MAN1B1 (mannosidase alpha class 1B member 1)

2007-02-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
ERMAN1,ERManI,MANA-ER,MRT15
FUSION GENES

Other Information

Locus ID:

NCBI: 11253
MIM: 604346
HGNC: 6823
Ensembl: ENSG00000177239

Variants:

dbSNP: 11253
ClinVar: 11253
TCGA: ENSG00000177239
COSMIC: MAN1B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177239ENST00000371587A0A087X064
ENSG00000177239ENST00000371589Q9UKM7
ENSG00000177239ENST00000475449H0YI64
ENSG00000177239ENST00000535144H0YG20
ENSG00000177239ENST00000542372H0YGQ1
ENSG00000177239ENST00000544448H0YGV7
ENSG00000177239ENST00000545539H0YFU3
ENSG00000177239ENST00000550113H0YIU0

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
N-glycan precursor trimmingKEGGhsa_M00073
N-glycan precursor trimmingKEGGM00073
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
ER Quality Control Compartment (ERQC)REACTOMER-HSA-901032

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
127362542003Enhancement of endoplasmic reticulum (ER) degradation of misfolded Null Hong Kong alpha1-antitrypsin by human ER mannosidase I.64
128151012003Elucidation of the molecular logic by which misfolded alpha 1-antitrypsin is preferentially selected for degradation.48
180039792008Endoplasmic reticulum (ER) mannosidase I is compartmentalized and required for N-glycan trimming to Man5-6GlcNAc2 in glycoprotein ER-associated degradation.46
157136682005Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control.34
177278182007Stimulation of ERAD of misfolded null Hong Kong alpha1-antitrypsin by Golgi alpha1,2-mannosidases.34
194448722009Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.31
216975062011Golgi localization of ERManI defines spatial separation of the mammalian glycoprotein quality control system.26
217634842011Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.21
234272612013Golgi-situated endoplasmic reticulum α-1, 2-mannosidase contributes to the retrieval of ERAD substrates through a direct interaction with γ-COP.18
254113392015Mammalian ER mannosidase I resides in quality control vesicles, where it encounters its glycoprotein substrates.18

Citation

Dessen P

MAN1B1 (mannosidase alpha class 1B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46290/man1b1