7wwb

Structural highlights

Disease

CTL1_HUMAN The disease is caused by variants affecting the gene represented in this entry.

Function

CTL1_HUMAN Choline/H+ antiporter (PubMed:19357133, PubMed:23651124, PubMed:31855247, PubMed:33789160). Also acts as a high-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for the CDP-Etn pathway, redistribute intracellular Etn and balance the CDP-Cho and CDP-Etn arms of the Kennedy pathway (PubMed:33789160). Involved in membrane synthesis and myelin production (PubMed:31855247).^{[1] [2] [3] [4]}

References

1. ↑ Michel V, Bakovic M. The solute carrier 44A1 is a mitochondrial protein and mediates choline transport. FASEB J. 2009 Aug;23(8):2749-58. doi: 10.1096/fj.08-121491. Epub 2009 Apr 8. PMID:19357133 doi:http://dx.doi.org/10.1096/fj.08-121491
2. ↑ Song P, Rekow SS, Singleton CA, Sekhon HS, Dissen GA, Zhou M, Campling B, Lindstrom J, Spindel ER. Choline transporter-like protein 4 (CTL4) links to non-neuronal acetylcholine synthesis. J Neurochem. 2013 Aug;126(4):451-61. PMID:23651124 doi:10.1111/jnc.12298
3. ↑ Fagerberg CR, Taylor A, Distelmaier F, Schroder HD, Kibaek M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbol EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M. Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. Brain. 2020 Jan 1;143(1):94-111. doi: 10.1093/brain/awz376. PMID:31855247 doi:http://dx.doi.org/10.1093/brain/awz376
4. ↑ Taylor A, Grapentine S, Ichhpuniani J, Bakovic M. Choline transporter-like proteins 1 and 2 are newly identified plasma membrane and mitochondrial ethanolamine transporters. J Biol Chem. 2021 Jan-Jun;296:100604. PMID:33789160 doi:10.1016/j.jbc.2021.100604