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DOK5 docking protein 5 [ Homo sapiens (human) ]

Gene ID: 55816, updated on 12-Jan-2019

Summary

Official Symbol
DOK5provided by HGNC
Official Full Name
docking protein 5provided by HGNC
Primary source
HGNC:HGNC:16173
See related
Ensembl:ENSG00000101134 MIM:608334
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

Genomic context

See DOK5 in Genome Data Viewer
Location:
20q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (54475472..54651171)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (53092266..53267710)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985385 Neighboring gene prefoldin subunit 4 Neighboring gene RNA, U4atac small nuclear 7, pseudogene Neighboring gene ribosomal protein L12 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
    Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • RET signaling, organism-specific biosystem (from REACTOME)
    RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
  • Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem
    Signaling events regulated by Ret tyrosine kinase

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC16926

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
 
positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
regulation of neurotrophin TRK receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001294161.1NP_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
    Conserved Domains (1) summary
    cl17171
    Location:934
    PH-like; Pleckstrin homology-like domain
  2. NM_018431.4NP_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
    Q9P104
    Related
    ENSP00000262593.5, ENST00000262593.9
    Conserved Domains (2) summary
    cd13164
    Location:133235
    PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)
    cd14678
    Location:9113
    PH_DOK4_DOK5_DOK6; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 4, 5, and 6 proteins
  3. NM_177959.2NP_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)
    BC008992, BI916998
    Consensus CDS
    CCDS13447.1
    UniProtKB/Swiss-Prot
    Q9P104
    Related
    ENSP00000379270.1, ENST00000395939.5
    Conserved Domains (1) summary
    cd13164
    Location:25127
    PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    54475472..54651171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528904.1XP_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:25127
    PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)
  2. XM_024451946.1XP_024307714.1  docking protein 5 isoform X1

    Conserved Domains (2) summary
    cd13164
    Location:121223
    PTB_DOK4_DOK5_DOK6; Downstream of tyrosine kinase 4, 5, and 6 proteins phosphotyrosine-binding domain (PTBi)
    cd14678
    Location:11101
    PH_DOK4_DOK5_DOK6; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 4, 5, and 6 proteins
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