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Protein

Alpha-1-syntrophin

Gene

SNTA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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 molecular function Source: GOC
  • 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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101400.5.
HGNCiHGNC:11167. SNTA1.

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:rs56157422Ensembl.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:rs121434500Ensembl.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.

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

Protein-protein interaction databases

BioGridi112523. 84 interactors.
DIPiDIP-966N.
IntActiQ13424. 7 interactors.
MINTiMINT-90249.
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.
SSF50729. SSF50729. 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:rs56157422Ensembl.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:rs121434500Ensembl.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. Translation: CAC15884.1.
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: November 22, 2017
This is version 168 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