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    Dock3 dedicator of cyto-kinesis 3 [ Mus musculus (house mouse) ]

    Gene ID: 208869, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Dock3provided by MGI
    Official Full Name
    dedicator of cyto-kinesis 3provided by MGI
    Primary source
    MGI:MGI:2429763
    See related
    Ensembl:ENSMUSG00000039716 AllianceGenome:MGI:2429763
    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
    PBP; MOCA; mKIAA0299
    Summary
    Predicted to enable SH3 domain binding activity and guanyl-nucleotide exchange factor activity. Predicted to be involved in small GTPase mediated signal transduction. Located in cytoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in attention deficit hyperactivity disorder. Orthologous to human DOCK3 (dedicator of cytokinesis 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in frontal lobe adult (RPKM 24.4), cortex adult (RPKM 21.6) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 F1; 9 57.98 cM
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (106770024..107109108, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (106892825..107232330, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene DDB1 and CUL4 associated factor 1 Neighboring gene STARR-positive B cell enhancer ABC_E9334 Neighboring gene STARR-positive B cell enhancer ABC_E460 Neighboring gene RNA binding motif protein 15B Neighboring gene mesencephalic astrocyte-derived neurotrophic factor Neighboring gene predicted gene, 18542 Neighboring gene STARR-seq mESC enhancer starr_25166 Neighboring gene pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 pseudogene Neighboring gene predicted gene, 22454 Neighboring gene predicted gene, 23595 Neighboring gene myc-like oncogene, s-myc protein pseudogene Neighboring gene predicted gene, 51734 Neighboring gene STARR-seq mESC enhancer starr_25168 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:107192213-107192396 Neighboring gene mitogen-activated protein kinase-activated protein kinase 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Dock3 overexpression and p38 MAPK inhibition synergistically stimulate neuroprotection and axon regeneration after optic nerve injury. Semba K, et al. Neurosci Lett, 2014 Oct 3. PMID 25172145
    2. Dock3 protects myelin in the cuprizone model for demyelination. Namekata K, et al. Cell Death Dis, 2014 Aug 28. PMID 25165881, Free PMC Article
    3. Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration. Chen Q, et al. J Neurosci, 2009 Jan 7. PMID 19129390, Free PMC Article
    4. Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. Helbig KL, et al. Clin Genet, 2017 Oct. PMID 28195318
    5. Dock3 attenuates neural cell death due to NMDA neurotoxicity and oxidative stress in a mouse model of normal tension glaucoma. Namekata K, et al. Cell Death Differ, 2013 Sep. PMID 23852370, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism.
      Title: DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism.
    2. DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.
      Title: DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.
    3. Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development
      Title: Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.
    4. Dock3 may be a therapeutic target for demyelinating disorders including optic neuritis.
      Title: Dock3 protects myelin in the cuprizone model for demyelination.
    5. Overexpression of Dock3 and pharmacological interruption of p38 have synergistic effects for both neuroprotection and axon regeneration, thus combined application may be beneficial for the treatment of ONI.
      Title: Dock3 overexpression and p38 MAPK inhibition synergistically stimulate neuroprotection and axon regeneration after optic nerve injury.
    6. Skeletal muscle-specific miR-486 overexpression in Dmdmdx-5Cv animals decreased levels of DOCK3, reduced PTEN expression, and subsequently increased levels of phosphorylated AKT, which resulted in an overall beneficial effect.
      Title: MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.
    7. These results suggest that Dock3 overexpression prevents glaucomatous retinal degeneration by suppressing both NR2B-mediated glutamate neurotoxicity and oxidative stress.
      Title: Dock3 attenuates neural cell death due to NMDA neurotoxicity and oxidative stress in a mouse model of normal tension glaucoma.
    8. The interaction between NR2D and Dock3 may have a neuroprotective effect.
      Title: Dock3 interaction with a glutamate-receptor NR2D subunit protects neurons from excitotoxicity.
    9. MOCA (modifier of cell adhesion), which was originally identified as being a presenilin-and Rac1-binding protein, is a common downstream constituent of neuronal death signals
      Title: MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.
    10. Dock3 plays important roles downstream of brain-derived neurotrophic factor (BDNF) signaling, where it regulates cell polarity and promotes axonal outgrowth by stimulating dual pathways: actin polymerization and microtubule assembly.
      Title: Dock3 stimulates axonal outgrowth via GSK-3β-mediated microtubule assembly.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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_153413.2 → NP_700462.2  dedicator of cytokinesis protein 3

      See identical proteins and their annotated locations for NP_700462.2

      Status: VALIDATED

      Source sequence(s)
      AC121608, AI604896, AK147385, BC040770, BE656508, BF465833, CF744136, CJ124323, CK781165
      Consensus CDS
      CCDS40760.1
      UniProtKB/Swiss-Prot
      Q8CIQ7
      UniProtKB/TrEMBL
      F8VPQ1
      Related
      ENSMUSP00000047652.5, ENSMUST00000044532.11
      Conserved Domains (4) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      106770024..107109108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244177.2 → XP_030100037.1  dedicator of cytokinesis protein 3 isoform X6

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (5) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1212 → 1603
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam03154
      Location:1728 → 2035
      Atrophin-1; Atrophin-1 family
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    2. XM_011242872.3 → XP_011241174.1  dedicator of cytokinesis protein 3 isoform X4

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (5) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1221 → 1612
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam03154
      Location:1737 → 2044
      Atrophin-1; Atrophin-1 family
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    3. XM_011242871.3 → XP_011241173.1  dedicator of cytokinesis protein 3 isoform X3

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (5) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1226 → 1617
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam03154
      Location:1742 → 2049
      Atrophin-1; Atrophin-1 family
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    4. XM_036154771.1 → XP_036010664.1  dedicator of cytokinesis protein 3 isoform X9

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (4) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    5. XM_011242873.3 → XP_011241175.1  dedicator of cytokinesis protein 3 isoform X5

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (5) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam03154
      Location:1761 → 1999
      Atrophin-1; Atrophin-1 family
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    6. XM_017313260.3 → XP_017168749.1  dedicator of cytokinesis protein 3 isoform X7

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (4) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    7. XM_011242870.3 → XP_011241172.1  dedicator of cytokinesis protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (5) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam03154
      Location:1751 → 2052
      Atrophin-1; Atrophin-1 family
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    8. XM_011242875.4 → XP_011241177.1  dedicator of cytokinesis protein 3 isoform X11

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (4) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    9. XM_011242869.3 → XP_011241171.1  dedicator of cytokinesis protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (5) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam03154
      Location:1751 → 2058
      Atrophin-1; Atrophin-1 family
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus

    10. XM_030244178.2 → XP_030100038.1  dedicator of cytokinesis protein 3 isoform X10

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (4) summary
      cd08695
      Location:267 → 456
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1082 → 1473
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      pfam03154
      Location:1598 → 1905
      Atrophin-1; Atrophin-1 family
      pfam16172
      Location:3 → 259
      DOCK_N; DOCK N-terminus

    11. XM_006511691.3 → XP_006511754.1  dedicator of cytokinesis protein 3 isoform X8

      UniProtKB/Swiss-Prot
      Q8CIQ7
      Conserved Domains (4) summary
      cd08695
      Location:420 → 609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:1235 → 1626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:10 → 65
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69 → 412
      DOCK_N; DOCK N-terminus
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CIQ7.1 GenPept UniProtKB/Swiss-Prot:Q8CIQ7

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