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55343 SLC35C1

55343

SLC35C1

solute carrier family 35 member C1

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 35 member C1

研究结论

Date Results Publications
2016-02-13 12:39:00 two Turkish siblings with a novel mutation in GDP-fucose transporter and features of congenital disorder of glycosylation IIc 25239688
2014-03-08 12:07:00 Fx enzyme and GDP-L-Fuc Tr overexpression in the tumur tissue of colorectal cancer (CRC) patients suggests that GDP-L-Fuc transport to the Golgi apparatus may be an important factor associated with increased alpha(1,6)fucosylation in CRC. 23730929
2012-09-15 11:31:00 In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in SLC35C1, the gene that encodes a GDP-fucose transporter of the Golgi system. (Review) 22134107
2012-09-15 10:23:00 the conserved glycine residues at positions 180 and 277 of SLC35C1 have significant impacts on lectin binding 22492235
2010-01-21 00:00:00 Leukocyte adhesion deficiency II patients display dual defect in functoin ang Golgi expression of FUCT1. 16455955

名称对应

Type IDs
Synonymous CDG2C, FUCT1
Gene
UniProtKB-ID: FUCT1_HUMAN, B3KQH0_HUMAN
UniprotKB: Q96A29, B3KQH0
UniParc: UPI000012A5BB, UPI00001FA067
EMBL: CH471064, AK315473, AK091245, AF323970, AK002182, AC044839, AF326199, AK074929, AK027394, BC001427
Ensembl: ENSG00000181830
KO: hsa:55343
Nucleutide sequences
EMBL-CDS: AAH01427.2, EAW68031.1, BAG37859.1, BAA92126.1, BAB55080.1, AAK51705.1, AAK50397.1, BAG52316.1, BAG52032.1, EAW68032.1
Gene_ORFName: hCG_1785265
Ensembl_TRS: ENST00000442528, ENST00000314134
Protein sequencees
Ensembl_PRO: ENSP00000313318, ENSP00000412408
RefSeq: XP_011518505.1, NP_001138738.1, NP_001138737.1, NP_060859.4, XP_011518504.1
Others
UniRef100: UniRef100_Q96A29
UniRef90: UniRef90_Q96A29
UniRef50: UniRef50_Q96A29
UniGene: Hs.12211
CCDS: CCDS7914.1, CCDS44575.1

全选

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