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

Summary

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; protein kinase binding activity; and signaling adaptor activity. Involved in several processes, including positive regulation of Rac protein signal transduction; positive regulation of protein tyrosine kinase activity; and positive regulation of skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within neuromuscular junction development; positive regulation of protein phosphorylation; and receptor clustering. Is active in neuromuscular junction and postsynaptic membrane. Is expressed in several structures, including central nervous system; heart; musculature; 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, Nov 2024]
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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
DOK7 Promotes NMJ Regeneration After Nerve Injury.
Title: DOK7 Promotes NMJ Regeneration After Nerve Injury.
Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.
Title: Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (4) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Mit420 (e-PCR), detects polymorphism
- UniSTS:130570

D11S1333 (e-PCR)
- UniSTS:33567

NoName (e-PCR)
- UniSTS:489622

D1S3693 (e-PCR)
- UniSTS:474271

AW049091 (e-PCR)
- UniSTS:179155

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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	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 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
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed

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)

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
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
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
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
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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

35213922..35245183

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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