• Gene id: 6640

Gene Summary

• Gene Symbol: SNTA1   Gene   UCSC   Ensembl
• Aliases: LQT12, SNT1, TACIP1, dJ1187J4.5
• Gene name: syntrophin alpha 1
• Alternate names: alpha-1-syntrophin, 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,
• Gene location: 20q11.21 (33443852: 33407956)     Exons: 9     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 600871

Protein Summary

• Protein general information: Q13424  
  • Name: Alpha 1 syntrophin (59 kDa dystrophin associated protein A1 acidic component 1) (Pro TGF alpha cytoplasmic domain interacting protein 1) (TACIP1) (Syntrophin 1)
  • Length: 505  
  • Mass: 53895
  • Tissue specificity: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
• Sequence:

  MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQEPAQLNGAAEPGAGPP
  QLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKGLAADQTEALFVGDAILSVNGEDLSSATHDE
  AVQVLKKTGKEVVLEVKYMKDVSPYFKNSTGGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKR
  CTPNDPEPRYLEICSADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
  TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPYDAELSFALRTGTRHG
  VDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRPCSLSVHIDKGFTLWAAEPGAARAVLLRQPF
  EKLQMSSDDGASLLFLDFGGAEGEIQLDLHSCPKTIVFIIHSFLSAKVTRLGLLA

• Structural information:
  • Protein Domains: (6..26-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (87..17-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (293..40-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (449-)
  • Interpro: IPR001478  IPR036034  IPR011993  IPR001849  IPR041428   IPR028552  IPR015482  
  • Prosite: PS50106 PS50003
  • CDD: cd01258
  • DIP: 966
  • STRING: ENSP00000217381
• Other Databases: GeneCards:  SNTA1  Malacards:  SNTA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045202	synapse	IBA	cellular component
GO:0042383	sarcolemma	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042383	sarcolemma	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0017080	sodium channel regulator activity	IMP	contributes to
GO:0050998	nitric-oxide synthase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0016013	syntrophin complex	TAS	cellular component
GO:0016328	lateral plasma membrane	TAS	colocalizes with
GO:0086005	ventricular cardiac muscle cell action potential	IMP	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation	IMP	biological process
GO:1902305	regulation of sodium ion transmembrane transport	IMP	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Long QT syndrome	KEGG:H00720
Long QT syndrome	KEGG:H00720
Long QT syndrome	PMID:19684871
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881