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DOCK1 dedicator of cytokinesis 1 [ Homo sapiens (human) ]

Gene ID: 1793, updated on 1-Jun-2020

Summary

Official Symbol
DOCK1provided by HGNC
Official Full Name
dedicator of cytokinesis 1provided by HGNC
Primary source
HGNC:HGNC:2987
See related
Ensembl:ENSG00000150760 MIM:601403
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
ced5; DOCK180
Summary
This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Expression
Ubiquitous expression in thyroid (RPKM 10.9), skin (RPKM 10.0) and 24 other tissues See more
Orthologs

Genomic context

See DOCK1 in Genome Data Viewer
Location:
10q26.2
Exon count:
59
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (126905428..127452517)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (128768965..129250780)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene chromosome 10 open reading frame 90 Neighboring gene uncharacterized LOC105378548 Neighboring gene uncharacterized LOC105378550 Neighboring gene uncharacterized LOC107984059 Neighboring gene uncharacterized LOC105378552 Neighboring gene inhibitory synaptic factor 2A Neighboring gene uncharacterized LOC105378551 Neighboring gene neuropeptide S Neighboring gene forkhead box I2

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
NHGRI GWA Catalog
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
NHGRI GWA Catalog
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Rho guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cell migration IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway TAS
Traceable Author Statement
more info
PubMed 
phagocytosis, engulfment TAS
Traceable Author Statement
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
guanyl-nucleotide exchange factor complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
dedicator of cytokinesis protein 1
Names
180 kDa protein downstream of CRK
DOwnstream of CrK

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.

Genomic

  1. NG_033919.2 RefSeqGene

    Range
    4956..552064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290223.2NP_001277152.2  dedicator of cytokinesis protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
    Consensus CDS
    CCDS76359.1
    Related
    ENSP00000485033.1, ENST00000623213.1
  2. NM_001377543.1NP_001364472.1  dedicator of cytokinesis protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  3. NM_001377544.1NP_001364473.1  dedicator of cytokinesis protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  4. NM_001377546.1NP_001364475.1  dedicator of cytokinesis protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  5. NM_001377547.1NP_001364476.1  dedicator of cytokinesis protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  6. NM_001377548.1NP_001364477.1  dedicator of cytokinesis protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470201
  7. NM_001377550.1NP_001364479.1  dedicator of cytokinesis protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  8. NM_001377553.1NP_001364482.1  dedicator of cytokinesis protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  9. NM_001377554.1NP_001364483.1  dedicator of cytokinesis protein 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  10. NM_001377556.1NP_001364485.1  dedicator of cytokinesis protein 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  11. NM_001377558.1NP_001364487.1  dedicator of cytokinesis protein 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
  12. NM_001377560.1NP_001364489.1  dedicator of cytokinesis protein 1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155
  13. NM_001377561.1NP_001364490.1  dedicator of cytokinesis protein 1 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL359094, AL390920, AL607029, BX470155, BX470201
  14. NM_001380.5NP_001371.2  dedicator of cytokinesis protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
    Consensus CDS
    CCDS73222.1
    Related
    ENSP00000280333.6, ENST00000280333.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    126905428..127452517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539422.3XP_011537724.1  dedicator of cytokinesis protein 1 isoform X1

    Conserved Domains (4) summary
    cd08694
    Location:467662
    C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
    cd11707
    Location:12571655
    DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
    cd12051
    Location:3790
    SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
    pfam16172
    Location:94459
    DOCK_N; DOCK N-terminus
  2. XM_017015813.2XP_016871302.1  dedicator of cytokinesis protein 1 isoform X2

  3. XM_017015814.1XP_016871303.1  dedicator of cytokinesis protein 1 isoform X4

  4. XM_017015817.1XP_016871306.1  dedicator of cytokinesis protein 1 isoform X7

  5. XM_011539424.1XP_011537726.1  dedicator of cytokinesis protein 1 isoform X3

    Conserved Domains (4) summary
    cd08694
    Location:439634
    C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
    cd11707
    Location:12291627
    DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
    pfam16172
    Location:66431
    DOCK_N; DOCK N-terminus
    cl17036
    Location:962
    SH3; Src Homology 3 domain superfamily
  6. XM_024447859.1XP_024303627.1  dedicator of cytokinesis protein 1 isoform X6

    Conserved Domains (1) summary
    cl06123
    Location:395793
    DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
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