Homo sapiens Protein: MAN1B1
Summary
InnateDB Protein IDBP-93062.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MAN1B1
Protein Name mannosidase, alpha, class 1B, member 1
Synonyms ERMAN1; MANA-ER; MRT15;
Species Homo sapiens
Ensembl Protein ENSP00000360645
InnateDB Gene IDBG-93060 (MAN1B1)
Protein Structure
UniProt Annotation
Function Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2). {ECO:0000269PubMed:12090241, ECO:0000269PubMed:18003979}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:10409699}; Single-pass type II membrane protein {ECO:0000269PubMed:10409699}.
Disease Associations Mental retardation, autosomal recessive 15 (MRT15) [MIM:614202]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:21763484}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:10409699, ECO:0000269PubMed:10521544}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity
GO:0005509 calcium ion binding
Biological Process
GO:0006457 protein folding
GO:0006487 protein N-linked glycosylation
GO:0009311 oligosaccharide metabolic process
GO:0018279 protein N-linked glycosylation via asparagine
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0044322 endoplasmic reticulum quality control compartment
Protein Structure and Domains
PDB ID
InterPro IPR001382 Glycoside hydrolase, family 47
PFAM PF01532
PRINTS PR00747
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UKM7
PhosphoSite PhosphoSite-Q9UKM7
TrEMBL Q8N2P4
UniProt Splice Variant
Entrez Gene 11253
UniGene Hs.715863
RefSeq NP_057303
HUGO HGNC:6823
OMIM 604346
CCDS CCDS7029
HPRD 05068
IMGT
EMBL AF145732 AF148509 AK074559 AK074699 AL807752 AL929554 AY358465 BC002953 BC006079 CH471090
GenPept AAD45504 AAF03215 AAH02953 AAH06079 AAQ88830 BAC11060 BAG51987 CAH72887 CAI12781 EAW88346