology-like domain family B member 1 isoform X29

    9. XM_011542703.3 → XP_011541005.1  pleckstrin homology-like domain family B member 1 isoform X1

      Conserved Domains (6) summary
      cd14673
      Location:1464 → 1579
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1467 → 1574
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl23750
      Location:785 → 886
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    10. XM_011542704.3 → XP_011541006.1  pleckstrin homology-like domain family B member 1 isoform X3

      Conserved Domains (6) summary
      cd14673
      Location:1464 → 1568
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1467 → 1563
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl23750
      Location:785 → 886
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    11. XM_011542705.3 → XP_011541007.1  pleckstrin homology-like domain family B member 1 isoform X4

      Conserved Domains (6) summary
      cd14673
      Location:1449 → 1564
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1452 → 1559
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl23750
      Location:785 → 886
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    12. XM_011542706.3 → XP_011541008.1  pleckstrin homology-like domain family B member 1 isoform X5

      Conserved Domains (6) summary
      cd14673
      Location:1449 → 1553
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1452 → 1548
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl23750
      Location:785 → 886
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    13. XM_011542710.3 → XP_011541012.1  pleckstrin homology-like domain family B member 1 isoform X10

      Conserved Domains (4) summary
      PHA03307
      Location:198 → 592
      PHA03307; transcriptional regulator ICP4; Provisional
      COG1196
      Location:754 → 986
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:85 → 180
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd14673
      Location:1407 → 1522
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain

    14. XM_017017409.2 → XP_016872898.1  pleckstrin homology-like domain family B member 1 isoform X12

    15. XM_006718797.4 → XP_006718860.1  pleckstrin homology-like domain family B member 1 isoform X9

      Conserved Domains (7) summary
      cd14673
      Location:1416 → 1531
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1419 → 1526
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:785 → 986
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:761 → 862
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    16. XM_017017408.2 → XP_016872897.1  pleckstrin homology-like domain family B member 1 isoform X11

    17. XM_006718798.4 → XP_006718861.1  pleckstrin homology-like domain family B member 1 isoform X14

      Conserved Domains (7) summary
      cd14673
      Location:1359 → 1474
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1362 → 1469
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:785 → 986
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:761 → 862
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    18. XM_006718799.4 → XP_006718862.1  pleckstrin homology-like domain family B member 1 isoform X15

      Conserved Domains (7) summary
      cd14673
      Location:1344 → 1459
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1347 → 1454
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:785 → 986
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:761 → 862
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    19. XM_006718800.4 → XP_006718863.1  pleckstrin homology-like domain family B member 1 isoform X16

      Conserved Domains (7) summary
      cd14673
      Location:1344 → 1448
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1347 → 1443
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:785 → 986
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:761 → 862
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    20. XM_006718801.4 → XP_006718864.1  pleckstrin homology-like domain family B member 1 isoform X18

      Conserved Domains (7) summary
      cd14673
      Location:1312 → 1427
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1315 → 1422
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:785 → 986
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:761 → 862
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    21. XM_047426632.1 → XP_047282588.1  pleckstrin homology-like domain family B member 1 isoform X21

    22. XM_006718802.4 → XP_006718865.1  pleckstrin homology-like domain family B member 1 isoform X22

      Conserved Domains (7) summary
      cd14673
      Location:1297 → 1412
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1300 → 1407
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:785 → 986
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:761 → 862
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    23. XM_006718803.4 → XP_006718866.1  pleckstrin homology-like domain family B member 1 isoform X24

      Conserved Domains (7) summary
      cd14673
      Location:1297 → 1401
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1300 → 1396
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 865
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl02488
      Location:785 → 986
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl19107
      Location:761 → 862
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    24. XM_011542707.3 → XP_011541009.1  pleckstrin homology-like domain family B member 1 isoform X6

      Conserved Domains (8) summary
      cd14673
      Location:1421 → 1536
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1424 → 1531
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 849
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cd16269
      Location:819 → 832
      GBP_C; coiled coil [structural motif]
      cl02488
      Location:758 → 943
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl20817
      Location:760 → 847
      GBP_C; Guanylate-binding protein, C-terminal domain

    25. XM_017017410.2 → XP_016872899.1  pleckstrin homology-like domain family B member 1 isoform X13

    26. XM_005271468.4 → XP_005271525.1  pleckstrin homology-like domain family B member 1 isoform X17

      Conserved Domains (6) summary
      cd14673
      Location:1316 → 1431
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1319 → 1426
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam14988
      Location:774 → 977
      DUF4515; Domain of unknown function (DUF4515)
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:761 → 858
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    27. XM_005271469.4 → XP_005271526.1  pleckstrin homology-like domain family B member 1 isoform X19

      Conserved Domains (6) summary
      cd14673
      Location:1316 → 1420
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1319 → 1415
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam14988
      Location:774 → 977
      DUF4515; Domain of unknown function (DUF4515)
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:761 → 858
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    28. XM_005271470.4 → XP_005271527.1  pleckstrin homology-like domain family B member 1 isoform X20

      Conserved Domains (6) summary
      cd14673
      Location:1301 → 1416
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1304 → 1411
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam14988
      Location:774 → 977
      DUF4515; Domain of unknown function (DUF4515)
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:761 → 858
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    29. XM_005271471.4 → XP_005271528.1  pleckstrin homology-like domain family B member 1 isoform X23

      Conserved Domains (6) summary
      cd14673
      Location:1301 → 1405
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1304 → 1400
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam14988
      Location:774 → 977
      DUF4515; Domain of unknown function (DUF4515)
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:761 → 858
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    30. XM_005271472.4 → XP_005271529.1  pleckstrin homology-like domain family B member 1 isoform X26

      Conserved Domains (7) summary
      COG1579
      Location:772 → 976
      COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]
      cd14673
      Location:1269 → 1384
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1272 → 1379
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 849
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:761 → 858
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    31. XM_047426634.1 → XP_047282590.1  pleckstrin homology-like domain family B member 1 isoform X44

    32. XM_005271473.4 → XP_005271530.1  pleckstrin homology-like domain family B member 1 isoform X28

      Conserved Domains (7) summary
      COG1579
      Location:772 → 976
      COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]
      cd14673
      Location:1254 → 1369
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1257 → 1364
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:722 → 849
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:515 → 598
      DUF4584; Domain of unknown function (DUF4584)
      cl19107
      Location:761 → 858
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    33. XM_005277680.4 → XP_005277737.1  pleckstrin homology-like domain family B member 1 isoform X2

      Conserved Domains (6) summary
      cd14673
      Location:1463 → 1578
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:1466 → 1573
      PH; PH domain
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam10473
      Location:721 → 864
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam15223
      Location:514 → 597
      DUF4584; Domain of unknown function (DUF4584)
      cl23750
      Location:784 → 885
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    34. XM_047426633.1 → XP_047282589.1  pleckstrin homology-like domain family B member 1 isoform X25

    35. XM_017017407.2 → XP_016872896.1  pleckstrin homology-like domain family B member 1 isoform X7

    36. XM_047426635.1 → XP_047282591.1  pleckstrin homology-like domain family B member 1 isoform X27

    37. XM_047426636.1 → XP_047282592.1  pleckstrin homology-like domain family B member 1 isoform X45

    38. XM_047426648.1 → XP_047282604.1  pleckstrin homology-like domain family B member 1 isoform X40

    39. XM_005271475.4 → XP_005271532.1  pleckstrin homology-like domain family B member 1 isoform X41

      Conserved Domains (2) summary
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam13863
      Location:760 → 840
      DUF4200; Domain of unknown function (DUF4200)

    40. XM_017017411.2 → XP_016872900.1  pleckstrin homology-like domain family B member 1 isoform X41

      Conserved Domains (2) summary
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam13863
      Location:760 → 840
      DUF4200; Domain of unknown function (DUF4200)

    41. XM_011542714.3 → XP_011541016.1  pleckstrin homology-like domain family B member 1 isoform X42

      Conserved Domains (2) summary
      pfam00498
      Location:110 → 170
      FHA; FHA domain
      pfam13863
      Location:760 → 839
      DUF4200; Domain of unknown function (DUF4200)

    42. XM_047426645.1 → XP_047282601.1  pleckstrin homology-like domain family B member 1 isoform X37

    43. XM_047426642.1 → XP_047282598.1  pleckstrin homology-like domain family B member 1 isoform X34

    44. XM_047426647.1 → XP_047282603.1  pleckstrin homology-like domain family B member 1 isoform X39

    45. XM_047426644.1 → XP_047282600.1  pleckstrin homology-like domain family B member 1 isoform X36

      Related
      ENST00000532517.5

    46. XM_047426646.1 → XP_047282602.1  pleckstrin homology-like domain family B member 1 isoform X38

    47. XM_047426643.1 → XP_047282599.1  pleckstrin homology-like domain family B member 1 isoform X35

    48. XM_011542715.4 → XP_011541017.1  pleckstrin homology-like domain family B member 1 isoform X43

      UniProtKB/TrEMBL
      Q96D60
      Related
      ENST00000614369.4
      Conserved Domains (3) summary
      cd14673
      Location:610 → 714
      PH_PHLDB1_2; Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain
      pfam00169
      Location:613 → 709
      PH; PH domain
      cl19107
      Location:117 → 214
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RNA

    1. XR_947813.3 RNA Sequence

    2. XR_007062463.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      118625712..118677249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368149.1 → XP_054224124.1  pleckstrin homology-like domain family B member 1 isoform X8

    2. XM_054368173.1 → XP_054224148.1  pleckstrin homology-like domain family B member 1 isoform X30

    3. XM_054368174.1 → XP_054224149.1  pleckstrin homology-like domain family B member 1 isoform X31

    4. XM_054368175.1 → XP_054224150.1  pleckstrin homology-like domain family B member 1 isoform X32

    5. XM_054368177.1 → XP_054224152.1  pleckstrin homology-like domain family B member 1 isoform X33

    6. XM_054368148.1 → XP_054224123.1  pleckstrin homology-like domain family B member 1 isoform X8

    7. XM_054368176.1 → XP_054224151.1  pleckstrin homology-like domain family B member 1 isoform X32

    8. XM_054368171.1 → XP_054224146.1  pleckstrin homology-like domain family B member 1 isoform X29

    9. XM_054368141.1 → XP_054224116.1  pleckstrin homology-like domain family B member 1 isoform X1

    10. XM_054368143.1 → XP_054224118.1  pleckstrin homology-like domain family B member 1 isoform X3

    11. XM_054368144.1 → XP_054224119.1  pleckstrin homology-like domain family B member 1 isoform X4

    12. XM_054368145.1 → XP_054224120.1  pleckstrin homology-like domain family B member 1 isoform X5

    13. XM_054368151.1 → XP_054224126.1  pleckstrin homology-like domain family B member 1 isoform X10

    14. XM_054368153.1 → XP_054224128.1  pleckstrin homology-like domain family B member 1 isoform X12

    15. XM_054368150.1 → XP_054224125.1  pleckstrin homology-like domain family B member 1 isoform X9

    16. XM_054368152.1 → XP_054224127.1  pleckstrin homology-like domain family B member 1 isoform X11

    17. XM_054368155.1 → XP_054224130.1  pleckstrin homology-like domain family B member 1 isoform X14

    18. XM_054368156.1 → XP_054224131.1  pleckstrin homology-like domain family B member 1 isoform X15

    19. XM_054368157.1 → XP_054224132.1  pleckstrin homology-like domain family B member 1 isoform X16

    20. XM_054368159.1 → XP_054224134.1  pleckstrin homology-like domain family B member 1 isoform X18

    21. XM_054368162.1 → XP_054224137.1  pleckstrin homology-like domain family B member 1 isoform X21

    22. XM_054368163.1 → XP_054224138.1  pleckstrin homology-like domain family B member 1 isoform X22

    23. XM_054368165.1 → XP_054224140.1  pleckstrin homology-like domain family B member 1 isoform X24

    24. XM_054368146.1 → XP_054224121.1  pleckstrin homology-like domain family B member 1 isoform X6

    25. XM_054368154.1 → XP_054224129.1  pleckstrin homology-like domain family B member 1 isoform X13

    26. XM_054368158.1 → XP_054224133.1  pleckstrin homology-like domain family B member 1 isoform X17

    27. XM_054368160.1 → XP_054224135.1  pleckstrin homology-like domain family B member 1 isoform X19

    28. XM_054368161.1 → XP_054224136.1  pleckstrin homology-like domain family B member 1 isoform X20

    29. XM_054368164.1 → XP_054224139.1  pleckstrin homology-like domain family B member 1 isoform X23

    30. XM_054368167.1 → XP_054224142.1  pleckstrin homology-like domain family B member 1 isoform X26

    31. XM_054368170.1 → XP_054224145.1  pleckstrin homology-like domain family B member 1 isoform X28

    32. XM_054368142.1 → XP_054224117.1  pleckstrin homology-like domain family B member 1 isoform X2

    33. XM_054368166.1 → XP_054224141.1  pleckstrin homology-like domain family B member 1 isoform X25

    34. XM_054368147.1 → XP_054224122.1  pleckstrin homology-like domain family B member 1 isoform X7

    35. XM_054368169.1 → XP_054224144.1  pleckstrin homology-like domain family B member 1 isoform X27

    36. XM_054368184.1 → XP_054224159.1  pleckstrin homology-like domain family B member 1 isoform X40

    37. XM_054368186.1 → XP_054224161.1  pleckstrin homology-like domain family B member 1 isoform X41

    38. XM_054368185.1 → XP_054224160.1  pleckstrin homology-like domain family B member 1 isoform X41

    39. XM_054368187.1 → XP_054224162.1  pleckstrin homology-like domain family B member 1 isoform X42

    40. XM_054368168.1 → XP_054224143.1  pleckstrin homology-like domain family B member 1 isoform X46

    41. XM_054368172.1 → XP_054224147.1  pleckstrin homology-like domain family B member 1 isoform X47

    42. XM_054368181.1 → XP_054224156.1  pleckstrin homology-like domain family B member 1 isoform X37

    43. XM_054368178.1 → XP_054224153.1  pleckstrin homology-like domain family B member 1 isoform X34

    44. XM_054368183.1 → XP_054224158.1  pleckstrin homology-like domain family B member 1 isoform X39

    45. XM_054368180.1 → XP_054224155.1  pleckstrin homology-like domain family B member 1 isoform X36

    46. XM_054368182.1 → XP_054224157.1  pleckstrin homology-like domain family B member 1 isoform X38

    47. XM_054368179.1 → XP_054224154.1  pleckstrin homology-like domain family B member 1 isoform X35

    48. XM_054368188.1 → XP_054224163.1  pleckstrin homology-like domain family B member 1 isoform X43

    RNA

    1. XR_008488368.1 RNA Sequence

    2. XR_008488367.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UU1.1 GenPept UniProtKB/Swiss-Prot:Q86UU1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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