MAN1B1 W473* [endoplasmic reticulum quality control compartment]

Stable Identifier
R-HSA-4960927
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum quality control compartment
Synonyms
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase, MA1B1_HUMAN
Icon
MAN1B1 W473* [endoplasmic reticulum quality control compartment] icon
MAN1B1 W473* [endoplasmic reticulum quality control compartment] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q9UKM7 MAN1B1
Gene Names
MAN1B1, UNQ747/PRO1477
Chain
chain:1-699
Reference Genes
BioGPS Gene:11253 MAN1B1
COSMIC (genes):MAN1B1 MAN1B1
CTD Gene:11253 MAN1B1
dbSNP Gene:11253 MAN1B1
ENSEMBL:ENSG00000177239 MAN1B1
HGNC:6823 MAN1B1
KEGG:hsa:11253 MAN1B1
Monarch:11253 MAN1B1
NCBI Gene:11253 MAN1B1
OMIM:604346 MAN1B1
UCSC:Q9UKM7 MAN1B1
Reference Transcript
Other Identifiers
11253
11721458_s_at
11752272_a_at
11754647_x_at
11760201_at
17091571
218636_PM_s_at
218636_s_at
3195175
3195176
3195177
3195178
3195179
3195180
3195181
3195182
3195183
3195184
3195185
3195188
3195189
3195190
3195191
3195194
3195195
3195198
3195199
3195200
3195201
3195202
3195203
3195204
3195205
3195206
3195207
3195208
3195209
3195210
3195211
3195212
3195213
3195214
3195215
3195216
3195217
3195218
3195219
3195220
3195221
3195222
3195223
3195224
3195225
3195226
3195227
3195228
3195229
3195230
3195232
3195234
64339_s_at
65884_PM_at
65884_at
8159566
A_14_P116425
A_14_P133434
A_23_P94857
A_33_P3299796
GE58443
GO:0003824
GO:0004559
GO:0004571
GO:0005509
GO:0005783
GO:0005789
GO:0005794
GO:0005975
GO:0006058
GO:0006486
GO:0009100
GO:0009311
GO:0016020
GO:0016787
GO:0016798
GO:0019082
GO:0030163
GO:0031410
GO:0036503
GO:0036508
GO:0043226
GO:0044322
GO:0046872
GO:1901135
GO:1903561
HMNXSV003001498
HMNXSV003001922
HMNXSV003013689
HMNXSV003058381
ILMN_1771957
PH_hs_0014418
TC09000838.hg
g7706436_3p_s_at
Participates
as a member of
Other forms of this molecule
MAN1B1 R334C [endoplasmic reticulum quality control compartment]
MAN1B1 E397K [endoplasmic reticulum quality control compartment]
MAN1B1 [endoplasmic reticulum quality control compartment]
Modified Residues
Name
Nonsense mutation at L-tryptophan 473
Coordinate
473
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Cross References
RefSeq
ENSEMBL
OpenTargets
GeneCards
HPA
ZINC target
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
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