SLC33A1
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| Solute carrier family 33 (acetyl-CoA transporter), member 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SLC33A1; ACATN; AT-1; AT1; CCHLND; SPG42 | ||||||||||||
| External IDs | OMIM: 603690 HomoloGene: 3476 GeneCards: SLC33A1 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 9197 | 11416 | |||||||||||
| Ensembl | ENSG00000169359 | ENSMUSG00000027822 | |||||||||||
| UniProt | O00400 | Q99J27 | |||||||||||
| RefSeq (mRNA) | NM_001190992 | NM_001272035 | |||||||||||
| RefSeq (protein) | NP_001177921 | NP_001258964 | |||||||||||
| Location (UCSC) | Chr 3: 155.54 – 155.57 Mb | Chr 3: 63.93 – 63.96 Mb | |||||||||||
| PubMed search | |||||||||||||
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]
References
Further Reading
- Kanamori, A.; Nakayama, J.; Fukuda, M. N.; Stallcup, W. B.; Sasaki, K.; Fukuda, M.; Hirabayashi, Y. (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): 2897–2902. doi:10.1073/pnas.94.7.2897. PMC 20294. PMID 9096318.
- Jonas, M. C.; Pehar, M.; Puglielli, L. (2010). "AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability". Journal of Cell Science 123 (19): 3378–3388. doi:10.1242/jcs.068841. PMC 2939804. PMID 20826464.
- Schlipf, N. A.; Beetz, C.; Schüle, R.; Stevanin, G.; Erichsen, A. K.; Forlani, S.; Zaros, C. C.; Karle, K.; Klebe, S.; Klimpe, S.; Durr, A.; Otto, S.; Tallaksen, C. M. E.; Riess, O.; Brice, A.; Bauer, P.; Schöls, L. (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): 1065–1067. doi:10.1038/ejhg.2010.68. PMC 2987419. PMID 20461110.
- Pehar, M.; Jonas, M. C.; Hare, T. M.; Puglielli, L. (2012). "SLC33A1/AT-1 Protein Regulates the Induction of Autophagy Downstream of IRE1/XBP1 Pathway". Journal of Biological Chemistry 287 (35): 29921–29930. 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. (2008). "A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)". The American Journal of Human Genetics 83 (6): 752–759. doi:10.1016/j.ajhg.2008.11.003. PMC 2668077. PMID 19061983.
- Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; 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, L. B.; Kaler, S. G.; Gärtner, J. (2012). "Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin". The American Journal of Human Genetics 90 (1): 61–68. doi:10.1016/j.ajhg.2011.11.030. PMC 3257879. PMID 22243965.
- Lin, P.; Mao, F.; Liu, Q.; Shao, C.; Yan, C.; Gong, Y. (2010). "Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused bySLC33A1mutation in a Chinese kindred". Prenatal Diagnosis 30 (5): 485–486. doi:10.1002/pd.2485. PMID 20306460.
- Hirabayashi, Y.; Kanamori, A.; Nomura, K. H.; Nomura, K. (2004). "The acetyl-CoA transporter family SLC33". Pfl�gers Archiv European Journal of Physiology 447 (5): 760–762. 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.
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