======= DOK7 ======= == Gene Information == * **Official Symbol**: DOK7 * **Official Name**: docking protein 7 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=285489|285489]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q18PE1|Q18PE1]] * **Interactions**: [[https://thebiogrid.org/search.php?search=DOK7&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DOK7|Open PubMed]] * **OMIM**: [[https://omim.org/entry/610285|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. {ECO:0000269|PubMed:20603078}. |IRS| |positive regulation of protein tyrosine kinase activity| |regulation of protein tyrosine kinase activity| |lipid binding| |positive regulation of peptidyl-tyrosine phosphorylation| |regulation of peptidyl-tyrosine phosphorylation| |synapse| |protein kinase binding| |positive regulation of protein kinase activity| |cell junction| |positive regulation of kinase activity| |positive regulation of transferase activity| |regulation of protein kinase activity| |regulation of kinase activity| |regulation of transferase activity| |positive regulation of protein phosphorylation| |positive regulation of phosphorylation| |positive regulation of phosphorus metabolic process| |positive regulation of phosphate metabolic process| |positive regulation of protein modification process| |mitochondrion| |positive regulation of catalytic activity| |regulation of protein phosphorylation| |regulation of phosphorylation| |positive regulation of cellular protein metabolic process| |positive regulation of protein metabolic process| |positive regulation of molecular function| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |regulation of protein modification process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 13837 * **Expression level (log2 read counts)**: -2.69 {{:chemogenomics:nalm6 dist.png?nolink |}}