UniProtKB - Q13424 (SNTA1_HUMAN)
Alpha-1-syntrophin
SNTA1
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 similarityGO - Molecular functioni
- actin binding Source: UniProtKB-KW
- ATPase binding Source: BHF-UCL
- calmodulin binding Source: UniProtKB-KW
- nitric-oxide synthase binding Source: BHF-UCL
- PDZ domain binding Source: Ensembl
- sodium channel regulator activity Source: BHF-UCL
- structural molecule activity Source: InterPro
- transmembrane transporter binding Source: BHF-UCL
GO - Biological processi
- muscle contraction Source: ProtInc
- negative regulation of peptidyl-cysteine S-nitrosylation Source: BHF-UCL
- neuromuscular junction development Source: Ensembl
- regulation of heart rate Source: BHF-UCL
- regulation of sodium ion transmembrane transport Source: BHF-UCL
- regulation of vasoconstriction by circulating norepinephrine Source: Ensembl
- 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
PathwayCommonsi | Q13424 |
SignaLinki | Q13424 |
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
HGNCi | HGNC:11167, SNTA1 |
MIMi | 601017, gene |
neXtProti | NX_Q13424 |
VEuPathDBi | HostDB:ENSG00000101400 |
Subcellular locationi
Plasma membrane
- sarcolemma By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Cytoskeleton
- cytoskeleton By similarity
Other locations
- Cell junction By similarity
Note: In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions.By similarity
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Plasma Membrane
- dystrophin-associated glycoprotein complex Source: GO_Central
- postsynaptic membrane Source: Ensembl
- sarcolemma Source: GO_Central
- syntrophin complex Source: BHF-UCL
Other locations
- cytoplasm Source: UniProtKB-KW
- neuromuscular junction Source: GO_Central
- protein-containing complex Source: BHF-UCL
- synapse Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
Long QT syndrome 12 (LQT12)2 Publications
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:rs56157422EnsemblClinVar. | 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:rs121434500EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Long QT syndromeOrganism-specific databases
DisGeNETi | 6640 |
GeneReviewsi | SNTA1 |
MalaCardsi | SNTA1 |
MIMi | 612955, phenotype |
OpenTargetsi | ENSG00000101400 |
Orphaneti | 101016, Romano-Ward syndrome |
PharmGKBi | PA36007 |
Miscellaneous databases
Pharosi | Q13424, Tbio |
Genetic variation 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
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q13424 |
jPOSTi | Q13424 |
MassIVEi | Q13424 |
MaxQBi | Q13424 |
PaxDbi | Q13424 |
PeptideAtlasi | Q13424 |
PRIDEi | Q13424 |
ProteomicsDBi | 59409 [Q13424-1] |
PTM databases
iPTMneti | Q13424 |
PhosphoSitePlusi | Q13424 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000101400, Expressed in apex of heart and 222 other tissues |
Genevisiblei | Q13424, HS |
Organism-specific databases
HPAi | ENSG00000101400, Tissue enhanced (brain, skeletal muscle, tongue) |
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).
Interacts with DTNB (By similarity).
By similarityBinary interactionsi
Q13424
With | #Exp. | IntAct |
---|---|---|
ABCA1 [O95477] | 2 | EBI-717191,EBI-784112 |
ADRA1D [P25100] | 11 | EBI-717191,EBI-489993 |
Mapk12 [Q63538] from Rattus norvegicus. | 5 | EBI-717191,EBI-783937 |
GO - Molecular functioni
- actin binding Source: UniProtKB-KW
- ATPase binding Source: BHF-UCL
- calmodulin binding Source: UniProtKB-KW
- nitric-oxide synthase binding Source: BHF-UCL
- PDZ domain binding Source: Ensembl
- transmembrane transporter binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 112523, 95 interactors |
DIPi | DIP-966N |
IntActi | Q13424, 36 interactors |
MINTi | Q13424 |
STRINGi | 9606.ENSP00000217381 |
Miscellaneous databases
RNActi | Q13424, protein |
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 | 1 – 25 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 40 – 77 | DisorderedSequence analysisAdd BLAST | 38 | |
Regioni | 180 – 210 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 483 – 505 | Calmodulin-bindingBy similarityAdd BLAST | 23 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 180 – 194 | Polar residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG3551, Eukaryota |
GeneTreei | ENSGT00950000182863 |
HOGENOMi | CLU_026406_3_1_1 |
InParanoidi | Q13424 |
OMAi | DIKHIGW |
OrthoDBi | 1261897at2759 |
PhylomeDBi | Q13424 |
TreeFami | TF317932 |
Family and domain databases
CDDi | cd01258, PHsplit_syntrophin, 1 hit |
Gene3Di | 2.30.29.30, 2 hits 2.30.42.10, 1 hit |
InterProi | View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR041428, PHsplit_syntrophin 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 PF18012, PH_17, 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 basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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:rs56157422EnsemblClinVar. | 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:rs121434500EnsemblClinVar. | 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] |
Genome annotation databases
Ensembli | ENST00000217381.3; ENSP00000217381.2; ENSG00000101400.6 |
GeneIDi | 6640 |
KEGGi | hsa:6640 |
MANE-Selecti | ENST00000217381.3; ENSP00000217381.2; NM_003098.3; NP_003089.1 |
UCSCi | uc002wzd.2, human [Q13424-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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] |
3D structure databases
AlphaFoldDBi | Q13424 |
BMRBi | Q13424 |
SMRi | Q13424 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 112523, 95 interactors |
DIPi | DIP-966N |
IntActi | Q13424, 36 interactors |
MINTi | Q13424 |
STRINGi | 9606.ENSP00000217381 |
PTM databases
iPTMneti | Q13424 |
PhosphoSitePlusi | Q13424 |
Genetic variation databases
BioMutai | SNTA1 |
DMDMi | 23822157 |
Proteomic databases
EPDi | Q13424 |
jPOSTi | Q13424 |
MassIVEi | Q13424 |
MaxQBi | Q13424 |
PaxDbi | Q13424 |
PeptideAtlasi | Q13424 |
PRIDEi | Q13424 |
ProteomicsDBi | 59409 [Q13424-1] |
Protocols and materials databases
Antibodypediai | 10673, 422 antibodies from 33 providers |
DNASUi | 6640 |
Genome annotation databases
Ensembli | ENST00000217381.3; ENSP00000217381.2; ENSG00000101400.6 |
GeneIDi | 6640 |
KEGGi | hsa:6640 |
MANE-Selecti | ENST00000217381.3; ENSP00000217381.2; NM_003098.3; NP_003089.1 |
UCSCi | uc002wzd.2, human [Q13424-1] |
Organism-specific databases
CTDi | 6640 |
DisGeNETi | 6640 |
GeneCardsi | SNTA1 |
GeneReviewsi | SNTA1 |
HGNCi | HGNC:11167, SNTA1 |
HPAi | ENSG00000101400, Tissue enhanced (brain, skeletal muscle, tongue) |
MalaCardsi | SNTA1 |
MIMi | 601017, gene 612955, phenotype |
neXtProti | NX_Q13424 |
OpenTargetsi | ENSG00000101400 |
Orphaneti | 101016, Romano-Ward syndrome |
PharmGKBi | PA36007 |
VEuPathDBi | HostDB:ENSG00000101400 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3551, Eukaryota |
GeneTreei | ENSGT00950000182863 |
HOGENOMi | CLU_026406_3_1_1 |
InParanoidi | Q13424 |
OMAi | DIKHIGW |
OrthoDBi | 1261897at2759 |
PhylomeDBi | Q13424 |
TreeFami | TF317932 |
Enzyme and pathway databases
PathwayCommonsi | Q13424 |
SignaLinki | Q13424 |
SIGNORi | Q13424 |
Miscellaneous databases
BioGRID-ORCSi | 6640, 33 hits in 1082 CRISPR screens |
ChiTaRSi | SNTA1, human |
GeneWikii | Syntrophin,_alpha_1 |
GenomeRNAii | 6640 |
Pharosi | Q13424, Tbio |
PROi | PR:Q13424 |
RNActi | Q13424, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000101400, Expressed in apex of heart and 222 other tissues |
Genevisiblei | Q13424, HS |
Family and domain databases
CDDi | cd01258, PHsplit_syntrophin, 1 hit |
Gene3Di | 2.30.29.30, 2 hits 2.30.42.10, 1 hit |
InterProi | View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR041428, PHsplit_syntrophin 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 PF18012, PH_17, 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 |
MobiDBi | Search... |
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: | May 25, 2022 | |
This is version 199 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families