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

Gene ID: 1793, updated on 7-Aug-2014
Official Symbol
DOCK1provided by HGNC
Official Full Name
dedicator of cytokinesis 1provided by HGNC
Primary source
HGNC:2987
Locus tag
RP11-82L9.1
See related
Ensembl:ENSG00000150760; HPRD:03240; MIM:601403; Vega:OTTHUMG00000019249
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]
See DOCK1 in Epigenomics, MapViewer
Location:
10q26.13-q26.3
Exon count:
54
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (126905414..127452516)
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 long intergenic non-protein coding RNA 601 Neighboring gene hCG2044975 Neighboring gene chromosome 10 open reading frame 90 Neighboring gene family with sequence similarity 196, member A Neighboring gene neuropeptide S Neighboring gene uncharacterized LOC387720 Neighboring gene forkhead box I2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity TAS
Traceable Author Statement
more info
PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
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
 
axon guidance TAS
Traceable Author Statement
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cell migration IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
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 GTPase activity TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
dedicator of cytokinesis protein 1
Names
dedicator of cytokinesis protein 1
DOwnstream of CrK
180 kDa protein downstream of CRK

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_033919.1 

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

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI951513, AK091673, BC144632, BC146857, BP205399, BU626553, BX648342, CD104773, DA350224
    UniProtKB/TrEMBL
    B2RUU3
    Conserved Domains (3) summary
    cd08694
    Location:445640
    Blast Score: 974
    C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
    cd11707
    Location:12351633
    Blast Score: 2343
    DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
    cd12051
    Location:1368
    Blast Score: 323
    SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
  2. NM_001380.4NP_001371.1  dedicator of cytokinesis protein 1 isoform 2

    See proteins identical to NP_001371.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AI951513, AK091673, BC144632, BC146857, BP205399, BU626553, BX648342, CD104773, DA350224
    Consensus CDS
    CCDS73222.1
    UniProtKB/TrEMBL
    B2RUU3
    UniProtKB/Swiss-Prot
    Q14185
    Related
    ENSP00000280333, OTTHUMP00000020733, ENST00000280333, OTTHUMT00000050979
    Conserved Domains (3) summary
    cd08694
    Location:424619
    Blast Score: 974
    C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
    cd11707
    Location:12141612
    Blast Score: 2343
    DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
    cd12051
    Location:1368
    Blast Score: 321
    SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    126905414..127452516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717681.1XP_006717744.1  

  2. XM_006717682.1XP_006717745.1  

    Conserved Domains (2) summary
    cd08694
    Location:445640
    Blast Score: 972
    C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
    cd12051
    Location:1368
    Blast Score: 323
    SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
  3. XM_006717683.1XP_006717746.1  

    Conserved Domains (2) summary
    cd08694
    Location:445640
    Blast Score: 969
    C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
    cd12051
    Location:1368
    Blast Score: 323
    SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    122340788..122823487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    129050827..129533068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)