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DPAGT1 I65N [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4549352
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase, GPT_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective DPAGT1 causes CDG-1j, CMSTA2 (Homo sapiens)
Defective DPAGT1 does not transfer GlcNAc to DOLP (Homo sapiens)
DPAGT1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
DPAGT1 I65N [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9H3H5 DPAGT1
Gene Names
DPAGT1, DPAGT2
Chain
chain:1-408
Reference Genes
BioGPS Gene:1798 DPAGT1
COSMIC (genes):DPAGT1 DPAGT1
CTD Gene:1798 DPAGT1
dbSNP Gene:1798 DPAGT1
ENSEMBL:ENSG00000172269 DPAGT1
ENSEMBL_homo_sapiens_GENE:ENSG00000172269.20 DPAGT1
HGNC:2995 DPAGT1
KEGG Gene (Homo sapiens):1798 DPAGT1
Monarch:1798 DPAGT1
NCBI Gene:1798 DPAGT1
OMIM:191350 DPAGT1
UCSC:Q9H3H5 DPAGT1
Reference Transcript
RefSeq:XM_017017293.1 DPAGT1
RefSeq:NM_001382.3 DPAGT1
Other Identifiers
11720467_s_at
11720468_x_at
16745242
1798
209509_PM_s_at
209509_s_at
3394193
3394194
3394195
3394197
3394199
3394201
3394202
3394204
3394206
3394207
3394210
3394212
3394213
3394214
3394215
3394217
35176_at
7952185
A_23_P1775
GE60438
GO:0003824
GO:0003975
GO:0003976
GO:0005515
GO:0005783
GO:0005789
GO:0006047
GO:0006486
GO:0006487
GO:0006488
GO:0006629
GO:0016020
GO:0016740
GO:0016757
GO:0016780
GO:0019348
GO:0036211
GO:0042802
GO:0043226
GO:0043231
GO:0046872
GO:0055086
GO:1901135
HMNXSV003019013
ILMN_1692760
ILMN_1744244
PH_hs_0002328
TC11002363.hg
g12653116_3p_a_at
Participates
as a member of
DPAGT1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
DPAGT1 T234Hfs*116 [endoplasmic reticulum membrane]
DPAGT1 [endoplasmic reticulum membrane]
DPAGT1 V264G [endoplasmic reticulum membrane]
DPAGT1 Y170C [endoplasmic reticulum membrane]
DPAGT1 L120M [endoplasmic reticulum membrane]
DPAGT1 V117I [endoplasmic reticulum membrane]
DPAGT1 M108I [endoplasmic reticulum membrane]
Modified Residues
Name
L-isoleucine 65 replaced with L-asparagine
Coordinate
65
PsiMod
L-asparagine residue [MOD:00012]
A protein modification that effectively converts a source amino acid residue to an L-asparagine.
L-isoleucine removal [MOD:01640]
A protein modification that effectively removes or replaces an L-isoleucine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
XP_016872782.1
,
NP_001373.2
OpenTargets
ENSG00000172269
GeneCards
Q9H3H5
HPA
ENSG00000172269-DPAGT1
Ensembl
ENSP00000386597
,
ENSP00000346142
,
ENST00000409993
,
ENSG00000172269
,
ENST00000354202
PRO
Q9H3H5
Pharos - Targets
Q9H3H5
Orphanet
15885
HMDB Protein
HMDBP01096
PDB
6FWZ
,
6JQ3
,
5LEV
,
6BW6
,
5O5E
,
6FM9
,
6BW5
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P42858 HTT
1
HTT [nucleoplasm]
(R-HSA-9023590)
0.556
3
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