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MPDU1 L171Sfs*42

Stable Identifier
R-HSA-4717376
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Mannose-P-dolichol utilization defect 1 protein, MPU1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MPDU1
Chain
initiator methionine:1, chain:2-247
Other Identifiers
0002190136
11716227_a_at
11716228_x_at
11747202_x_at
11747542_a_at
11747543_x_at
11762319_at
14845
209208_at
35791_at
3708875
3708876
3708880
3708881
3708882
3708885
3708886
3708889
3708890
3708892
3708893
3708894
3708895
8004521
9526
A0A0S2Z4W8
A_14_P121020
A_23_P26799
A_24_P198844
A_33_P3268466
AAC39875
AAH01898
AC016876
AF038961
AK075299
AK300083
ALQ33936
BAG52103
BAG61886
BC001898
CCDS11115
CH471108
EAW90161
ENSG00000129255
ENSP00000250124
ENSP00000414071
ENST00000250124
ENST00000423172
EntrezGene:9526
FJ695203
g12001955_3p_at
GE54333
GO:0003674
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0006457
GO:0006488
GO:0006629
GO:0006810
GO:0008150
GO:0009058
GO:0009312
GO:0016020
GO:0016021
GO:0043226
GO:0070062
HGNC:7207
HPA014845
I3L295
ILMN_1655654
ILMN_2070815
IPR006603
IPR016817
KU178478
MIM:604041
MIM:609180
MPDU1
MPDU1-201
MPDU1-204
NM_004870
NP_004861
NR_024603
PF04193
PH_hs_0000676
PH_hs_0035492
SM00679
TC17000104.hg
TC17002037.hg
uc002ghw.4
uc010vuc.2
UPI000013CCA4
UPI00017A7B96
XM_011524081
XP_011522383
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 171 to 211 by SRQPPTTTTGTQASSQPSQSSCCLGAPWPESSLPFRKPEIP
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
GeneCards
PRO
Orphanet