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UniProtKB - Q13424 (SNTA1_HUMAN)

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Protein

Alpha-1-syntrophin

Gene

SNTA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

  • actin binding Source: UniProtKB-KW
  • ATPase binding Source: BHF-UCL
  • calmodulin binding Source: UniProtKB-KW
  • ion channel binding Source: BHF-UCL
  • nitric-oxide synthase binding Source: BHF-UCL
  • PDZ domain binding Source: Ensembl
  • structural molecule activity Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • muscle contraction Source: ProtInc
  • negative regulation of peptidyl-cysteine S-nitrosylation Source: BHF-UCL
  • regulation of heart rate Source: BHF-UCL
  • regulation of sodium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActin-binding, Calmodulin-binding
LigandCalcium

Enzyme and pathway databases

SIGNORiQ13424

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-1-syntrophin
Alternative name(s):
59 kDa dystrophin-associated protein A1 acidic component 1
Pro-TGF-alpha cytoplasmic domain-interacting protein 1
Short name:
TACIP1
Syntrophin-1
Gene namesi
Name:SNTA1
Synonyms:SNT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101400.5
HGNCiHGNC:11167 SNTA1
MIMi601017 gene
neXtProtiNX_Q13424

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 12 (LQT12)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612955
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062399257A → G in LQT12; leads to a gain of function of the voltage dependent sodium channel. 1 PublicationCorresponds to variant dbSNP:rs56157422EnsemblClinVar.1
Natural variantiVAR_062400390A → V in LQT12; results in released inhibition of nNOS, S-nitrosylation of SCN5A and increased late sodium current. 1 PublicationCorresponds to variant dbSNP:rs121434500EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNETi6640
GeneReviewsiSNTA1
MalaCardsiSNTA1
MIMi612955 phenotype
OpenTargetsiENSG00000101400
Orphaneti101016 Romano-Ward syndrome
PharmGKBiPA36007

Polymorphism and mutation databases

BioMutaiSNTA1
DMDMi23822157

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001840061 – 505Alpha-1-syntrophinAdd BLAST505

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei101PhosphoserineBy similarity1
Modified residuei184PhosphoserineCombined sources1
Modified residuei189PhosphoserineCombined sources1
Modified residuei193PhosphoserineCombined sources1
Modified residuei200PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ13424
MaxQBiQ13424
PaxDbiQ13424
PeptideAtlasiQ13424
PRIDEiQ13424
ProteomicsDBi59409

PTM databases

iPTMnetiQ13424
PhosphoSitePlusiQ13424

Expressioni

Tissue specificityi

High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.

Gene expression databases

BgeeiENSG00000101400
CleanExiHS_SNTA1
GenevisibleiQ13424 HS

Organism-specific databases

HPAiCAB037059

Interactioni

Subunit structurei

Monomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA. Interacts with MYOC; regulates muscle hypertrophy (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • actin binding Source: UniProtKB-KW
  • ATPase binding Source: BHF-UCL
  • calmodulin binding Source: UniProtKB-KW
  • ion channel binding Source: BHF-UCL
  • nitric-oxide synthase binding Source: BHF-UCL
  • PDZ domain binding Source: Ensembl
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112523, 84 interactors
DIPiDIP-966N
IntActiQ13424, 8 interactors
MINTiQ13424
STRINGi9606.ENSP00000217381

Structurei

3D structure databases

ProteinModelPortaliQ13424
SMRiQ13424
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini6 – 269PH 1PROSITE-ProRule annotationAdd BLAST264
Domaini87 – 170PDZPROSITE-ProRule annotationAdd BLAST84
Domaini293 – 401PH 2PROSITE-ProRule annotationAdd BLAST109
Domaini449 – 505SUAdd BLAST57

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni483 – 505Calmodulin-bindingBy similarityAdd BLAST23

Domaini

The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate.By similarity
The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity).By similarity
The SU domain binds calmodulin in a calcium-dependent manner.By similarity

Sequence similaritiesi

Belongs to the syntrophin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IMRM Eukaryota
ENOG410XS4Y LUCA
GeneTreeiENSGT00550000074581
HOGENOMiHOG000231596
HOVERGENiHBG054204
InParanoidiQ13424
OMAiIGWLTEQ
OrthoDBiEOG091G0O31
PhylomeDBiQ13424
TreeFamiTF317932

Family and domain databases

Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR028552 SNTA1
IPR015482 Syntrophin
PANTHERiPTHR10554 PTHR10554, 1 hit
PTHR10554:SF6 PTHR10554:SF6, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 1 hit
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SM00233 PH, 2 hits
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit
PS50003 PH_DOMAIN, 2 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13424-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASGRRAPRT GLLELRAGAG SGAGGERWQR VLLSLAEDVL TVSPADGDPG 
        60         70         80         90        100
PEPGAPREQE PAQLNGAAEP GAGPPQLPEA LLLQRRRVTV RKADAGGLGI 
       110        120        130        140        150
SIKGGRENKM PILISKIFKG LAADQTEALF VGDAILSVNG EDLSSATHDE 
       160        170        180        190        200
AVQVLKKTGK EVVLEVKYMK DVSPYFKNST GGTSVGWDSP PASPLQRQPS 
       210        220        230        240        250
SPGPTPRNFS EAKHMSLKMA YVSKRCTPND PEPRYLEICS ADGQDTLFLR 
       260        270        280        290        300
AKDEASARSW ATAIQAQVNT LTPRVKDELQ ALLAATSTAG SQDIKQIGWL 
       310        320        330        340        350
TEQLPSGGTA PTLALLTEKE LLLYLSLPET REALSRPART APLIATRLVH 
       360        370        380        390        400
SGPSKGSVPY DAELSFALRT GTRHGVDTHL FSVESPQELA AWTRQLVDGC 
       410        420        430        440        450
HRAAEGVQEV STACTWNGRP CSLSVHIDKG FTLWAAEPGA ARAVLLRQPF 
       460        470        480        490        500
EKLQMSSDDG ASLLFLDFGG AEGEIQLDLH SCPKTIVFII HSFLSAKVTR 

LGLLA
Length:505
Mass (Da):53,895
Last modified:November 1, 1996 - v1
Checksum:iC07DA5F21C775CF8
GO
Isoform 2 (identifier: Q13424-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     254-328: Missing.

Note: No experimental confirmation available.
Show »
Length:430
Mass (Da):45,951
Checksum:iCC6ACFC81506F650
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6R → P in AAB36398 (PubMed:8612778).Curated1
Sequence conflicti25G → A in AAB36398 (PubMed:8612778).Curated1
Sequence conflicti32 – 33LL → PV in AAB36398 (PubMed:8612778).Curated2
Sequence conflicti66G → D in AAB36398 (PubMed:8612778).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062399257A → G in LQT12; leads to a gain of function of the voltage dependent sodium channel. 1 PublicationCorresponds to variant dbSNP:rs56157422EnsemblClinVar.1
Natural variantiVAR_014075364L → F. Corresponds to variant dbSNP:rs1046815Ensembl.1
Natural variantiVAR_062400390A → V in LQT12; results in released inhibition of nNOS, S-nitrosylation of SCN5A and increased late sodium current. 1 PublicationCorresponds to variant dbSNP:rs121434500EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056827254 – 328Missing in isoform 2. 1 PublicationAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40571 mRNA Translation: AAC50448.1
S81737 mRNA Translation: AAB36398.1
AL355392 Genomic DNA No translation available.
AK291994 mRNA Translation: BAF84683.1
AK301800 mRNA Translation: BAG63252.1
CH471077 Genomic DNA Translation: EAW76316.1
CH471077 Genomic DNA Translation: EAW76317.1
BC026215 mRNA Translation: AAH26215.1
CCDSiCCDS13220.1 [Q13424-1]
PIRiS62894
RefSeqiNP_003089.1, NM_003098.2 [Q13424-1]
UniGeneiHs.31121

Genome annotation databases

EnsembliENST00000217381; ENSP00000217381; ENSG00000101400 [Q13424-1]
GeneIDi6640
KEGGihsa:6640
UCSCiuc002wzd.2 human [Q13424-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSNTA1_HUMAN
AccessioniPrimary (citable) accession number: Q13424
Secondary accession number(s): A8K7H9
, B4DX40, E1P5N1, Q16438
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: November 1, 1996
Last modified: July 18, 2018
This is version 175 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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