Homo sapiens Protein: MAN2B1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-372872.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | MAN2B1 | ||||||||||||||||||||||
Protein Name | mannosidase, alpha, class 2B, member 1 | ||||||||||||||||||||||
Synonyms | LAMAN; MANB; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000395473 | ||||||||||||||||||||||
InnateDB Gene | IDBG-30534 (MAN2B1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. | ||||||||||||||||||||||
Subcellular Localization | Lysosome. | ||||||||||||||||||||||
Disease Associations | Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]: A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities. {ECO:0000269PubMed:12718372, ECO:0000269PubMed:15712269, ECO:0000269PubMed:22161967, ECO:0000269PubMed:9158146, ECO:0000269PubMed:9758606, ECO:0000269PubMed:9915946}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000602
Glycoside hydrolase family 38, N-terminal domain IPR011013 Galactose mutarotase-like domain IPR011330 Glycoside hydrolase/deacetylase, beta/alpha-barrel IPR011682 Glycosyl hydrolase family 38, C-terminal IPR015341 Glycoside hydrolase, family 38, central domain IPR028995 Glycoside hydrolase, families 57/38, central domain |
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PFAM |
PF01074
PF07748 PF09261 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00872
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O00754 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O00754 | ||||||||||||||||||||||
TrEMBL | B4E0K9 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4125 | ||||||||||||||||||||||
UniGene | Hs.356769 | ||||||||||||||||||||||
RefSeq | NP_000519 | ||||||||||||||||||||||
HUGO | HGNC:6826 | ||||||||||||||||||||||
OMIM | 609458 | ||||||||||||||||||||||
CCDS | CCDS32919 | ||||||||||||||||||||||
HPRD | 02007 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC010422 AK303418 BC000736 CH471106 U05572 U60266 U60885 U60886 U60887 U60888 U60889 U60890 U60891 U60892 U60893 U60894 U60895 U60896 U60897 U60898 U60899 U68567 | ||||||||||||||||||||||
GenPept | AAB03816 AAC34130 AAC50812 AAC51362 AAH00736 BAG64471 EAW84279 | ||||||||||||||||||||||