SNTA1

Protein identityUniProt · HPA

UniProt accession

Q13424

Gene

SNTA1

Ensembl

ENSG00000101400

Chromosome

20

Canonical length

505 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

505 residues, UniProt reviewed canonical sequence.

>Q13424|SNTA1
     1  MASGRRAPRT GLLELRAGAG SGAGGERWQR VLLSLAEDVL TVSPADGDPG PEPGAPREQE
    61  PAQLNGAAEP GAGPPQLPEA LLLQRRRVTV RKADAGGLGI SIKGGRENKM PILISKIFKG
   121  LAADQTEALF VGDAILSVNG EDLSSATHDE AVQVLKKTGK EVVLEVKYMK DVSPYFKNST
   181  GGTSVGWDSP PASPLQRQPS SPGPTPRNFS EAKHMSLKMA YVSKRCTPND PEPRYLEICS
   241  ADGQDTLFLR AKDEASARSW ATAIQAQVNT LTPRVKDELQ ALLAATSTAG SQDIKQIGWL
   301  TEQLPSGGTA PTLALLTEKE LLLYLSLPET REALSRPART APLIATRLVH SGPSKGSVPY
   361  DAELSFALRT GTRHGVDTHL FSVESPQELA AWTRQLVDGC HRAAEGVQEV STACTWNGRP
   421  CSLSVHIDKG FTLWAAEPGA ARAVLLRQPF EKLQMSSDDG ASLLFLDFGG AEGEIQLDLH
   481  SCPKTIVFII HSFLSAKVTR LGLLA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SNTA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

306 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SNTA1.

Disease | AllUniProt

Conditions SNTA1 is implicated in, by any mechanism.

• Long QT syndrome 12 (LQT12) MIM:612955

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.71

gnomAD pLI

0.01

gnomAD missense Z

1.17

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• muscle contraction
• positive regulation of Rac protein signal transduction
• regulation of heart rate
• regulation of sodium ion transmembrane transport
• regulation of ventricular cardiac muscle cell membrane repolarization
• ventricular cardiac muscle cell action potential

Molecular functions

• actin binding
• ATPase binding
• calmodulin binding
• dystroglycan binding
• molecular adaptor activity
• nitric-oxide synthase binding
• PDZ domain binding
• sodium channel regulator activity
• structural molecule activity
• transmembrane transporter binding

Cellular components

• anchoring junction
• cytoskeleton
• dystrophin-associated glycoprotein complex
• neuromuscular junction
• plasma membrane
• protein-containing complex
• sarcolemma
• syntrophin complex

Protein domainsUniProt · Pfam · InterPro

• PDZ domain
• Pleckstrin homology domain
• PH-like domain superfamily
• Syntrophin
• PDZ superfamily
• Syntrophin, split Pleckstrin homology (PH) domain
• Syntrophin, C-terminal PH domain
• PH domain
• PDZ domain
• PH domain
• Syntrophin C-terminal PH domain

KeywordsUniProt

• Actin-binding
• Calcium
• Calmodulin-binding
• Cell junction
• Cell membrane
• Cytoplasm
• Cytoskeleton
• Long QT syndrome
• Membrane
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of SNTA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DTNB
• GA
• MYOC
• SNTB2
• TGFA
• UTRN
• DMD