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DPAGT1 V264G [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4549333
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 V264G [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
HGNC:2995 DPAGT1
KEGG:hsa:1798 DPAGT1
Monarch:1798 DPAGT1
NCBI Gene:1798 DPAGT1
OMIM:191350 DPAGT1
UCSC:Q9H3H5 DPAGT1
Reference Transcript
RefSeq:NM_001382.3 DPAGT1
RefSeq:XM_017017293.1 DPAGT1
Other Identifiers
11720467_s_at
11720468_x_at
11760364_at
11760365_x_at
16745236
16745242
1798
209509_PM_s_at
209509_s_at
212525_3p_s_at
212525_PM_s_at
212525_s_at
3394186
3394187
3394188
3394189
3394190
3394191
3394193
3394194
3394195
3394196
3394197
3394198
3394199
3394200
3394201
3394202
3394203
3394204
3394205
3394206
3394207
3394208
3394209
3394210
3394211
3394212
3394213
3394214
3394215
3394217
35176_at
7952179
7952185
A_23_P1775
GE59719
GE60438
GE85154
GE85156
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:0042802
GO:0043226
GO:0043231
GO:0046872
GO:0055086
GO:1901135
HMNXSV003019013
Hs.147097.1.A1_3p_a_at
ILMN_1692760
ILMN_1744244
ILMN_2200331
PH_hs_0002328
PH_hs_0040597
TC11002362.hg
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 I65N [endoplasmic reticulum membrane]
DPAGT1 M108I [endoplasmic reticulum membrane]
DPAGT1 V117I [endoplasmic reticulum membrane]
DPAGT1 L120M [endoplasmic reticulum membrane]
DPAGT1 Y170C [endoplasmic reticulum membrane]
DPAGT1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-valine 264 replaced with glycine
Coordinate
264
PsiMod
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
ENSEMBL
ENST00000409993
,
ENST00000354202
,
ENSP00000346142
,
ENSP00000386597
OpenTargets
ENSG00000172269
HPA
ENSG00000172269-DPAGT1
PRO
Q9H3H5
Pharos - Targets
Q9H3H5
GlyGen
Q9H3H5
Orphanet
DPAGT1
HMDB Protein
HMDBP01096
PDB
5O5E
,
6JQ3
,
6BW6
,
6BW5
,
5LEV
,
6FWZ
,
6FM9
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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