9m0s

Structural highlights

Disease

ACATN_HUMAN Congenital cataract-hearing loss-severe developmental delay syndrome;Autosomal dominant spastic paraplegia type 42. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.

Function

ACATN_HUMAN Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein substrates, such as BACE1 (PubMed:20826464, PubMed:24828632). Necessary for O-acetylation of gangliosides (PubMed:9096318).^{[1] [2] [3] [4]}

References

1. ↑ Jonas MC, Pehar M, Puglielli L. AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability. J Cell Sci. 2010 Oct 1;123(Pt 19):3378-88. PMID:20826464 doi:10.1242/jcs.068841
2. ↑ Peng Y, Li M, Clarkson BD, Pehar M, Lao PJ, Hillmer AT, Barnhart TE, Christian BT, Mitchell HA, Bendlin BB, Sandor M, Puglielli L. Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer. J Neurosci. 2014 May 14;34(20):6772-89. PMID:24828632 doi:10.1523/JNEUROSCI.0077-14.2014
3. ↑ Mao F, Li Z, Zhao B, Lin P, Liu P, Zhai M, Liu Q, Shao C, Sun W, Gong Y. Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. Hum Mutat. 2015 Feb;36(2):240-9. PMID:25402622 doi:10.1002/humu.22732
4. ↑ 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. Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):2897-902. PMID:9096318 doi:10.1073/pnas.94.7.2897