DPM1 G111Lfs*45 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-4717383
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
DPM1
Chain
initiator methionine:1, chain:2-260
Other Identifiers
0005340139
11754523_a_at
16920287
202673_at
34879_at
3909397
3909398
3909399
3909400
3909403
3909404
3909409
3909412
3909416
3909418
3909419
3909424
3909427
3909428
51818
8067017
8813
A0A0S2Z4Y5
A_23_P68472
AAC98797
AAH07073
AAH08466
AAH16322
AF007875
AF007875_at
AK289569
AL034553
ALQ33902
BAA25646
BAA25647
BAF82258
BC007073
BC008466
BC016322
CAG33207
CCDS13434
CR456926
D86198
D86202
DPM1
DPM1-203
ENSG00000000419
ENSP00000360644
ENST00000371588
EntrezGene:8813
g4503362_3p_at
GE56109
GO:0003674
GO:0004169
GO:0004582
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0006464
GO:0006486
GO:0006506
GO:0006629
GO:0008150
GO:0009058
GO:0016020
GO:0016740
GO:0016757
GO:0019348
GO:0032991
GO:0033185
GO:0035268
GO:0035269
GO:0043226
GO:0044281
HGNC:3005
HPA051818
ILMN_1658992
ILMN_2105308
IPR001173
IPR029044
KU178444
MIM:603503
MIM:608799
NM_001317036
NM_003859
NP_001303965
NP_003850
PF00535
PH_hs_0000522
Q5QPJ9
TC20000940.hg
uc002xvw.2
UPI0000129751
XM_011529093
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 111 to 154 by LLWMLISHTIQNLFLNLLGSKRRVILILSLELATKEMEVYMAGI
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
OpenTargets
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein