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SNTA1 syntrophin alpha 1 [ Homo sapiens (human) ]

Gene ID: 6640, updated on 13-Jan-2019

Summary

Official Symbol
SNTA1provided by HGNC
Official Full Name
syntrophin alpha 1provided by HGNC
Primary source
HGNC:HGNC:11167
See related
Ensembl:ENSG00000101400 MIM:601017
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SNT1; LQT12; TACIP1; dJ1187J4.5
Summary
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. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
Expression
Broad expression in heart (RPKM 50.7), thyroid (RPKM 41.8) and 19 other tissues See more
Orthologs

Genomic context

See SNTA1 in Genome Data Viewer
Location:
20q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (33407957..33443892, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31995763..32031698, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene BPI fold containing family B member 9, pseudogene Neighboring gene CDK5 regulatory subunit associated protein 1 Neighboring gene VISTA enhancer hs2173 Neighboring gene CBFA2/RUNX1 translocation partner 2 Neighboring gene chromosome 20 open reading frame 144 Neighboring gene N-terminal EF-hand calcium binding protein 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntrophin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
nitric-oxide synthase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to sodium channel regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with lateral plasma membrane TAS
Traceable Author Statement
more info
PubMed 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntrophin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
alpha-1-syntrophin
Names
59 kDa dystrophin-associated protein A1 acidic component 1
acidic alpha 1 syntrophin
dystrophin-associated protein A1, 59kDa, acidic component
pro-TGF-alpha cytoplasmic domain-interacting protein 1
syntrophin-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011622.1 RefSeqGene

    Range
    5001..40936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_332

mRNA and Protein(s)

  1. NM_003098.2NP_003089.1  alpha-1-syntrophin

    See identical proteins and their annotated locations for NP_003089.1

    Status: REVIEWED

    Source sequence(s)
    AU118614, U40571
    Consensus CDS
    CCDS13220.1
    UniProtKB/Swiss-Prot
    Q13424
    Related
    ENSP00000217381.2, ENST00000217381.2
    Conserved Domains (4) summary
    smart00233
    Location:298401
    PH; Pleckstrin homology domain
    cd00992
    Location:86167
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01258
    Location:209270
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:298401
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    33407957..33443892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260517.1XP_005260574.1  alpha-1-syntrophin isoform X1

    Conserved Domains (4) summary
    smart00233
    Location:298401
    PH; Pleckstrin homology domain
    cd00992
    Location:86167
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01258
    Location:209270
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:298401
    PH; PH domain
  2. XM_011529008.1XP_011527310.1  alpha-1-syntrophin isoform X3

    Conserved Domains (4) summary
    smart00233
    Location:298401
    PH; Pleckstrin homology domain
    cd00992
    Location:86167
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01258
    Location:209270
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:298401
    PH; PH domain
  3. XM_011529007.1XP_011527309.1  alpha-1-syntrophin isoform X2

    Conserved Domains (4) summary
    smart00233
    Location:298401
    PH; Pleckstrin homology domain
    cd00992
    Location:86167
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01258
    Location:209270
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:298401
    PH; PH domain
  4. XM_024451971.1XP_024307739.1  alpha-1-syntrophin isoform X4

    Conserved Domains (3) summary
    cd00992
    Location:158
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01258
    Location:100161
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:189292
    PH; PH domain
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