Acetyl-coenzyme A transporter 1
Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.[5]
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| Aliases | SLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603690 MGI: 1332247 HomoloGene: 3476 GeneCards: SLC33A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III.[5]
Clinical significance
Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent.[5]
References
- GRCh38: Ensembl release 89: ENSG00000169359 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000027822 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1".
Further reading
- Kanamori A, Nakayama J, Fukuda MN, Stallcup WB, Sasaki K, Fukuda M, Hirabayashi Y (April 1997). "Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter". Proceedings of the National Academy of Sciences of the United States of America. 94 (7): 2897–902. Bibcode:1997PNAS...94.2897K. doi:10.1073/pnas.94.7.2897. PMC 20294. PMID 9096318.
- Jonas MC, Pehar M, Puglielli L (October 2010). "AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability". Journal of Cell Science. 123 (Pt 19): 3378–88. doi:10.1242/jcs.068841. PMC 2939804. PMID 20826464.
- Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L (September 2010). "A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)". European Journal of Human Genetics. 18 (9): 1065–7. doi:10.1038/ejhg.2010.68. PMC 2987419. PMID 20461110.
- Pehar M, Jonas MC, Hare TM, Puglielli L (August 2012). "SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway". The Journal of Biological Chemistry. 287 (35): 29921–30. doi:10.1074/jbc.M112.363911. PMC 3436137. PMID 22787145.
- Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y (December 2008). "A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)". American Journal of Human Genetics. 83 (6): 752–9. doi:10.1016/j.ajhg.2008.11.003. PMC 2668077. PMID 19061983.
- Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J (January 2012). "Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin". American Journal of Human Genetics. 90 (1): 61–8. doi:10.1016/j.ajhg.2011.11.030. PMC 3257879. PMID 22243965.
- Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y (May 2010). "Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred". Prenatal Diagnosis. 30 (5): 485–6. doi:10.1002/pd.2485. PMID 20306460. S2CID 6533085.
- Hirabayashi Y, Kanamori A, Nomura KH, Nomura K (February 2004). "The acetyl-CoA transporter family SLC33". Pflügers Archiv. 447 (5): 760–2. doi:10.1007/s00424-003-1071-6. PMID 12739170. S2CID 21247182.
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