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DOK7 docking protein 7 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001164673 Homo sapiens docking protein 7 (DOK7), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001256896 Homo sapiens docking protein 7 (DOK7), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006713875 PREDICTED: Homo sapiens docking protein 7 (DOK7), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006713876 PREDICTED: Homo sapiens docking protein 7 (DOK7), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol DOK7
Entrez Gene ID 285489
Full Name docking protein 7
Synonyms C4orf25, CMS1B
General protein information
Preferred Names
protein Dok-7
Names
protein Dok-7
downstream of tyrosine kinase 7
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p16.3

Summary The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
Disorder

MIM: 610285

Myasthenia, limb-girdle, familial, 254300 (3); Fetal akinesia

mRNA Protein Product Sequence Price Select
NM_001164673, 257467679 NP_001158145, 257467680 protein Dok-7 isoform 2 ORF Sequence $300.00
NM_001256896, 379317166 NP_001243825, 379317167 protein Dok-7 isoform 3 ORF Sequence $250.00
NM_173660, 257467678 NP_775931, 111185957 protein Dok-7 isoform 1 ORF Sequence $550.00
XM_006713875, 578808135 XP_006713938, 578808136 protein Dok-7 isoform X1 ORF Sequence $550.00
XM_006713876, 578808137 XP_006713939, 578808138 protein Dok-7 isoform X2 ORF Sequence $400.00
Homo sapiens (human)DOK7NP_775931.3
Pan troglodytes (chimpanzee)DOK7XP_001174613.2
Canis lupus familiaris (dog)DOK7XP_005618793.1
Bos taurus (cattle)DOK7XP_005208279.1
Mus musculus (house mouse)Dok7NP_766296.1
Rattus norvegicus (Norway rat)Dok7NP_001123534.1
Process
IDNameEvidence
GO:0007528neuromuscular junction developmentIEA
GO:0043113receptor clusteringIEA
GO:0061098positive regulation of protein tyrosine kinase activityIDA
Component
IDNameEvidence
GO:0005886plasma membraneIEA
GO:0030054cell junctionIEA
GO:0031594neuromuscular junctionIEA
Function
IDNameEvidence
GO:0005158insulin receptor bindingIEA
GO:0019901protein kinase bindingIDA
GO:0035091phosphatidylinositol bindingIEA
GeneCards DOK7
UniProt Q8N1M3, Q18PE1
Vega OTTHUMG00000122087
MIM 610285
Ensembl ENSG00000175920
HGNC 26594
HPRD 08744

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the DOK7 gene?

The DOK7 gene provides instructions for making a protein that is necessary for the formation of connections between nerve cells and muscle cells, which occur in the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement. The Dok-7 protein participates in turning on (activating) a protein called MuSK that plays a key role in organizing the various proteins important for the development and maintenance of the neuromuscular junction. In particular, the MuSK protein is involved in concentrating a protein called the acetylcholine receptor (AChR) in the muscle membrane at the neuromuscular junction." The AChR protein is critical for signaling between nerve and muscle cells, which is necessary for movement.

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