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1798 DPAGT1

1798

DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

研究结论

Date Results Publications
2021-04-13 10:14:00 Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. 31153949
2021-03-20 13:29:00 NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment. 32901097
2019-06-15 11:09:00 we studied serum asialotransferrin (2009), which revealed a type 1 pattern compatible with type 1 glycosylation. Diagnosis of DPAGT1-CDG was confirmed by massive sequencing, which identified 2 mutations: c.329T>C (p.Phe110Ser, which had not previously been described), and c.902G>A (p.Arg301His) in the DPAGT1 gene. 28712839
2017-09-30 11:59:00 present work improves our knowledge of DPAGT1-CDG and provides bases for developing tailored splicing and folding therapies 28662078
2015-05-02 10:09:00 Data suggest that N-acetylglucosaminyl 1-phosphate transferase is a breast cancer therapeutic target. 25408354

名称对应

Type IDs
Synonymous ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT
Gene
UniProtKB-ID: GPT_HUMAN, A0A024R3H8_HUMAN
UniprotKB: Q9H3H5, A0A024R3H8
UniParc: UPI000012BA3F, UPI000002AAB8, UPI000021FC43
EMBL: CH471065, AF069061, Z82022, BC047771, BC000325, AF070443, BT006802
Ensembl: ENSG00000172269
KO: hsa:1798
Nucleutide sequences
EMBL-CDS: CAB04787.1, AAG43168.1, AAH47771.1, AAP35448.1, AAH00325.1, EAW67453.1, EAW67455.1, EAW67452.1, EAW67454.1
Gene_ORFName: hCG_39397
Ensembl_TRS: ENST00000409993, ENST00000354202
Protein sequencees
Ensembl_PRO: ENSP00000386597, ENSP00000346142
RefSeq: XP_011540950.1, XP_016872783.1, XP_005271479.1, XP_016872782.1, XP_016872784.1, NP_001373.2
Others
UniRef100: UniRef100_Q9H3H5
UniRef90: UniRef90_Q9H3H5
UniRef50: UniRef50_Q9H3H5
UniGene: Hs.524081
CCDS: CCDS8411.1

全选

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