STAC3
entrez
246329
canonical
uniprot
Q96MF2
canonical
ensembl
ENSG00000185482
resolver
ensp
ENSP00000329200
resolver
ensp
ENSP00000441515
resolver
ensp
ENSP00000452068
resolver
genesymbol
STAC3
resolver
hgnc
HGNC:28423
resolver
uniprot
B4DUK9
resolver
uniprot
Q96HU5
resolver
uniprot_entry
STAC3_HUMAN
resolver
uniprot_sec
B4DUK9
resolver
uniprot_sec
Q96HU5
resolver
amino_acid_sequence
MTEKEVLESPKPSFPAETRQSGLQRLKQLLRKGSTGTKEMELPPEPQANGEAVGAGGGPIYYIYEEEEEEEEEEEEPPPEPPKLVNDKPHKFKDHFFKKPKFCDVCARMIVLNNKFGLRCKNCKTNIHEHCQSYVEMQRCFGKIPPGFHRAYSSPLYSNQQYACVKDLSAANRNDPVFETLRTGVIMANKERKKGQADKKNPVAAMMEEEPESARPEEGKPQDGNPEGDKKAEKKTPDDKHKQPGFQQSHYFVALYRFKALEKDDLDFPPGEKITVIDDSNEEWWRGKIGEKVGFFPPNFIIRVRAGERVHRVTRSFVGNREIGQITLKKDQIVVQKGDEAGGYVKVYTGRKVGLFPTDFLEEI
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 13 (CMYO13) [MIM:255995]: An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. {ECO:0000269|PubMed:23736855, ECO:0000269|PubMed:28777491, ECO:0000269|PubMed:29078335}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335). {ECO:0000250|UniProtKB:Q8BZ71, ECO:0000269|PubMed:23736855, ECO:0000269|PubMed:29078335}.
uniprot
proteins
mass_dalton
41507
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
23736855
uniprot
proteins
pubmed
28777491
uniprot
proteins
pubmed
29078335
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BZ71}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q8BZ71}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8BZ71}; Cytoplasmic side {ECO:0000250|UniProtKB:Q8BZ71}. Cell membrane, sarcolemma, T-tubule {ECO:0000250|UniProtKB:Q8BZ71}. Note=Co-localizes with CACNA1S and CACNA1C on T-tubules. {ECO:0000250|UniProtKB:Q8BZ71}.
uniprot
proteins