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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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