SNTA1
entrez
6640
canonical
uniprot
Q13424
canonical
ensembl
ENSG00000101400
resolver
ensp
ENSP00000217381
resolver
ensp
ENSP00000550556
resolver
ensp
ENSP00000550559
resolver
ensp
ENSP00000676297
resolver
ensp
ENSP00000686128
resolver
genesymbol
SNTA1
resolver
genesymbol_syn
SNT1
resolver
hgnc
HGNC:11167
resolver
uniprot
A8K7H9
resolver
uniprot
B3KTR0
resolver
uniprot
B4DX40
resolver
uniprot
E1P5N1
resolver
uniprot
Q16438
resolver
uniprot_entry
B3KTR0_HUMAN
resolver
uniprot_entry
SNTA1_HUMAN
resolver
uniprot_sec
A8K7H9
resolver
uniprot_sec
B4DX40
resolver
uniprot_sec
E1P5N1
resolver
uniprot_sec
Q16438
resolver
amino_acid_sequence
MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQEPAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKGLAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNSTGGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICSADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWLTEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPYDAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRPCSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLHSCPKTIVFIIHSFLSAKVTRLGLLA
uniprot
proteins
disease_involvement
DISEASE: Long QT syndrome 12 (LQT12) [MIM:612955]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:18591664, ECO:0000269|PubMed:19684871}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
53895
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD. Phosphorylated by SRC; phosphorylation mediates laminin-induced activation of RAC1 signaling. {ECO:0000250|UniProtKB:Q61234}.
uniprot
proteins
protein_family
Syntrophin family
uniprot
proteins
pubmed
10212242
uniprot
proteins
pubmed
10230395
uniprot
proteins
pubmed
11163757
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18591664
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19684871
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8576247
uniprot
proteins
pubmed
8612778
uniprot
proteins
sequence_length
505
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO:0000250}.
uniprot
proteins