Acetyl-coenzyme A transporter 1 explained

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.^[1]

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.^[1]

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.^[1]

Further reading

• Kanamori A, Nakayama J, Fukuda MN, Stallcup WB, Sasaki K, Fukuda M, Hirabayashi Y . 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 . April 1997 . 9096318 . 20294 . 10.1073/pnas.94.7.2897 . 1997PNAS...94.2897K . free .
• Jonas MC, Pehar M, Puglielli L . AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability . Journal of Cell Science . 123 . Pt 19 . 3378–88 . October 2010 . 20826464 . 2939804 . 10.1242/jcs.068841 .
• 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 . 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 . September 2010 . 20461110 . 2987419 . 10.1038/ejhg.2010.68 .
• Pehar M, Jonas MC, Hare TM, Puglielli L . SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway . The Journal of Biological Chemistry . 287 . 35 . 29921–30 . August 2012 . 22787145 . 3436137 . 10.1074/jbc.M112.363911 . free .
• 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 . 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 . December 2008 . 19061983 . 2668077 . 10.1016/j.ajhg.2008.11.003 .
• 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 . 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 . January 2012 . 22243965 . 3257879 . 10.1016/j.ajhg.2011.11.030 .
• Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y . Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred . Prenatal Diagnosis . 30 . 5 . 485–6 . May 2010 . 20306460 . 10.1002/pd.2485 . 6533085 .
• Hirabayashi Y, Kanamori A, Nomura KH, Nomura K . The acetyl-CoA transporter family SLC33 . Pflügers Archiv . 447 . 5 . 760–2 . February 2004 . 12739170 . 10.1007/s00424-003-1071-6 . 21247182 .

Notes and References

1. Web site: Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1 .