Biology:SLC33A1

Generic protein structure example

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.

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.

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.

Further reading

• "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. doi:10.1073/pnas.94.7.2897. PMID 9096318. 
• "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. doi:10.1242/jcs.068841. PMID 20826464. 
• "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. doi:10.1038/ejhg.2010.68. PMID 20461110. 
• "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. doi:10.1074/jbc.M112.363911. PMID 22787145. 
• "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. doi:10.1016/j.ajhg.2008.11.003. PMID 19061983. 
• "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. doi:10.1016/j.ajhg.2011.11.030. PMID 22243965. 
• "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. doi:10.1002/pd.2485. PMID 20306460. 
• "The acetyl-CoA transporter family SLC33". Pflügers Archiv 447 (5): 760–2. February 2004. doi:10.1007/s00424-003-1071-6. PMID 12739170. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.