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DOCK7 dedicator of cytokinesis 7 [ Homo sapiens (human) ]

Gene ID: 85440, updated on 8-May-2016
Official Symbol
DOCK7provided by HGNC
Official Full Name
dedicator of cytokinesis 7provided by HGNC
Primary source
HGNC:HGNC:19190
See related
Ensembl:ENSG00000116641 HPRD:16833; MIM:615730; Vega:OTTHUMG00000013131
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
ZIR2; EIEE23
Summary
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Orthologs
Location:
1p31.3
Exon count:
53
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (62454726..62688368, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62920397..63154039, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378768 Neighboring gene ubiquitin specific peptidase 1 Neighboring gene angiopoietin like 3 Neighboring gene ribosomal protein L13a pseudogene 9 Neighboring gene autophagy related 4C cysteine peptidase Neighboring gene uncharacterized LOC105378769

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Epileptic encephalopathy, early infantile, 23
MedGen: CN189147 OMIM: 615859 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
NHGRI GWA Catalog
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1771

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rac GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of neuroblast polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
interkinetic nuclear migration ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of vascular associated smooth muscle cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with COP9 signalosome IDA
Inferred from Direct Assay
more info
PubMed 
axon TAS
Traceable Author Statement
more info
PubMed 
basal part of cell TAS
Traceable Author Statement
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
growth cone TAS
Traceable Author Statement
more info
PubMed 
neuron projection TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
dedicator of cytokinesis protein 7

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_033073.1 RefSeqGene

    Range
    5001..238643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271999.1NP_001258928.1  dedicator of cytokinesis protein 7 isoform 1

    See identical proteins and their annotated locations for NP_001258928.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB051558, BG190976, BU567903, DQ341187, DR002667
    Consensus CDS
    CCDS60156.1
    UniProtKB/Swiss-Prot
    Q96N67
    UniProtKB/TrEMBL
    H0Y7L2
    Related
    ENSP00000413583, OTTHUMP00000281307, ENST00000454575, OTTHUMT00000488191
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16352107
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
  2. NM_001272000.1NP_001258929.1  dedicator of cytokinesis protein 7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon and contains an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB051558, AL451044, BG190976, BU567903, DQ118679, DR002667
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000489284, OTTHUMP00000281308, ENST00000634264, OTTHUMT00000488193
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16042078
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
  3. NM_001272001.1NP_001258930.1  dedicator of cytokinesis protein 7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB051558, AL451044, BG190976, BU567903, DQ118680, DQ341187, DR002667
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000489499, OTTHUMP00000281309, ENST00000635123, OTTHUMT00000488194
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16042076
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
  4. NM_001272002.1NP_001258931.1  dedicator of cytokinesis protein 7 isoform 5

    See identical proteins and their annotated locations for NP_001258931.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK055401, BX094950, DR002667
    Consensus CDS
    CCDS60157.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000384446, OTTHUMP00000015339, ENST00000404627, OTTHUMT00000036807
    Conserved Domains (2) summary
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
    cl14603
    Location:560600
    C2; C2 domain
  5. NM_033407.3NP_212132.2  dedicator of cytokinesis protein 7 isoform 2

    See identical proteins and their annotated locations for NP_212132.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, contains an alternate in-frame exon, and uses an alternate in-frame splice site at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB051558, AK125049, BG190976, BU567903, DQ341187, DR002667
    Consensus CDS
    CCDS30734.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000340742, OTTHUMP00000015338, ENST00000340370, OTTHUMT00000036806
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16132087
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    62454726..62688368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271292.1XP_005271349.1  

    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000251157, OTTHUMP00000015340, ENST00000251157, OTTHUMT00000036808
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16352109
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
  2. XM_011542328.1XP_011540630.1  

    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16442113
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
  3. XM_011542327.1XP_011540629.1  

    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16442116
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
  4. XM_011542326.1XP_011540628.1  

    See identical proteins and their annotated locations for XP_011540628.1

    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000489124, OTTHUMP00000281311, ENST00000635253, OTTHUMT00000488202
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16442118
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
  5. XM_011542329.1XP_011540631.1  

    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
    cl06123
    Location:16441837
    DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
  6. XM_011542330.1XP_011540632.1  

    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    pfam11878
    Location:65159
    DUF3398; Domain of unknown function (DUF3398)
    cl06123
    Location:16441834
    DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    63035730..63269026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)