UniProtKB - Q13424 (SNTA1_HUMAN)
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Protein
Alpha-1-syntrophin
Gene
SNTA1
Organism
Homo sapiens (Human)
Status
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 function | Actin-binding, Calmodulin-binding |
Ligand | Calcium |
Enzyme and pathway databases
SIGNORi | Q13424. |
Names & Taxonomyi
Protein namesi | Recommended name: Alpha-1-syntrophinAlternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000101400.5. |
HGNCi | HGNC:11167. SNTA1. |
MIMi | 601017. gene. |
neXtProti | NX_Q13424. |
Subcellular locationi
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, MembranePathology & 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:612955Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062399 | 257 | A → G in LQT12; leads to a gain of function of the voltage dependent sodium channel. 1 PublicationCorresponds to variant dbSNP:rs56157422Ensembl. | 1 | |
Natural variantiVAR_062400 | 390 | A → 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 syndromeOrganism-specific databases
DisGeNETi | 6640. |
GeneReviewsi | SNTA1. |
MalaCardsi | SNTA1. |
MIMi | 612955. phenotype. |
OpenTargetsi | ENSG00000101400. |
Orphaneti | 101016. Romano-Ward syndrome. |
PharmGKBi | PA36007. |
Polymorphism and mutation databases
BioMutai | SNTA1. |
DMDMi | 23822157. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184006 | 1 – 505 | Alpha-1-syntrophinAdd BLAST | 505 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 101 | PhosphoserineBy similarity | 1 | |
Modified residuei | 184 | PhosphoserineCombined sources | 1 | |
Modified residuei | 189 | PhosphoserineCombined sources | 1 | |
Modified residuei | 193 | PhosphoserineCombined sources | 1 | |
Modified residuei | 200 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).By similarity
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q13424. |
MaxQBi | Q13424. |
PaxDbi | Q13424. |
PeptideAtlasi | Q13424. |
PRIDEi | Q13424. |
PTM databases
iPTMneti | Q13424. |
PhosphoSitePlusi | Q13424. |
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
Bgeei | ENSG00000101400. |
CleanExi | HS_SNTA1. |
Genevisiblei | Q13424. HS. |
Organism-specific databases
HPAi | CAB037059. |
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
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
BioGridi | 112523. 84 interactors. |
DIPi | DIP-966N. |
IntActi | Q13424. 8 interactors. |
MINTi | Q13424. |
STRINGi | 9606.ENSP00000217381. |
Structurei
3D structure databases
ProteinModelPortali | Q13424. |
SMRi | Q13424. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 6 – 269 | PH 1PROSITE-ProRule annotationAdd BLAST | 264 | |
Domaini | 87 – 170 | PDZPROSITE-ProRule annotationAdd BLAST | 84 | |
Domaini | 293 – 401 | PH 2PROSITE-ProRule annotationAdd BLAST | 109 | |
Domaini | 449 – 505 | SUAdd BLAST | 57 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 483 – 505 | Calmodulin-bindingBy similarityAdd BLAST | 23 |
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
RepeatPhylogenomic databases
eggNOGi | ENOG410IMRM. Eukaryota. ENOG410XS4Y. LUCA. |
GeneTreei | ENSGT00550000074581. |
HOGENOMi | HOG000231596. |
HOVERGENi | HBG054204. |
InParanoidi | Q13424. |
OMAi | IGWLTEQ. |
OrthoDBi | EOG091G0O31. |
PhylomeDBi | Q13424. |
TreeFami | TF317932. |
Family and domain databases
Gene3Di | 2.30.29.30. 2 hits. |
InterProi | View protein in InterPro IPR001478. PDZ. IPR036034. PDZ_sf. IPR011993. PH-like_dom_sf. IPR001849. PH_domain. IPR028552. SNTA1. IPR015482. Syntrophin. |
PANTHERi | PTHR10554. PTHR10554. 1 hit. PTHR10554:SF6. PTHR10554:SF6. 1 hit. |
Pfami | View protein in Pfam PF00595. PDZ. 1 hit. PF00169. PH. 1 hit. |
SMARTi | View protein in SMART SM00228. PDZ. 1 hit. SM00233. PH. 2 hits. |
SUPFAMi | SSF50156. SSF50156. 1 hit. |
PROSITEi | View protein in PROSITE PS50106. PDZ. 1 hit. PS50003. PH_DOMAIN. 2 hits. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative 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.
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 6 | R → P in AAB36398 (PubMed:8612778).Curated | 1 | |
Sequence conflicti | 25 | G → A in AAB36398 (PubMed:8612778).Curated | 1 | |
Sequence conflicti | 32 – 33 | LL → PV in AAB36398 (PubMed:8612778).Curated | 2 | |
Sequence conflicti | 66 | G → D in AAB36398 (PubMed:8612778).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062399 | 257 | A → G in LQT12; leads to a gain of function of the voltage dependent sodium channel. 1 PublicationCorresponds to variant dbSNP:rs56157422Ensembl. | 1 | |
Natural variantiVAR_014075 | 364 | L → F. Corresponds to variant dbSNP:rs1046815Ensembl. | 1 | |
Natural variantiVAR_062400 | 390 | A → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056827 | 254 – 328 | Missing in isoform 2. 1 PublicationAdd BLAST | 75 |
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. |
CCDSi | CCDS13220.1. [Q13424-1] |
PIRi | S62894. |
RefSeqi | NP_003089.1. NM_003098.2. [Q13424-1] |
UniGenei | Hs.31121. |
Genome annotation databases
Ensembli | ENST00000217381; ENSP00000217381; ENSG00000101400. [Q13424-1] |
GeneIDi | 6640. |
KEGGi | hsa:6640. |
UCSCi | uc002wzd.2. human. [Q13424-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | SNTA1_HUMAN | |
Accessioni | Q13424Primary (citable) accession number: Q13424 Secondary accession number(s): A8K7H9 Q16438 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2002 |
Last sequence update: | November 1, 1996 | |
Last modified: | March 28, 2018 | |
This is version 171 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |