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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
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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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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

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