DOCK1 - dedicator of cytokinesis 1 Gene

Also Known as ced5; DOCK180

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1793

About DOCK1

Cytogenetic location: 10q26.2 Genomic coordinates (GRCh38): 10:126,905,428-127,452,516 (from NCBI)

This gene has 6 transcripts (splice variants), 226 orthologues and 10 paralogues. Ubiquitous expression in thyroid (RPKM 10.9), skin (RPKM 10.0) and 24 other tissues.

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]

DOCK1 Products (14)

mRNA Protein Name
NM_001290223.2 NP_001277152.2 dedicator of cytokinesis protein 1 isoform 1
NM_001377543.1 NP_001364472.1 dedicator of cytokinesis protein 1 isoform 3
NM_001377544.1 NP_001364473.1 dedicator of cytokinesis protein 1 isoform 4
NM_001377546.1 NP_001364475.1 dedicator of cytokinesis protein 1 isoform 5
NM_001377547.1 NP_001364476.1 dedicator of cytokinesis protein 1 isoform 6
NM_001377548.1 NP_001364477.1 dedicator of cytokinesis protein 1 isoform 7
NM_001377550.1 NP_001364479.1 dedicator of cytokinesis protein 1 isoform 8
NM_001377553.1 NP_001364482.1 dedicator of cytokinesis protein 1 isoform 9
NM_001377554.1 NP_001364483.1 dedicator of cytokinesis protein 1 isoform 10
NM_001377556.1 NP_001364485.1 dedicator of cytokinesis protein 1 isoform 11
NM_001377558.1 NP_001364487.1 dedicator of cytokinesis protein 1 isoform 12
NM_001377560.1 NP_001364489.1 dedicator of cytokinesis protein 1 isoform 13
NM_001377561.1 NP_001364490.1 dedicator of cytokinesis protein 1 isoform 14
NM_001380.5 NP_001371.2 dedicator of cytokinesis protein 1 isoform 2
Molecular Function GO Annotation Evidence References Source
contributes to guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
12134158 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12134158 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of epithelial cell migration IMP
IMP: Inferred from mutant phenotype
19004829 GOA
involved in positive regulation of substrate adhesion-dependent cell spreading IMP
IMP: Inferred from mutant phenotype
19004829 GOA
involved in regulation of postsynapse assembly IDA
IDA: Inferred from direct assay
21900250 GOA
involved in regulation of postsynapse assembly IMP
IMP: Inferred from mutant phenotype
21900250 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17515907 GOA
is active in glutamatergic synapse IDA
IDA: Inferred from direct assay
21900250 GOA
is active in glutamatergic synapse IMP
IMP: Inferred from mutant phenotype
21900250 GOA
part of guanyl-nucleotide exchange factor complex IDA
IDA: Inferred from direct assay
12134158 GOA
is active in postsynapse IDA
IDA: Inferred from direct assay
21900250 GOA
is active in postsynapse IMP
IMP: Inferred from mutant phenotype
21900250 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DOCK1 Protein Structure

SH3_9

SH3_9: Variant SH3 domain (16 - 65)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (420 - 619)

DHR-2

DHR-2: Dock homology region 2 (1427 - 1609)

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  • 1865 a.a.
Protein Preferred Names Protein Names

dedicator of cytokinesis protein 1

  • 180 kDa protein downstream of CRK

DOCK1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DOCK1 Q14185 DOCK5 Homo sapiens Q9H7D0-1 32203420
Intra
DOCK1 Q14185 ELMO1 Homo sapiens Q92556 15247908
Intra
DOCK1 Q14185 ELMO1 Homo sapiens Q92556 18768751
Intra
DOCK1 Q14185 ELMO1 Homo sapiens Q92556 12134158
Intra
DOCK1 Q14185 ELMO1 Homo sapiens Q92556 15723800
Intra
DOCK1 Q14185 ELMO1 Homo sapiens Q92556 18768751
Intra
DOCK1 Q14185 ELMO1 Homo sapiens Q92556 15723800
Intra
DOCK1 Q14185 ANKRD28 Homo sapiens O15084 19118547
Intra
DOCK1 Q14185 GRB2 Homo sapiens P62993 20936779
Intra
DOCK1 Q14185 RAC1 Homo sapiens P63000 12134158
Intra
DOCK1 Q14185 RAC1 Homo sapiens P63000 15723800
Intra
DOCK1 Q14185 RAC1 Homo sapiens P63000 12134158
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Chromosome 10q26 Deletion Syndrome
  • Distal 10q Deletion Syndrome

  • Terminal Chromosome 10q26 Deletion Syndrome

  • Distal Monosomy 10q

  • Monosomy 10qter

  • Telomeric Deletion 10q

  • Distal Deletion 10q

  • 10q26 Deletion Syndrome

  • 10qter Deletion

  • Telomeric Deletion 10

Immunodeficiency 40
  • Dock2 Deficiency

  • IMD40

  • Immunodeficiency, Type 40

Spinocerebellar Ataxia, Autosomal Recessive 15
  • Autosomal Recessive Spinocerebellar Ataxia 15

  • SCAR15

  • Salih Ataxia

  • Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency

  • Autosomal Recessive Spinocerebellar Ataxia Type 15

  • Spinocerebellar Ataxia, Autosomal Recessive, 15

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Stereotypic Movement Disorder
  • Stereotypy Habit Disorder

  • Stereotyped Repetitive Movements

  • Stereotyped Disorder

  • Stereotypes Nos

  • Stereotype Habit Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus DOCK1 VGNC VGNC:28154
Macaca mulatta DOCK1 VGNC VGNC:71965
Mus musculus DOCK1 MGD MGI:2429765
Rattus norvegicus DOCK1 RGD RGD:1566072
Felis catus DOCK1 VGNC VGNC:97403
Canis familiaris DOCK1 VGNC VGNC:40043
Others DOCK1 NCBI