| Type | Description |
|---|---|
| Definition | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
| 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 |
| 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
|