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
00510+2.4.1.83
11754523_a_at
16920287
202673_at
34879_at
3909396
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
ENST00000371588.9
EntrezGene:8813
EntrezGene:DPM1
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:0006464
GO:0006486
GO:0006506
GO:0006629
GO:0008150
GO:0009058
GO:0016020
GO:0016740
GO:0016757
GO:0018279
GO:0019348
GO:0032991
GO:0033185
GO:0035268
GO:0035269
GO:0043226
GO:0044281
GO:0097502
HGNC:3005
HPA051818
ILMN_1658992
ILMN_2105308
IPR001173
IPR029044
IPR039528
KU178444
MIM:603503
MIM:608799
NM_001317036
NM_003859
NP_001303965
NP_003850
PF00535
PH_hs_0000522
Q5QPJ9
Q5QPK2
TC20000940.hg
UPI0000129751
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
Orphanet
HMDB Protein
Interactors (2)