DOK7 docking protein 7 [Homo sapiens (human)]
| Gene Symbol | DOK7 |
| Entrez Gene ID | 285489 |
| Full Name | docking protein 7 |
| Synonyms | C4orf25, CMS1B, FLJ33718, FLJ39137, FLJ90556 |
| 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]. |
| Disorder | MIM: 610285 Myasthenia, limb-girdle, familial, 254300 (3); Fetal akinesia |
| mRNA | NM_173660, 257467678 |
| Protein | NP_775931, 111185957 |
| Product | protein Dok-7 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001164673, 257467679 |
| Protein | NP_001158145, 257467680 |
| Product | protein Dok-7 isoform 2 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | DOK7 | NP_775931.3 |
| Pan troglodytes (chimpanzee) | DOK7 | XP_001174613.1 |
| Canis lupus familiaris (dog) | DOK7 | XP_545912.2 |
| Bos taurus (cattle) | DOK7 | XP_602917.4 |
| Mus musculus (house mouse) | Dok7 | NP_766296.1 |
| Rattus norvegicus (Norway rat) | Dok7 | XP_223532.4 |
| Gallus gallus (chicken) | DOK7 | XP_420818.2 |
| Danio rerio (zebrafish) | dok7 | XP_686127.3 |
| ID | Name | Evidence |
| GO:0005886 | plasma membrane | IEA |
| GO:0030054 | cell junction | IEA |
| GO:0045202 | synapse | IEA |
Function
| ID | Name | Evidence |
| GO:0005158 | insulin receptor binding | IEA |
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