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SLC33A1
Identifiers
Aliases	SLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDs	OMIM: 603690; MGI: 1332247; HomoloGene: 3476; GeneCards: SLC33A1; OMA:SLC33A1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q25.31 Start 155,821,024 bp End 155,854,456 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 E1 Start 63,840,928 bp End 63,872,189 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis body of pancreas islet of Langerhans Epithelium of choroid plexus sperm endothelial cell seminal vesicula stromal cell of endometrium kidney tubule caput epididymis Top expressed in lacrimal gland parotid gland seminal vesicula right kidney Epithelium of choroid plexus submandibular gland islet of Langerhans proximal tubule spermatid spermatocyte More reference expression data BioGPS n/a
Gene ontology Molecular function acetyl-CoA transmembrane transporter activity solute:proton symporter activity Cellular component integral component of membrane Golgi membrane integral component of plasma membrane endoplasmic reticulum membrane membrane endoplasmic reticulum Biological process SMAD protein signal transduction BMP signaling pathway transmembrane transport acetyl-CoA transport transport proton transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9197 11416 Ensembl ENSG00000169359 ENSMUSG00000027822 UniProt O00400 Q99J27 RefSeq (mRNA) NM_001190992 NM_004733 NM_001363883 NM_001272035 NM_015728 NM_001331067 RefSeq (protein) NP_001177921 NP_004724 NP_001350812 NP_001258964 NP_001317996 NP_056543 Location (UCSC) Chr 3: 155.82 – 155.85 Mb Chr 3: 63.84 – 63.87 Mb PubMed search
Wikidata
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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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000169359 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000027822 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "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.

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

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