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Dock7 dedicator of cytokinesis 7 [ Mus musculus (house mouse) ]

Gene ID: 67299, updated on 28-Apr-2024

Summary

Official Symbol
Dock7provided by MGI
Official Full Name
dedicator of cytokinesis 7provided by MGI
Primary source
MGI:MGI:1914549
See related
Ensembl:ENSMUSG00000028556 AllianceGenome:MGI:1914549
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm430; 3110056M06Rik
Summary
Enables small GTPase binding activity. Involved in interkinetic nuclear migration; negative regulation of cold-induced thermogenesis; and regulation of neurogenesis. Acts upstream of or within hematopoietic progenitor cell differentiation and pigmentation. Predicted to be located in cell projection. Predicted to be part of COP9 signalosome. Is expressed in several structures, including alimentary system; central nervous system; lung; placenta; and sensory organ. Used to study platelet storage pool deficiency. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 23. Orthologous to human DOCK7 (dedicator of cytokinesis 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E14 (RPKM 16.9), whole brain E14.5 (RPKM 15.8) and 25 other tissues See more
Orthologs
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Genomic context

Location:
4 C6; 4 45.6 cM
Exon count:
52
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (98824669..99019190, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (98936659..99130953, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene 12851 Neighboring gene STARR-positive B cell enhancer ABC_E151 Neighboring gene STARR-seq mESC enhancer starr_10862 Neighboring gene ubiquitin specific peptidase 1 Neighboring gene STARR-seq mESC enhancer starr_10863 Neighboring gene angiopoietin-like 3 Neighboring gene ribosomal protein S4, X-linked pseudogene Neighboring gene STARR-seq mESC enhancer starr_10865 Neighboring gene STARR-positive B cell enhancer mm9_chr4:98849339-98849639 Neighboring gene STARR-seq mESC enhancer starr_10866 Neighboring gene autophagy related 4C, cysteine peptidase Neighboring gene predicted gene 10305 Neighboring gene predicted gene, 35379

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
misty
GeneReviews: Not available

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (2)  1 citation
  • Endonuclease-mediated (1) 
  • Targeted (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1771

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in activation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in axonogenesis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of neuroblast polarity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within hematopoietic progenitor cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in interkinetic nuclear migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cold-induced thermogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of peptidyl-serine phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of vascular associated smooth muscle cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in postsynaptic specialization assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in postsynaptic specialization assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in small GTPase-mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of COP9 signalosome ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuromuscular junction IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
dedicator of cytokinesis protein 7
Names
protein moonlight

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001290636.2NP_001277565.1  dedicator of cytokinesis protein 7 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL627349, AL627393, AL935325
    Consensus CDS
    CCDS71425.1
    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    UniProtKB/TrEMBL
    A2A9M5
    Related
    ENSMUSP00000030286.8, ENSMUST00000030286.14
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16342106
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:70159
    DUF3398; Domain of unknown function (DUF3398)
  2. NM_001369285.2NP_001356214.1  dedicator of cytokinesis protein 7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL627349, AL627393, AL935325
    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    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:72159
    DUF3398; Domain of unknown function (DUF3398)
  3. NM_001369286.2NP_001356215.1  dedicator of cytokinesis protein 7 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL627349, AL627393, AL935325
    Consensus CDS
    CCDS89783.1
    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    UniProtKB/TrEMBL
    A2A9M4
    Related
    ENSMUSP00000117797.3, ENSMUST00000127417.3
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16342108
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:72159
    DUF3398; Domain of unknown function (DUF3398)
  4. NM_026082.6NP_080358.3  dedicator of cytokinesis protein 7 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AL627349, AL627393, AL935325
    Consensus CDS
    CCDS38816.1
    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    UniProtKB/TrEMBL
    A0A0U1RNK7
    Related
    ENSMUSP00000145604.2, ENSMUST00000205650.2
    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:70159
    DUF3398; Domain of unknown function (DUF3398)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    98824669..99019190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006503314.5XP_006503377.1  dedicator of cytokinesis protein 7 isoform X6

    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    UniProtKB/TrEMBL
    E9PX48
    Related
    ENSMUSP00000075233.7, ENSMUST00000075836.12
    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:52161
    DUF3398; Domain of unknown function (DUF3398)
  2. XM_036164363.1XP_036020256.1  dedicator of cytokinesis protein 7 isoform X5

    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16162088
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:52161
    DUF3398; Domain of unknown function (DUF3398)
  3. XM_006503313.5XP_006503376.1  dedicator of cytokinesis protein 7 isoform X4

    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16162090
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:52161
    DUF3398; Domain of unknown function (DUF3398)
  4. XM_006503310.5XP_006503373.1  dedicator of cytokinesis protein 7 isoform X3

    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16462115
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:52161
    DUF3398; Domain of unknown function (DUF3398)
  5. XM_006503309.5XP_006503372.1  dedicator of cytokinesis protein 7 isoform X2

    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16462118
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:52161
    DUF3398; Domain of unknown function (DUF3398)
  6. XM_006503308.5XP_006503371.1  dedicator of cytokinesis protein 7 isoform X1

    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16462120
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:52161
    DUF3398; Domain of unknown function (DUF3398)
  7. XM_017320362.3XP_017175851.1  dedicator of cytokinesis protein 7 isoform X7

    UniProtKB/Swiss-Prot
    Q45V78, Q5PRE6, Q6PJ17, Q8R1A4, Q9CSB6, Q9CXM7
    Conserved Domains (3) summary
    cd08696
    Location:452629
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:15382012
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:153
    DUF3398; Domain of unknown function (DUF3398)
  8. XM_030253721.2XP_030109581.1  dedicator of cytokinesis protein 7 isoform X9

    Conserved Domains (2) summary
    cd11703
    Location:9901464
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    cl14603
    Location:10123
    C2; C2 domain
  9. XM_030253720.2XP_030109580.1  dedicator of cytokinesis protein 7 isoform X8

    Conserved Domains (2) summary
    cd11703
    Location:10321506
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    cl14603
    Location:10123
    C2; C2 domain
  10. XM_036164364.1XP_036020257.1  dedicator of cytokinesis protein 7 isoform X10

    Conserved Domains (2) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    pfam11878
    Location:52161
    DUF3398; Domain of unknown function (DUF3398)

RNA

  1. XR_001784187.3 RNA Sequence

  2. XR_003954998.1 RNA Sequence