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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]

 Comments

Property Summary

NCBI Gene PubMed Count 11
PubMed Score 492.82
PubTator Score 667.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
tuberculosis 1563 4.54202786900855E-8
Disease Target Count Z-score Confidence
Cleft Lip 91 5.623 2.8
Pellagra 25 3.147 1.6
Disease Target Count
Native American myopathy 2

Expression

  Differential Expression (1)

Disease log2 FC p
tuberculosis 1.100 0.000

Synonym

Accession Q96MF2 B4DUK9 Q96HU5
Symbols NAM

Gene

STAC3

PDB

2DB6  

  Ortholog (9)

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

 GO Function (2)

 GO Component (1)

 GO Process (4)

 Compartment GO Term (13)

 MGI Term (11)

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 HCA RNA Cell Line (56)

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 UniProt Keyword (10)

Gene RIF (1)

PMID Text
23736855 A mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy.

AA Sequence 

MTEKEVLESPKPSFPAETRQSGLQRLKQLLRKGSTGTKEMELPPEPQANGEAVGAGGGPIYYIYEEEEEE      1 - 70
EEEEEEPPPEPPKLVNDKPHKFKDHFFKKPKFCDVCARMIVLNNKFGLRCKNCKTNIHEHCQSYVEMQRC     71 - 140
FGKIPPGFHRAYSSPLYSNQQYACVKDLSAANRNDPVFETLRTGVIMANKERKKGQADKKNPVAAMMEEE    141 - 210
PESARPEEGKPQDGNPEGDKKAEKKTPDDKHKQPGFQQSHYFVALYRFKALEKDDLDFPPGEKITVIDDS    211 - 280
NEEWWRGKIGEKVGFFPPNFIIRVRAGERVHRVTRSFVGNREIGQITLKKDQIVVQKGDEAGGYVKVYTG    281 - 350
RKVGLFPTDFLEEI                                                            351 - 364
//

Text Mined References (12)

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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