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26301 GBGT1

26301

GBGT1

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)

protein-coding

Homo sapiens

基因描述

Type Description
Definition globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)

研究结论

Date Results Publications
2019-04-20 11:33:00 an amino acid substitution at codon 69 from methionine to threonine or serine (Met69Thr/Ser) modified enzymatic specificity of Blood group A/B glycosyltransferases and permitted FORS1 biosynthesis 29898878
2019-02-16 10:52:00 extended the knowledge of GBGT1 variants, allele frequencies, and the characteristics of naturally occurring antibodies in our newest carbohydrate blood group system, FORS. The finding of c.363C>A-homozygous donors indicates that GBGT1 is dispensable. 30277576
2015-02-28 12:51:00 GBGT1 expression is epigenetically silenced through promoter hypermethylation in ovarian cancer. 25294702
2013-04-27 12:07:00 The Fs synthase gene, GBGT1, in A(pae) individuals encoded an arginine to glutamine change at residue 296. 23255552
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20800603

名称对应

Type IDs
Synonymous A3GALNT, FS, UNQ2513
Gene
UniProtKB-ID: GBGT1_HUMAN, J7Q0Z1_HUMAN
UniprotKB: Q8N5D6, J7Q0Z1
UniParc: UPI000046FE60, UPI00019151E0, UPI000013DB02
EMBL: AL162417, AK314097, AF163572, AK303825, CH471090, AK291498, AK074639, BC032499, AY358175, DQ145941, HE583599
Ensembl: ENSG00000148288
KO: hsa:26301
Nucleutide sequences
EMBL-CDS: BAF84187.1, EAW88045.1, AAF06145.1, BAG36792.1, BAC11106.1, AAZ38721.1, AAQ88542.1, AAH32499.1, BAH14061.1, CCD30590.1
Gene_ORFName: UNQ2513/PRO6002
Ensembl_TRS: ENST00000540636, ENST00000372043, ENST00000372040
Protein sequencees
Ensembl_PRO: ENSP00000437663, ENSP00000361113, ENSP00000361110
RefSeq: NP_001275501.1, NP_001269561.1, NP_001269558.1, NP_001275502.1, NP_068836.2
Others
UniRef100: UniRef100_Q8N5D6
UniRef90: UniRef90_Q8N5D6
UniRef50: UniRef50_Q8N5D6
UniGene: Hs.495419
CCDS: CCDS6960.1, CCDS65176.1, CCDS65175.1

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