Syntrophin, alpha 1

SNTA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSNTA1, LQT12, SNT1, TACIP1, dJ1187J4.5, Syntrophin, alpha 1, syntrophin alpha 1
External IDsMGI: 101772 HomoloGene: 2331 GeneCards: SNTA1
Gene location (Human)
Chr.Chromosome 20 (human)[1]
BandNo data availableStart33,407,955 bp[1]
End33,443,892 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 20: 154.38 – 154.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene.[5][6][7]

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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000101400 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027488 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (Mar 1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J Biol Chem. 271 (5): 2724–30. PMID 8576247. doi:10.1074/jbc.271.5.2724.
  6. ↑ Castelló A, Brochériou V, Chafey P, Kahn A, Gilgenkrantz H (Jun 1996). "Characterization of the dystrophin-syntrophin interaction using the two-hybrid system in yeast". FEBS Lett. 383 (1-2): 124–8. PMID 8612778. doi:10.1016/0014-5793(96)00214-1.
  7. 1 2 "Entrez Gene: SNTA1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)".
  8. ↑ Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M (Aug 2008). "Alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.". Circ Arrhytm Electrophysiol. 1 (3): 193–201. PMC 2726717 Freely accessible. PMID 19684871. doi:10.1161/CIRCEP.108.769224.
  9. ↑ Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M (2009). "The genetic basis of long QT and short QT syndromes: a mutation update.". Human Mutation. 30 (11): 1486–511. PMID 19862833. doi:10.1002/humu.21106.
  10. ↑ Yang B, Jung D, Rafael JA, Chamberlain JS, Campbell KP (Mar 1995). "Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin". J. Biol. Chem. 270 (10): 4975–8. PMID 7890602. doi:10.1074/jbc.270.10.4975.
  11. 1 2 3 Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC (Jan 1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". J. Neurosci. 18 (1): 128–37. PMID 9412493.

Further reading


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