MPDU1 L74S [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-4717358
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Mannose-P-dolichol utilization defect 1 protein, MPU1_HUMAN
Icon
MPDU1 L74S [endoplasmic reticulum membrane] icon
MPDU1 L74S [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:O75352 MPDU1
Gene Names
MPDU1
Chain
initiator methionine:1, chain:2-247
Reference Genes
BioGPS Gene:9526 MPDU1
COSMIC (genes):MPDU1 MPDU1
CTD Gene:9526 MPDU1
dbSNP Gene:9526 MPDU1
ENSEMBL:ENSG00000129255 MPDU1
ENSEMBL:ENSG00000129255.16 MPDU1
HGNC:7207 MPDU1
KEGG Gene (Homo sapiens):9526 MPDU1
Monarch:9526 MPDU1
NCBI Gene:9526 MPDU1
OMIM:604041 MPDU1
UCSC:O75352 MPDU1
Reference Transcript
Other Identifiers
11716227_a_at
11716228_x_at
11747202_x_at
11747542_a_at
11747543_x_at
11762319_at
16830589
209208_PM_at
209208_at
35791_at
3708876
3708880
3708881
3708882
3708885
3708886
3708889
3708890
3708892
3708893
3708894
3708895
8004521
9526
A_14_P118957
A_14_P121020
A_23_P26799
A_24_P198844
A_33_P3268464
A_33_P3268466
GE54333
GO:0005515
GO:0005783
GO:0005789
GO:0005975
GO:0006457
GO:0006486
GO:0006488
GO:0006629
GO:0009312
GO:0016020
GO:0036211
GO:0043226
GO:1901135
HMNXSV003034102
HMNXSV003053521
ILMN_1655654
PH_hs_0000676
PH_hs_0035492
TC17002037.hg
g12001955_3p_at
Participates
as a member of
Other forms of this molecule
MPDU1 G73E [endoplasmic reticulum membrane]
MPDU1 L171Sfs*42 [endoplasmic reticulum membrane]
MPDU1 M1T [endoplasmic reticulum membrane]
MPDU1 L119P [endoplasmic reticulum membrane]
MPDU1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-leucine 74 replaced with L-serine
Coordinate
74
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9NQG1 MANBL      0.556 3
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