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11041 B4GAT1

11041

B4GAT1

beta-1,4-glucuronyltransferase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition beta-1,4-glucuronyltransferase 1

研究结论

Date Results Publications
2016-04-16 10:16:00 B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan. 25279697
2014-08-09 12:34:00 report describes the first truncating mutation in B3GNT1 and confirms that this gene, which plays a role in alphaDG glycosylation, is a bona fide disease gene in Walker-Warburg syndrome 23877401
2013-11-16 11:09:00 These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of alpha-dystroglycan and implicate B3GNT1 as a novel causative gene for Walker-Warburg syndrome. 23359570
2010-01-21 00:00:00 These results identify a previously undescribed role of carbohydrate-dependent cell-basement membrane interaction in tumor suppression and its control by beta3GnT1 and LARGE. 19587235
2010-01-21 00:00:00 These results demonstrate that B3GNT1 and B4GALT1 physically associate in vitro and in cultured cells, providing insight into possible mechanisms for regulation of polyLacNAc production. 19261593

名称对应

Type IDs
Synonymous B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT
Gene
UniProtKB-ID: B4GA1_HUMAN, A0A024R5F9_HUMAN
UniprotKB: O43505, A0A024R5F9
UniParc: UPI00000358A1
EMBL: AF029893, BC021965, DQ066422, CH471076
Ensembl: ENSG00000174684
KO: hsa:11041
Nucleutide sequences
EMBL-CDS: AAY46155.1, AAC39538.1, AAH21965.1, EAW74518.1, EAW74517.1
Gene_ORFName: hCG_20172
Ensembl_TRS: ENST00000311181
Protein sequencees
Ensembl_PRO: ENSP00000309096
RefSeq: NP_006867.1
Others
UniRef100: UniRef100_O43505
UniRef90: UniRef90_O43505
UniRef50: UniRef50_O43505
UniGene: Hs.8526
CCDS: CCDS8136.1

全选

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