Tdark | SH3 and cysteine-rich domain-containing protein 3 |
In skeletal muscles contraction, may play a role in neuromuscular synaptic transmission.
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
Comments
Species | Source |
---|---|
Chimp | OMA EggNOG |
Macaque | OMA EggNOG Inparanoid |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA EggNOG Inparanoid |
Dog | OMA EggNOG Inparanoid |
Cow | OMA EggNOG Inparanoid |
Pig | OMA EggNOG Inparanoid |
Anole lizard | OMA EggNOG Inparanoid |
Xenopus | OMA EggNOG Inparanoid |
PMID | Text |
---|---|
23736855 | A mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy. |
MTEKEVLESPKPSFPAETRQSGLQRLKQLLRKGSTGTKEMELPPEPQANGEAVGAGGGPIYYIYEEEEEE 1 - 70 EEEEEEPPPEPPKLVNDKPHKFKDHFFKKPKFCDVCARMIVLNNKFGLRCKNCKTNIHEHCQSYVEMQRC 71 - 140 FGKIPPGFHRAYSSPLYSNQQYACVKDLSAANRNDPVFETLRTGVIMANKERKKGQADKKNPVAAMMEEE 141 - 210 PESARPEEGKPQDGNPEGDKKAEKKTPDDKHKQPGFQQSHYFVALYRFKALEKDDLDFPPGEKITVIDDS 211 - 280 NEEWWRGKIGEKVGFFPPNFIIRVRAGERVHRVTRSFVGNREIGQITLKKDQIVVQKGDEAGGYVKVYTG 281 - 350 RKVGLFPTDFLEEI 351 - 364 //
PMID | Year | Title |
---|---|---|
25416956 | 2014 | A proteome-scale map of the human interactome network. |
25056061 | 2014 | Biological insights from 108 schizophrenia-associated genetic loci. |
23818578 | 2013 | Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility. |
23736855 | 2013 | Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. |
21516116 | 2011 | Next-generation sequencing to generate interactome datasets. |
16541075 | 2006 | The finished DNA sequence of human chromosome 12. |
16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
16189514 | 2005 | Towards a proteome-scale map of the human protein-protein interaction network. |
15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. |
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