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    DOK5 docking protein 5 [ Homo sapiens (human) ]

    Gene ID: 55816, updated on 11-Apr-2024

    Summary

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    Official Symbol
    DOK5provided by HGNC
    Official Full Name
    docking protein 5provided by HGNC
    Primary source
    HGNC:HGNC:16173
    See related
    Ensembl:ENSG00000101134 MIM:608334; AllianceGenome:HGNC:16173
    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
    IRS6; IRS-6; C20orf180
    Summary
    The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Expression
    Biased expression in brain (RPKM 5.9), heart (RPKM 5.0) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (54475593..54651169)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (56249933..56425528)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (53092132..53267708)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:52824023-52824840 and GRCh37_chr20:52824841-52825657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13055 Neighboring gene uncharacterized LOC107985385 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:52901007-52902206 Neighboring gene prefoldin subunit 4 Neighboring gene NANOG hESC enhancer GRCh37_chr20:52976162-52976663 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:53278465-53278969 Neighboring gene RNA, U4atac small nuclear 7, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:53530679-53531178 Neighboring gene ribosomal protein L12 pseudogene 4

    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
    • 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. DOK5 as a Prognostic Biomarker of Gastric Cancer Immunoinvasion: A Bioinformatics Analysis. Luo F, et al. Biomed Res Int, 2022. PMID 35036444, Free PMC Article
    2. Mapping the structural topology of IRS family cascades through computational biology. Chakraborty C, et al. Cell Biochem Biophys, 2013. PMID 23733669
    3. Genetic analysis of 16 NMR-lipoprotein fractions in humans, the GOLDN study. Kraja AT, et al. Lipids, 2013 Feb. PMID 23192668, Free PMC Article
    4. Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia. Metspalu M, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152676, Free PMC Article
    5. Insulin receptor substrates-5 and -6 are poor substrates for the insulin receptor. Versteyhe S, et al. Mol Med Rep, 2010 Jan-Feb. PMID 21472221

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dok5 regulates proliferation and differentiation of osteoblast via canonical Wnt/beta-catenin signaling.
      Title: Dok5 regulates proliferation and differentiation of osteoblast via canonical Wnt/β-catenin signaling.
    2. DOK5 as a Prognostic Biomarker of Gastric Cancer Immunoinvasion: A Bioinformatics Analysis.
      Title: DOK5 as a Prognostic Biomarker of Gastric Cancer Immunoinvasion: A Bioinformatics Analysis.
    3. IGFBP-5 induces its pro-fibrotic effects, at least in part, via DOK5. IGFBP-5 and DOK5 are both increased in systemic sclerosis fibroblasts and tissues and may thus be acting in concert to promote fibrosis.
      Title: The membrane-associated adaptor protein DOK5 is upregulated in systemic sclerosis and associated with IGFBP-5-induced fibrosis.
    4. Although preliminary, these data suggest that DOK5 and perhaps several other genes influence the magnitude of amygdala activation during face processing, particularly in those with BD.
      Title: A genome-wide association study of amygdala activation in youths with and without bipolar disorder.
    5. identified DOK5 as a novel susceptibility gene for obesity and type 2 diabetes in North Indian subjects
      Title: Evaluation of DOK5 as a susceptibility gene for type 2 diabetes and obesity in North Indian population.
    6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study of amygdala activation in youths with and without bipolar disorder.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    8. IRS5/DOK4 and IRS6/DOK5 represent two new signaling proteins with potential roles in insulin and IGF-1 action
      Title: Two new substrates in insulin signaling, IRS5/DOK4 and IRS6/DOK5.
    9. DOK5 expression in human T cells, its genomic structure characterized, and its regulation upon T cell activation has been demonstrated.
      Title: DOK4 and DOK5: new Dok-related genes expressed in human T cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of amygdala activation in youths with and without bipolar disorder.
    EBI GWAS Catalog
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    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

    • MGC16926

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of neurotrophin TRK receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    docking protein 5
    Names
    downstream of tyrosine kinase 5
    insulin receptor substrate 6

    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_001294161.2 → NP_001281090.1  docking protein 5 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) shares the same 5' terminal exon, and lacks the remaining exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is significantly shorter than isoform a.
      Source sequence(s)
      AI822030, BG212868, DA161365
      Related
      ENST00000491469.1
      Conserved Domains (1) summary
      cl17171
      Location:9 → 34
      PH-like; Pleckstrin homology-like domain

    2. NM_018431.5 → NP_060901.2  docking protein 5 isoform a

      See identical proteins and their annotated locations for NP_060901.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF132732, AF466368, CN427887, DA161365
      Consensus CDS
      CCDS13446.1
      UniProtKB/Swiss-Prot
      Q5T7Y0, Q5TE53, Q8TEW7, Q96H13, Q9BZ24, Q9NQF4, Q9P104, Q9Y411
      Related
      ENSP00000262593.5, ENST00000262593.10
      Conserved Domains (2) summary
      cd13164
      Location:133 → 235
      PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)
      cd14678
      Location:9 → 113
      PH_DOK4_DOK5_DOK6; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 4, 5, and 6 proteins

    3. NM_177959.3 → NP_808874.1  docking protein 5 isoform b

      See identical proteins and their annotated locations for NP_808874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AL162292, BC008992, BI916998
      Consensus CDS
      CCDS13447.1
      UniProtKB/Swiss-Prot
      Q9P104
      Related
      ENSP00000379270.1, ENST00000395939.5
      Conserved Domains (1) summary
      cd13164
      Location:25 → 127
      PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      54475593..54651169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528904.2 → XP_011527206.1  docking protein 5 isoform X2

      See identical proteins and their annotated locations for XP_011527206.1

      UniProtKB/Swiss-Prot
      Q9P104
      Conserved Domains (1) summary
      cd13164
      Location:25 → 127
      PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)

    2. XM_024451946.2 → XP_024307714.1  docking protein 5 isoform X1

      Conserved Domains (2) summary
      cd13164
      Location:121 → 223
      PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)
      cd14678
      Location:11 → 101
      PH_DOK4_DOK5_DOK6; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 4, 5, and 6 proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      56249933..56425528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323687.1 → XP_054179662.1  docking protein 5 isoform X2

    2. XM_054323686.1 → XP_054179661.1  docking protein 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P104.2 GenPept UniProtKB/Swiss-Prot:Q9P104

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