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DOCK3 dedicator of cytokinesis 3 [ Homo sapiens (human) ]

Gene ID: 1795, updated on 24-Nov-2020

Summary

Official Symbol
DOCK3provided by HGNC
Official Full Name
dedicator of cytokinesis 3provided by HGNC
Primary source
HGNC:HGNC:2989
See related
Ensembl:ENSG00000088538 MIM:603123
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
PBP; MOCA; NEDIDHA
Summary
This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
Expression
Biased expression in brain (RPKM 7.9), thyroid (RPKM 4.0) and 6 other tissues See more
Orthologs

Genomic context

See DOCK3 in Genome Data Viewer
Location:
3p21.2
Exon count:
59
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (50674927..51384198)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50712672..51421629)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MAPK activated protein kinase 3 Neighboring gene long intergenic non-protein coding RNA 2019 Neighboring gene microRNA 4787 Neighboring gene peptidylprolyl isomerase A pseudogene 69 Neighboring gene zinc finger protein 652 pseudogene 1 Neighboring gene ST13, Hsp70 interacting protein pseudogene 14 Neighboring gene RNA binding motif protein 15B Neighboring gene DDB1 and CUL4 associated factor 1 Neighboring gene mesencephalic astrocyte derived neurotrophic factor

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

Associated conditions

Description Tests
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Identification of a melanoma susceptibility locus and somatic mutation in TET2.
GeneReviews: Not available
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
MedGen: C4749014 OMIM: 618292 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0299

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of non-membrane spanning protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
dedicator of cytokinesis protein 3
Names
modifier of cell adhesion
presenilin-binding protein

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_028012.2 RefSeqGene

    Range
    4687..713958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004947.5NP_004938.1  dedicator of cytokinesis protein 3

    See identical proteins and their annotated locations for NP_004938.1

    Status: REVIEWED

    Source sequence(s)
    AC096920, AY254099, BC045793
    Consensus CDS
    CCDS46835.1
    UniProtKB/Swiss-Prot
    Q8IZD9
    Related
    ENSP00000266037.8, ENST00000266037.10
    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:12351626
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    50674927..51384198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264914.3XP_005264971.1  dedicator of cytokinesis protein 3 isoform X1

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:12351626
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
  2. XM_005264915.3XP_005264972.1  dedicator of cytokinesis protein 3 isoform X2

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:12351626
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
  3. XM_017005825.2XP_016861314.1  dedicator of cytokinesis protein 3 isoform X7

  4. XM_006713008.3XP_006713071.1  dedicator of cytokinesis protein 3 isoform X5

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:12351626
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
  5. XM_006713009.3XP_006713072.1  dedicator of cytokinesis protein 3 isoform X6

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
    cl06123
    Location:12351597
    DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
  6. XM_005264917.3XP_005264974.1  dedicator of cytokinesis protein 3 isoform X4

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:12211612
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
  7. XM_005264916.4XP_005264973.1  dedicator of cytokinesis protein 3 isoform X3

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:12261617
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
  8. XM_005264918.4XP_005264975.1  dedicator of cytokinesis protein 3 isoform X8

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:11861577
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
  9. XM_017005826.2XP_016861315.1  dedicator of cytokinesis protein 3 isoform X9

  10. XM_006713010.3XP_006713073.1  dedicator of cytokinesis protein 3 isoform X10

    Conserved Domains (4) summary
    cd08695
    Location:420609
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:12351626
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cd12048
    Location:1065
    SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:69412
    DOCK_N; DOCK N-terminus
  11. XM_017005827.2XP_016861316.1  dedicator of cytokinesis protein 3 isoform X11

  12. XM_011533441.3XP_011531743.1  dedicator of cytokinesis protein 3 isoform X12

    Conserved Domains (3) summary
    cd08695
    Location:75264
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11704
    Location:8901281
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    pfam16172
    Location:267
    DOCK_N; DOCK N-terminus
  13. XM_011533443.2XP_011531745.1  dedicator of cytokinesis protein 3 isoform X13

    See identical proteins and their annotated locations for XP_011531745.1

    Conserved Domains (2) summary
    cd11704
    Location:339730
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cl09913
    Location:233349
    Csn2_like; CRISPR/Cas system-associated protein Csn2
  14. XM_011533445.2XP_011531747.1  dedicator of cytokinesis protein 3 isoform X14

    Conserved Domains (2) summary
    cd11704
    Location:281672
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cl09913
    Location:175291
    Csn2_like; CRISPR/Cas system-associated protein Csn2
  15. XM_011533444.2XP_011531746.1  dedicator of cytokinesis protein 3 isoform X13

    See identical proteins and their annotated locations for XP_011531746.1

    Conserved Domains (2) summary
    cd11704
    Location:339730
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cl09913
    Location:233349
    Csn2_like; CRISPR/Cas system-associated protein Csn2
  16. XM_017005828.1XP_016861317.1  dedicator of cytokinesis protein 3 isoform X14

    Conserved Domains (2) summary
    cd11704
    Location:281672
    DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
    cl09913
    Location:175291
    Csn2_like; CRISPR/Cas system-associated protein Csn2
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