Syntrophin, alpha 1

SNTA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1QAV, 1Z86, 1Z87, 2ADZ, 2PDZ, 4HOP
Identifiers
Aliases	SNTA1, LQT12, SNT1, TACIP1, dJ1187J4.5, Syntrophin, alpha 1, syntrophin alpha 1
External IDs	OMIM: 601017 MGI: 101772 HomoloGene: 2331 GeneCards: SNTA1
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.21 Start 33,407,957 bp[1] End 33,443,763 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H1|2 76.52 cM Start 154,218,233 bp[2] End 154,250,019 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle left ventricle putamen caudate nucleus nucleus accumbens amygdala right lobe of thyroid gland triceps brachii muscle left lobe of thyroid gland cingulate gyrus Top expressed in extensor digitorum longus muscle triceps brachii muscle ankle sternocleidomastoid muscle skeletal muscle tissue plantaris muscle temporal muscle masseter muscle tibialis anterior muscle vastus lateralis muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sodium channel regulator activity nitric-oxide synthase binding transmembrane transporter binding ATPase binding structural molecule activity calmodulin binding protein binding actin binding PDZ domain binding Cellular component cytoplasm lateral plasma membrane membrane neuromuscular junction plasma membrane intracellular anatomical structure cell junction sarcolemma syntrophin complex cytoskeleton protein-containing complex dystrophin-associated glycoprotein complex synapse Biological process muscle contraction negative regulation of peptidyl-cysteine S-nitrosylation ventricular cardiac muscle cell action potential regulation of heart rate regulation of sodium ion transmembrane transport regulation of ventricular cardiac muscle cell membrane repolarization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6640 20648 Ensembl ENSG00000101400 ENSMUSG00000027488 UniProt Q13424 Q61234 RefSeq (mRNA) NM_003098 NM_009228 RefSeq (protein) NP_003089 NP_033254 Location (UCSC) Chr 20: 33.41 – 33.44 Mb Chr 2: 154.22 – 154.25 Mb PubMed search [3] [4]
Wikidata
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Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene.^[5][6][7] Alpha-1 syntrophin is a signal transducing adaptor protein and serves as a scaffold for various signaling molecules. Alpha-1 syntrophin contains a PDZ domain, two Pleckstrin homology domain and a 'syntrophin unique' domain.

Function

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes.^[7] The PDZ domain of syntrophin-α1(SNTA1), the most abundant isoform in the heart, has been reported to bind to the C-terminal domain of murine cardiac voltage-gated sodium channels (SkM2) causing altering ion channel activity leading to Long QT syndrome.^[8][9]

Interactions

Syntrophin, alpha 1 has been shown to interact with Dystrophin,^[5][10][11] Nav1.1^[11] and Nav1.5,^[11] and Aquaporin 4.^[12]

References

Further reading

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

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