InnateDB Protein
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IDBP-93062.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MAN1B1
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Protein Name
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mannosidase, alpha, class 1B, member 1
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Synonyms
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ERMAN1; MANA-ER; MRT15;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000360645
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InnateDB Gene
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IDBG-93060 (MAN1B1)
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Protein Structure
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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}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:10409699}; Single-pass type II membrane protein {ECO:0000269PubMed:10409699}.
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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.
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Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:10409699, ECO:0000269PubMed:10521544}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0004571
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mannosyl-oligosaccharide 1,2-alpha-mannosidase activity
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GO:0005509
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calcium ion binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001382
Glycoside hydrolase, family 47
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PFAM |
PF01532
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PRINTS |
PR00747
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UKM7
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PhosphoSite |
PhosphoSite-Q9UKM7
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TrEMBL |
Q8N2P4
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UniProt Splice Variant |
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Entrez Gene |
11253
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UniGene |
Hs.715863
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RefSeq |
NP_057303
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HUGO |
HGNC:6823
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OMIM |
604346
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CCDS |
CCDS7029
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HPRD |
05068
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IMGT |
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EMBL |
AF145732
AF148509
AK074559
AK074699
AL807752
AL929554
AY358465
BC002953
BC006079
CH471090
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GenPept |
AAD45504
AAF03215
AAH02953
AAH06079
AAQ88830
BAC11060
BAG51987
CAH72887
CAI12781
EAW88346
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