SNTA1 (syntrophin alpha 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6640
Gene name Gene Name - the full gene name approved by the HGNC.
Syntrophin alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNTA1
Synonyms (NCBI Gene) Gene synonyms aliases
LQT12, SNT1, TACIP1, dJ1187J4.5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LQT12
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
Syntrophins 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs56157422 G>A,C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Coding sequence variant, missense variant
rs121434500 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs139532210 C>G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign Intron variant
rs141724500 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Coding sequence variant, missense variant
rs144860423 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT022575 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0002027 Process Regulation of heart rate IMP 18591664
GO:0003117 Process Regulation of vasoconstriction by circulating norepinephrine IEA
GO:0003779 Function Actin binding IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 10212242, 16192269, 16533813, 18468998, 19931615, 26617989, 27382054
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601017 11167 ENSG00000101400
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13424
Protein name Alpha-1-syntrophin (59 kDa dystrophin-associated protein A1 acidic component 1) (Pro-TGF-alpha cytoplasmic domain-interacting protein 1) (TACIP1) (Syntrophin-1)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 87 → 167 PDZ domain Domain
PF18012 PH_17 208 → 266 PH domain Domain
PF00169 PH 294 → 401 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
Sequence 
MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQE
PAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKG
LAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNST
GGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICS
ADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPY
DAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP
CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLH
SCPKTIVFIIHSFLSAKVTRLGLLA
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis 		 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
Long qt syndrome Long QT Syndrome, Long Qt Syndrome 12 rs121434386, rs120074177, rs104894252, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188
View all (552 more)		 18591664, 16301704, 19684871
Ventricular fibrillation Ventricular Fibrillation rs137854604, rs587782933, rs190140598
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Torsades de pointes Torsades de Pointes ClinVar
Long QT Syndrome long QT syndrome 12, long QT syndrome GenCC
Melanoma Melanoma SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GWAS, CBGDA
Carcinoma Carcinoma GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining
Disease Name Relationship Type References
Arrhythmias Cardiac Inhibit 35762211
Arrhythmias Cardiac Associate 35773684
Breast Neoplasms Associate 24434436
Cardiomyopathies Associate 35773684
Cardiomyopathy Hypertrophic Associate 35773684
Dementia Associate 30120299
Disease Associate 35773684
Dissection Blood Vessel Associate 22617347
Immunoglobulin G4 Related Disease Associate 35773684
Immunologic Deficiency Syndromes Stimulate 35773684