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MGP002945

Record overview

MGPD IDMGP002945
Gene ID6640
SpeciesHomo sapiens (Human)
Gene Namesyntrophin, alpha 1
Gene Symbol SNTA1
SynonymsSNT1; LQT12; TACIP1; dJ1187J4.5;
Alternate namesalpha-1-syntrophin; 59 kDa dystrophin-associated protein A1 acidic component 1; acidic alpha 1 syntrophin; dystrophin-associated protein A1, 59kDa, acidic component; pro-TGF-alpha cytoplasmic domain-interacting protein 1; syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component); syntrophin-1;
Chromosome20
Map Location20q11.2
SummarySyntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
OrthologsView orthologs and multiple alignments for SNTA1

Proteins

alpha-1-syntrophin
Refseq ID:NP_003089
Protein GI:4507137
UniProt ID:Q13424
mRNA ID:NM_003098
Length:505
RefSeq Status:
MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQEPAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGI
SIKGGRENKMPILISKIFKGLAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNSTGGTSVGWDSPPASPLQRQPS
SPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICSADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPYDAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGC
HRAAEGVQEVSTACTWNGRPCSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLHSCPKTIVFIIHSFLSAKVTR
LGLLA
 
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