UDP-galactose translocator

UDP-galactose translocator is a protein that in humans is encoded by the SLC35A2 gene.^[5][6]

SLC35A2
Identifiers
Aliases	SLC35A2, CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL, solute carrier family 35 member A2
External IDs	OMIM: 314375; MGI: 1345297; HomoloGene: 136614; GeneCards: SLC35A2; OMA:SLC35A2 - orthologs
Gene ___location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 48,903,180 bp[1] End 48,911,958 bp[1]
Gene ___location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.56 cM Start 7,750,267 bp[2] End 7,760,731 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte bronchial epithelial cell palpebral conjunctiva stromal cell of endometrium mucosa of transverse colon olfactory zone of nasal mucosa mucosa of sigmoid colon rectum epithelium of nasopharynx right uterine tube Top expressed in left colon Paneth cell cumulus cell ascending aorta aortic valve crypt of lieberkuhn of small intestine motor neuron lobe of prostate seminal vesicula lacrimal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding UDP-galactose transmembrane transporter activity pyrimidine nucleotide-sugar transmembrane transporter activity Cellular component integral component of membrane Golgi membrane Golgi apparatus endoplasmic reticulum nucleus membrane integral component of Golgi membrane Biological process galactose metabolic process carbohydrate transport UDP-galactose transmembrane transport pyrimidine nucleotide-sugar transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7355 22232 Ensembl ENSG00000102100 ENSMUSG00000031156 UniProt P78381 Q9R0M8 RefSeq (mRNA) NM_005660 NM_001032289 NM_001042498 NM_001282647 NM_001282648 NM_001282649 NM_001282650 NM_001282651 NM_001083937 NM_078484 RefSeq (protein) NP_001027460 NP_001035963 NP_001269576 NP_001269577 NP_001269578 NP_001269579 NP_001269580 NP_005651 NP_001077406 NP_511039 Location (UCSC) Chr X: 48.9 – 48.91 Mb Chr X: 7.75 – 7.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Somatic loss-of-function variants in the SLC35A2 gene were originally associated with focal epilepsy with radiographically nonlesional epilepsy.^[7] Later it was discovered that individuals with somatic variants in SLC35A2 have a mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), which is a subtype of frontal lobe epilepsy.^[8]

See also

• Solute carrier family

References

1. GRCh38: Ensembl release 89: ENSG00000102100 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031156 – 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. Hara T, Yamauchi M, Takahashi E, Hoshino M, Aoki K, Ayusawa D, Kawakita M (November 1993). "The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus". Somatic Cell and Molecular Genetics. 19 (6): 571–5. doi:10.1007/BF01233383. PMID 8128316. S2CID 10466290.
6. "Entrez Gene: SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2".
7. Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AM, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HG, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL (June 2018). "Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy". Ann Neurol. 83 (6): 1133–46. doi:10.1002/ana.25243. PMC 6105543. PMID 29679388.
8. Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, et al. (January 2021). "Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)". Acta Neuropathologica Communications. 9 (1): 3. doi:10.1186/s40478-020-01085-3. PMC 7788938. PMID 33407896.

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Miura N, Ishida N, Hoshino M, Yamauchi M, Hara T, Ayusawa D, Kawakita M (August 1996). "Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator". Journal of Biochemistry. 120 (2): 236–41. doi:10.1093/oxfordjournals.jbchem.a021404. PMID 8889805.
• Ishida N, Miura N, Yoshioka S, Kawakita M (December 1996). "Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family". Journal of Biochemistry. 120 (6): 1074–8. doi:10.1093/oxfordjournals.jbchem.a021523. PMID 9010752.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Yoshioka S, Sun-Wada GH, Ishida N, Kawakita M (October 1997). "Expression of the human UDP-galactose transporter in the Golgi membranes of murine Had-1 cells that lack the endogenous transporter". Journal of Biochemistry. 122 (4): 691–5. doi:10.1093/oxfordjournals.jbchem.a021810. PMID 9399569.
• Aoki K, Ishida N, Kawakita M (June 2001). "Substrate recognition by UDP-galactose and CMP-sialic acid transporters. Different sets of transmembrane helices are utilized for the specific recognition of UDP-galactose and CMP-sialic acid". The Journal of Biological Chemistry. 276 (24): 21555–61. doi:10.1074/jbc.M101462200. PMID 11279205.
• Kumamoto K, Goto Y, Sekikawa K, Takenoshita S, Ishida N, Kawakita M, Kannagi R (June 2001). "Increased expression of UDP-galactose transporter messenger RNA in human colon cancer tissues and its implication in synthesis of Thomsen-Friedenreich antigen and sialyl Lewis A/X determinants". Cancer Research. 61 (11): 4620–7. PMID 11389099.
• Sprong H, Degroote S, Nilsson T, Kawakita M, Ishida N, van der Sluijs P, van Meer G (August 2003). "Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum". Molecular Biology of the Cell. 14 (8): 3482–93. doi:10.1091/mbc.E03-03-0130. PMC 181583. PMID 12925779.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.