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

    Gene ID: 67299, updated on 21-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
    NEW
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    Try the new Transcript table

    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
    • Targeted (1) 
    • Endonuclease-mediated (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)

    NEW Try the new Transcript table

    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