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MAN1B1 R334C [endoplasmic reticulum quality control compartment]
Stable Identifier
R-HSA-4960924
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum quality control compartment
Synonyms
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase, MA1B1_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective MAN1B1 causes MRT15 (Homo sapiens)
Defective MAN1B1 does not hydrolyse 1,2-linked mannose (a branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
MAN1B1 R334C [endoplasmic reticulum quality control compartment] (Homo sapiens)
Defective MAN1B1 does not hydrolyse 1,2-linked mannose (b branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
MAN1B1 R334C [endoplasmic reticulum quality control compartment] (Homo sapiens)
Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
MAN1B1 R334C [endoplasmic reticulum quality control compartment] (Homo sapiens)
Defective MAN1B1 does not hydrolyse a second 1,2-linked mannose (a branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
MAN1B1 R334C [endoplasmic reticulum quality control compartment] (Homo sapiens)
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
ENSEMBL_homo_sapiens_GENE:ENSG00000177239.16 MAN1B1
HGNC:6823 MAN1B1
KEGG Gene (Homo sapiens):11253 MAN1B1
Monarch:11253 MAN1B1
NCBI Gene:11253 MAN1B1
OMIM:604346 MAN1B1
UCSC:Q9UKM7 MAN1B1
Reference Transcript
RefSeq:NM_016219.4 MAN1B1
Other Identifiers
11253
11721458_s_at
11752272_a_at
11754647_x_at
17091571
218636_PM_s_at
218636_s_at
3195176
3195177
3195178
3195180
3195184
3195188
3195189
3195191
3195194
3195195
3195198
3195199
3195212
3195215
3195217
3195218
3195219
3195221
3195222
3195223
3195224
3195225
3195226
3195227
3195228
3195229
3195230
64339_s_at
65884_PM_at
65884_at
8159566
A_14_P133434
A_23_P94857
GE58443
GO:0003824
GO:0004571
GO:0005509
GO:0005576
GO:0005783
GO:0005789
GO:0005794
GO:0005975
GO:0006486
GO:0008152
GO:0009311
GO:0016020
GO:0016787
GO:0016798
GO:0019082
GO:0030163
GO:0030433
GO:0031410
GO:0036211
GO:0036508
GO:0036509
GO:0043226
GO:0044322
GO:0046872
GO:1901135
GO:1903561
GO:1904380
GO:1904382
HMNXSV003001922
ILMN_1771957
PH_hs_0014418
TC09000838.hg
g7706436_3p_s_at
Participates
as a member of
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
Other forms of this molecule
MAN1B1 W473* [endoplasmic reticulum quality control compartment]
MAN1B1 E397K [endoplasmic reticulum quality control compartment]
MAN1B1 [endoplasmic reticulum quality control compartment]
Modified Residues
Name
L-arginine 334 replaced with L-cysteine
Coordinate
334
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type II
DOID:0050571
Cross References
RefSeq
NP_057303.2
OpenTargets
ENSG00000177239
GeneCards
Q9UKM7
HPA
ENSG00000177239-MAN1B1
ZINC target
Q9UKM7
Ensembl
ENSG00000177239
,
ENSP00000360645
,
ENST00000371589
PRO
Q9UKM7
Pharos - Targets
Q9UKM7
Orphanet
20401
HMDB Protein
HMDBP00869
PDB
5KIJ
,
1FO2
,
5KK7
,
1FMI
,
1FO3
,
1X9D
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