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    KANK1 KN motif and ankyrin repeat domains 1 [ Homo sapiens (human) ]

    Gene ID: 23189, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KANK1provided by HGNC
    Official Full Name
    KN motif and ankyrin repeat domains 1provided by HGNC
    Primary source
    HGNC:HGNC:19309
    See related
    Ensembl:ENSG00000107104 MIM:607704; AllianceGenome:HGNC:19309
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KANK; CPSQ2; ANKRD15
    Summary
    The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in esophagus (RPKM 11.7), heart (RPKM 11.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KANK1 in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (470295..746103)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (469752..745414)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (470295..746103)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 8 Neighboring gene uncharacterized LOC124902108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:469879-470404 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:477887-478386 Neighboring gene DOCK8 antisense RNA 2 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19725 Neighboring gene ribosomal protein L12 pseudogene 25 Neighboring gene family with sequence similarity 217 member A pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:537214-537426 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:557803-558354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:574431-575270 Neighboring gene RNA, U6 small nuclear 1327, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:621337-622536 Neighboring gene MPRA-validated peak7200 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:671014-671514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:671515-672015 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:673911-674631 Neighboring gene phosphatidylinositol 4,5-bisphosphate 5-phosphatase A-like Neighboring gene eukaryotic translation initiation factor 1 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:737889-739088 Neighboring gene uncharacterized LOC124902109 Neighboring gene Sharpr-MPRA regulatory region 15053 Neighboring gene uncharacterized LOC105375949

    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. Upregulation of the Kank1 gene inhibits human lung cancer progression in vitro and in vivo. Gu Y, et al. Oncol Rep, 2018 Sep. PMID 29956815
    2. Familial KANK1 deletion that does not follow expected imprinting pattern. Vanzo RJ, et al. Eur J Med Genet, 2013 May. PMID 23454270
    3. Upregulation of the Kank1 gene-induced brain glioma apoptosis and blockade of the cell cycle in G0/G1 phase. Guo X, et al. Int J Oncol, 2014 Mar. PMID 24399197
    4. Kank1 reexpression induced by 5-Aza-2'-deoxycytidine suppresses nasopharyngeal carcinoma cell proliferation and promotes apoptosis. Luo FY, et al. Int J Clin Exp Pathol, 2015. PMID 25973051, Free PMC Article
    5. In vivo and in vitro inhibition of human gastric cancer progress by upregulating Kank1 gene. Chen T, et al. Oncol Rep, 2017 Sep. PMID 28731169

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and Characterization of the Roles of circCASP9 in Gastric Cancer Based on a circRNA-miRNA-mRNA Regulatory Network.
      Title: Identification and Characterization of the Roles of circCASP9 in Gastric Cancer Based on a circRNA-miRNA-mRNA Regulatory Network.
    2. TRAIP modulates the IGFBP3/AKT pathway to enhance the invasion and proliferation of osteosarcoma by promoting KANK1 degradation.
      Title: TRAIP modulates the IGFBP3/AKT pathway to enhance the invasion and proliferation of osteosarcoma by promoting KANK1 degradation.
    3. KANK family proteins in cancer.
      Title: KANK family proteins in cancer.
    4. Long non-coding RNA CASC2 enhances cisplatin sensitivity in oral squamous cell cancer cells by the miR-31-5p/KANK1 axis.
      Title: Long non-coding RNA CASC2 enhances cisplatin sensitivity in oral squamous cell cancer cells by the miR-31-5p/KANK1 axis.
    5. KANK1 regulates paclitaxel resistance in lung adenocarcinoma A549 cells.
      Title: KANK1 regulates paclitaxel resistance in lung adenocarcinoma A549 cells.
    6. KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas.
      Title: KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas.
    7. Aberrant Kank1 expression regulates YAP to promote apoptosis and inhibit proliferation in OSCC.
      Title: Aberrant Kank1 expression regulates YAP to promote apoptosis and inhibit proliferation in OSCC.
    8. Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.
      Title: Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.
    9. These results indicate that the talin-KANK1 complex is mechanically strong, enabling it to support the cross-talk between microtubule and actin cytoskeleton at focal adhesions.
      Title: Force-Dependent Regulation of Talin-KANK1 Complex at Focal Adhesions.
    10. KANK1 protein is required for targeting microtubules to focal adhesions.
      Title: A mechano-signalling network linking microtubules, myosin IIA filaments and integrin-based adhesions.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cerebral palsy, spastic quadriplegic, 2
    MedGen: C2752061 OMIM: 612900 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2016-04-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2016-04-28)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ18161, KIAA0172, MGC43128, DKFZp451G231

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cortical microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of insulin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of lamellipodium morphogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of ruffle assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in podocyte cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of wound healing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    KN motif and ankyrin repeat domain-containing protein 1
    Names
    ankyrin repeat domain-containing protein 15
    kidney ankyrin repeat-containing protein

    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.

    Genomic

    1. NG_016331.3 RefSeqGene

      Range
      39402..280810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256876.3 → NP_001243805.1  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      See identical proteins and their annotated locations for NP_001243805.1

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Related
      ENSP00000371740.1, ENST00000382303.5
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001256877.3 → NP_001243806.1  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      See identical proteins and their annotated locations for NP_001243806.1

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725, AL392089
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001354331.2 → NP_001341260.1  KN motif and ankyrin repeat domain-containing protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS94372.1
      UniProtKB/TrEMBL
      A0A8I5KT40, A8KAC4
      Related
      ENSP00000509034.1, ENST00000691319.1
      Conserved Domains (6) summary
      COG0666
      Location:1053 → 1208
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      COG1196
      Location:260 → 484
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG1511
      Location:696 → 1103
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      sd00045
      Location:1154 → 1184
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      pfam12796
      Location:1158 → 1243
      Ank_2; Ankyrin repeats (3 copies)

    4. NM_001354332.2 → NP_001341261.1  KN motif and ankyrin repeat domain-containing protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:1138 → 1269
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1216 → 1246
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_001354333.2 → NP_001341262.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:998 → 1129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1076 → 1106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    6. NM_001354334.2 → NP_001341263.1  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Related
      ENSP00000508451.1, ENST00000689779.1
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    7. NM_001354335.2 → NP_001341264.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000509433.1, ENST00000690372.1
      Conserved Domains (3) summary
      cd00204
      Location:998 → 1129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1076 → 1106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    8. NM_001354336.2 → NP_001341265.1  KN motif and ankyrin repeat domain-containing protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94373.1
      UniProtKB/TrEMBL
      A0A8I5KRP2, A0A8I5KUM3
      Conserved Domains (4) summary
      cd00204
      Location:900 → 1031
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:978 → 1008
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538 → 927
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    9. NM_001354337.2 → NP_001341266.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000510058.1, ENST00000687796.1
      Conserved Domains (3) summary
      cd00204
      Location:998 → 1129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1076 → 1106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    10. NM_001354338.2 → NP_001341267.1  KN motif and ankyrin repeat domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL136979
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:980 → 1111
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1058 → 1088
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_001354339.2 → NP_001341268.1  KN motif and ankyrin repeat domain-containing protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94374.1
      UniProtKB/TrEMBL
      A0A8I5KUD8, A0A8I5KZ49
      Related
      ENSP00000510316.1, ENST00000692757.1
      Conserved Domains (4) summary
      cd00204
      Location:918 → 1049
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:996 → 1026
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538 → 945
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    12. NM_001354340.2 → NP_001341269.1  KN motif and ankyrin repeat domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL136979
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:980 → 1111
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1058 → 1088
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    13. NM_001354341.2 → NP_001341270.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:998 → 1129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1076 → 1106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    14. NM_001354342.2 → NP_001341271.1  KN motif and ankyrin repeat domain-containing protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94374.1
      UniProtKB/TrEMBL
      A0A8I5KUD8, A0A8I5KZ49
      Related
      ENSP00000510515.1, ENST00000693143.1
      Conserved Domains (4) summary
      cd00204
      Location:918 → 1049
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:996 → 1026
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538 → 945
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    15. NM_001354343.2 → NP_001341272.1  KN motif and ankyrin repeat domain-containing protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94374.1
      UniProtKB/TrEMBL
      A0A8I5KUD8, A0A8I5KZ49
      Conserved Domains (4) summary
      cd00204
      Location:918 → 1049
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:996 → 1026
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538 → 945
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    16. NM_001354344.2 → NP_001341273.1  KN motif and ankyrin repeat domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL136979
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000508606.1, ENST00000685380.1
      Conserved Domains (3) summary
      cd00204
      Location:980 → 1111
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1058 → 1088
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    17. NM_015158.5 → NP_055973.2  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      See identical proteins and their annotated locations for NP_055973.2

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Related
      ENSP00000371734.2, ENST00000382297.7
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    18. NM_153186.6 → NP_694856.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000371730.3, ENST00000382293.7
      Conserved Domains (3) summary
      cd00204
      Location:998 → 1129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1076 → 1106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106 → 370
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_148869.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Related
      ENST00000688039.1

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      470295..746103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423041.1 → XP_047278997.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    2. XM_047423067.1 → XP_047279023.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40

    3. XM_047423060.1 → XP_047279016.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    4. XM_047423073.1 → XP_047279029.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

    5. XM_047423058.1 → XP_047279014.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    6. XM_047423040.1 → XP_047278996.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    7. XM_047423066.1 → XP_047279022.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40

    8. XM_047423059.1 → XP_047279015.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    9. XM_047423049.1 → XP_047279005.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    10. XM_047423053.1 → XP_047279009.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    11. XM_047423050.1 → XP_047279006.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    12. XM_047423043.1 → XP_047278999.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    13. XM_047423051.1 → XP_047279007.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    14. XM_047423047.1 → XP_047279003.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    15. XM_047423048.1 → XP_047279004.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    16. XM_047423042.1 → XP_047278998.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    17. XM_047423044.1 → XP_047279000.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    18. XM_047423052.1 → XP_047279008.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    19. XM_047423057.1 → XP_047279013.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    20. XM_024447463.2 → XP_024303231.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    21. XM_024447465.2 → XP_024303233.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    22. XM_047423069.1 → XP_047279025.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40

    23. XM_047423062.1 → XP_047279018.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    24. XM_047423056.1 → XP_047279012.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    25. XM_047423045.1 → XP_047279001.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    26. XM_047423068.1 → XP_047279024.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40
      Related
      ENSP00000510088.1, ENST00000689926.1

    27. XM_047423061.1 → XP_047279017.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    28. XM_047423071.1 → XP_047279027.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

    29. XM_047423055.1 → XP_047279011.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    30. XM_047423054.1 → XP_047279010.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      Related
      ENSP00000508833.1, ENST00000685947.1

    31. XM_047423065.1 → XP_047279021.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    32. XM_024447466.2 → XP_024303234.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    33. XM_024447467.2 → XP_024303235.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:1156 → 1287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:1234 → 1264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:30 → 68
      KN_motif; KN motif
      cl25732
      Location:264 → 528
      SMC_N; RecF/RecN/SMC N terminal domain

    34. XM_047423063.1 → XP_047279019.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    35. XM_047423046.1 → XP_047279002.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74

    36. XM_047423070.1 → XP_047279026.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40

    37. XM_047423064.1 → XP_047279020.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    38. XM_047423072.1 → XP_047279028.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

    39. XM_047423074.1 → XP_047279030.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X5

    40. XM_047423076.1 → XP_047279032.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A8I5KZ49

    41. XM_047423075.1 → XP_047279031.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X6

    42. XM_047423077.1 → XP_047279033.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KRP2

    43. XM_047423079.1 → XP_047279035.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X9

    44. XM_047423078.1 → XP_047279034.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KRP2
      Related
      ENSP00000509347.1, ENST00000693021.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      469752..745414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362460.1 → XP_054218435.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    2. XM_054362463.1 → XP_054218438.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    3. XM_054362468.1 → XP_054218443.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    4. XM_054362485.1 → XP_054218460.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

    5. XM_054362478.1 → XP_054218453.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    6. XM_054362476.1 → XP_054218451.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    7. XM_054362477.1 → XP_054218452.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    8. XM_054362470.1 → XP_054218445.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    9. XM_054362472.1 → XP_054218447.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    10. XM_054362475.1 → XP_054218450.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    11. XM_054362461.1 → XP_054218436.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    12. XM_054362488.1 → XP_054218463.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

    13. XM_054362481.1 → XP_054218456.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    14. XM_054362473.1 → XP_054218448.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    15. XM_054362464.1 → XP_054218439.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    16. XM_054362487.1 → XP_054218462.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

    17. XM_054362480.1 → XP_054218455.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    18. XM_054362462.1 → XP_054218437.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    19. XM_054362492.1 → XP_054218467.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

    20. XM_054362490.1 → XP_054218465.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

    21. XM_054362483.1 → XP_054218458.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    22. XM_054362465.1 → XP_054218440.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    23. XM_054362474.1 → XP_054218449.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    24. XM_054362471.1 → XP_054218446.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    25. XM_054362486.1 → XP_054218461.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

    26. XM_054362479.1 → XP_054218454.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    27. XM_054362494.1 → XP_054218469.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

    28. XM_054362489.1 → XP_054218464.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

    29. XM_054362469.1 → XP_054218444.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    30. XM_054362482.1 → XP_054218457.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    31. XM_054362466.1 → XP_054218441.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    32. XM_054362467.1 → XP_054218442.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

    33. XM_054362491.1 → XP_054218466.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

    34. XM_054362484.1 → XP_054218459.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

    35. XM_054362493.1 → XP_054218468.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

    36. XM_054362500.1 → XP_054218475.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X9

    37. XM_054362498.1 → XP_054218473.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

    38. XM_054362496.1 → XP_054218471.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X6

    39. XM_054362497.1 → XP_054218472.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X7

    40. XM_054362495.1 → XP_054218470.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X5

    41. XM_054362499.1 → XP_054218474.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14678.3 GenPept UniProtKB/Swiss-Prot:Q14678

    Gene LinkOut

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