TRANSPORTERS FROM HUMANS:
Transporter Information: | |
Name: | solute carrier family 35 (UDP-galactose transporter), member A2 |
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Symbol: | SLC35A2 |
TC: | 2.A.7.15.1 |
Locations: | Xp11.23-p11.22 |
Aliases: | UGAT, UGT |
Swiss-Prot: | P78381 |
Accession Number: | NM_005660 |
Old Name: | solute carrier family 35 (UDP-galactose transporter), member 2 |
GDB | GDB:454871 |
LocusLink | 7355 |
OMIM | 314375 |
PubMed (8128316): | Hara T, Yamauchi M, Takahashi E, Hoshino M, Aoki K, Ayusawa D, Kawakita M. The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containingthe Wiskott-Aldrich syndrome locus.Somat Cell Mol Genet. 1993 Nov;19(6):571-5. PMID: 8128316 [PubMed - indexed for MEDLINE] We have cloned a segment of the human gene encoding UDP-galactose translocator by genetic complementation of its defective mutant in mouse FM3A cells. Chromosome mapping using fluorescent in situ hybridization revealed that the cloned gene hybridized to the Xp11.23-11.23 region of the X chromosome. This region is shared by the locus of Wiskott-Aldrich syndrome, an X-linked recessive immunodeficiency disorder, characterized by defective sugar chains on cell surface components. Genetic and phenotypic similarities suggest a possible link between UDP-galactose translocator and the Wiskott-Aldrich syndrome (WAS). |
>P78381|S35A2_HUMAN UDP-galactose translocator - Homo sapiens (Human). MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGL TCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHV DPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS |