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    Dok7 docking protein 7 [ Mus musculus (house mouse) ]

    Gene ID: 231134, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Dok7provided by MGI
    Official Full Name
    docking protein 7provided by MGI
    Primary source
    MGI:MGI:3584043
    See related
    Ensembl:ENSMUSG00000044716 AllianceGenome:MGI:3584043
    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
    Oit5; Dok-7; EF-12; A930013K19Rik
    Summary
    Enables phosphatidylinositol binding activity and protein kinase binding activity. Involved in positive regulation of protein tyrosine kinase activity. Acts upstream of or within neuromuscular junction development; positive regulation of protein phosphorylation; and receptor clustering. Located in neuromuscular junction. Is expressed in several structures, including central nervous system; heart; skeletal muscle; and testis. Used to study congenital myasthenic syndrome 10. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 10 and fetal akinesia deformation sequence syndrome 3. Orthologous to human DOK7 (docking protein 7). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in ovary adult (RPKM 8.4), heart adult (RPKM 5.4) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 B2; 5 18.0 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (35213922..35245183)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (35056571..35087839)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene regulator of G-protein signaling 12 Neighboring gene microRNA 3097 Neighboring gene hepatocyte growth factor activator Neighboring gene STARR-seq mESC enhancer starr_12851 Neighboring gene STARR-positive B cell enhancer ABC_E3569 Neighboring gene low density lipoprotein receptor-related protein associated protein 1 Neighboring gene STARR-seq mESC enhancer starr_12852 Neighboring gene predicted gene, 31601

    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. DOK7 Promotes NMJ Regeneration After Nerve Injury. Kosco ED, et al. Mol Neurobiol, 2023 Mar. PMID 36464749
    2. AAV9-DOK7 gene therapy reduces disease severity in Smn(2B/-) SMA model mice. Kaifer KA, et al. Biochem Biophys Res Commun, 2020 Sep 10. PMID 32828271, Free PMC Article
    3. Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia. Webster RG, et al. Hum Mol Genet, 2020 Aug 11. PMID 32543656, Free PMC Article
    4. Overexpression of Dok-7 in skeletal muscle enhances neuromuscular transmission with structural alterations of neuromuscular junctions: Implications in robustness of neuromuscular transmission. Eguchi T, et al. Biochem Biophys Res Commun, 2020 Feb 26. PMID 31848047
    5. Postnatal knockdown of dok-7 gene expression in mice causes structural defects in neuromuscular synapses and myasthenic pathology. Eguchi T, et al. Genes Cells, 2016 Jun. PMID 27091576

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Peroxisome proliferator-activated receptor gamma coactivator 1alpha regulates downstream of tyrosine kinase-7 (Dok-7) expression important for neuromuscular junction formation.
      Title: Peroxisome proliferator-activated receptor γ coactivator 1α regulates downstream of tyrosine kinase-7 (Dok-7) expression important for neuromuscular junction formation.
    2. DOK7 Promotes NMJ Regeneration After Nerve Injury.
      Title: DOK7 Promotes NMJ Regeneration After Nerve Injury.
    3. Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.
      Title: Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.
    4. Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.
      Title: Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.
    5. APC2(CDH1) negatively regulates agrin signaling by promoting the ubiquitination and proteolytic degradation of DOK7.
      Title: APC2(CDH1) negatively regulates agrin signaling by promoting the ubiquitination and proteolytic degradation of DOK7.
    6. AAV9-DOK7 gene therapy reduces disease severity in Smn(2B/-) SMA model mice.
      Title: AAV9-DOK7 gene therapy reduces disease severity in Smn(2B/-) SMA model mice.
    7. Identification of the downstream molecules of agrin/Dok-7 signaling in muscle.
      Title: Identification of the downstream molecules of agrin/Dok-7 signaling in muscle.
    8. Overexpression of Dok-7 in skeletal muscle enhances neuromuscular transmission with structural alterations of neuromuscular junctions: Implications in robustness of neuromuscular transmission.
      Title: Overexpression of Dok-7 in skeletal muscle enhances neuromuscular transmission with structural alterations of neuromuscular junctions: Implications in robustness of neuromuscular transmission.
    9. The Dok-7's C-terminal region plays a key, but not fully essential, role in MuSK activation and NMJ formation.
      Title: The carboxyl-terminal region of Dok-7 plays a key, but not essential, role in activation of muscle-specific receptor kinase MuSK and neuromuscular synapse formation.
    10. These results demonstrate that correct, physiological levels of dok-7 expression are required for the postnatal maintenance of neuromuscular junctions.
      Title: Postnatal knockdown of dok-7 gene expression in mice causes structural defects in neuromuscular synapses and myasthenic pathology.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    Clone Names

    • MGC107606

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in enzyme-linked receptor protein signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in enzyme-linked receptor protein signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in enzyme-linked receptor protein signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuromuscular junction development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within neuromuscular junction development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromuscular junction development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of Rac protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of Rac protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein tyrosine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within receptor clustering IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within receptor clustering IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein Dok-7
    Names
    downstream of tyrosine kinase 7
    oncoprotein induced transcript 5

    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_001348274.1 → NP_001335203.1  protein Dok-7 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and the 3' UTR compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BB872984, BC089590
      Consensus CDS
      CCDS89911.1
      UniProtKB/Swiss-Prot
      Q18PE0, Q3TCZ6, Q5FW70, Q8C8U7
      Related
      ENSMUSP00000109909.2, ENSMUST00000114270.8
      Conserved Domains (3) summary
      cd13165
      Location:108 → 208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6 → 107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
      cl28033
      Location:276 → 487
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    2. NM_001348275.1 → NP_001335204.1  protein Dok-7 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in 5' and 3' coding regions and the 3' UTR compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC126447, BC089590
      UniProtKB/Swiss-Prot
      Q18PE0
      Conserved Domains (2) summary
      cd13165
      Location:100 → 200
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6 → 99
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

    3. NM_001348276.1 → NP_001335205.1  protein Dok-7 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple coding region differences and differs in the 3' UTR compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      BB872984, BC089590
      Consensus CDS
      CCDS89912.1
      UniProtKB/Swiss-Prot
      Q18PE0
      Related
      ENSMUSP00000098856.3, ENSMUST00000101298.9
      Conserved Domains (1) summary
      cl17171
      Location:6 → 33
      PH-like; Pleckstrin homology-like domain

    4. NM_001348478.1 → NP_001335407.1  protein Dok-7 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC126447, AK044445, AW120776
      UniProtKB/Swiss-Prot
      Q18PE0
      Conserved Domains (3) summary
      cd13165
      Location:108 → 208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6 → 107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
      cl26464
      Location:202 → 549
      Atrophin-1; Atrophin-1 family

    5. NM_172708.4 → NP_766296.1  protein Dok-7 isoform 5

      See identical proteins and their annotated locations for NP_766296.1

      Status: VALIDATED

      Source sequence(s)
      AC126447
      UniProtKB/TrEMBL
      A0A0R4J0R2
      Related
      ENSMUSP00000059538.4, ENSMUST00000050709.4
      Conserved Domains (3) summary
      PHA03247
      Location:165 → 512
      PHA03247; large tegument protein UL36; Provisional
      cd13165
      Location:71 → 171
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cl17171
      Location:1 → 70
      PH-like; Pleckstrin homology-like domain

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      35213922..35245183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503899.5 → XP_006503962.1  protein Dok-7 isoform X1

      Conserved Domains (3) summary
      PHA03247
      Location:194 → 541
      PHA03247; large tegument protein UL36; Provisional
      cd13165
      Location:100 → 200
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6 → 99
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

    2. XM_006503900.4 → XP_006503963.1  protein Dok-7 isoform X2

      See identical proteins and their annotated locations for XP_006503963.1

      UniProtKB/TrEMBL
      A0A0R4J0R2
      Conserved Domains (3) summary
      PHA03247
      Location:165 → 512
      PHA03247; large tegument protein UL36; Provisional
      cd13165
      Location:71 → 171
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cl17171
      Location:1 → 70
      PH-like; Pleckstrin homology-like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q18PE0.1 GenPept UniProtKB/Swiss-Prot:Q18PE0

    Gene LinkOut

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