Homo sapiens Gene: MAN2B1

Summary
InnateDB Gene IDBG-30534.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol MAN2B1
Gene Name mannosidase, alpha, class 2B, member 1
Synonyms LAMAN; MANB
Species Homo sapiens
Ensembl Gene ENSG00000104774
Encoded Proteins
IDBP-30536 mannosidase, alpha, class 2B, member 1
IDBP-372872 mannosidase, alpha, class 2B, member 1
IDBP-764979
IDBP-760590
IDBP-761068
IDBP-766005
Entrez Gene
Summary This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 19: 12757325-12777556
Strand Reverse strand
Band p13.2
Transcripts
ENST00000221363  ENSP00000221363
ENST00000456935  ENSP00000395473
ENST00000433513 
ENST00000469423 
ENST00000480851 
ENST00000493218 
ENST00000466794 
ENST00000495617 
ENST00000465830 
ENST00000462144 
ENST00000486847  ENSP00000470174
ENST00000596512 
ENST00000593686  ENSP00000471685
ENST00000596591  ENSP00000469456
ENST00000595880 
ENST00000598876  ENSP00000470533
ENST00000600281 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein‑Protein  5
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0003824 catalytic activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004559 alpha-mannosidase activity
GO:0005537 mannose binding
GO:0008270 zinc ion binding
GO:0015923 mannosidase activity
GO:0030246 carbohydrate binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006013 mannose metabolic process
GO:0006464 cellular protein modification process
GO:0006517 protein deglycosylation
GO:0007611 learning or memory
Cellular Component
GO:0005764 lysosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000005142 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000006241 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
hsa04142  Lysosome
hsa00511  Other glycan degradation
INOH
PID BIOCARTA
100174 Er associated degradation (erad) pathway [Biocarta view]
PID NCI
Cross-References
SwissProt O00754 
TrEMBL B4E0K9 G5E928
UniProt Splice Variant
Entrez Gene 4125 
UniGene Hs.356769
RefSeq NM_000528  NM_001173498 
HUGO 6826 
OMIM 609458
CCDS CCDS32919  CCDS54224 
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 
ImmGen MAN2B1 (murine) 
RNA Seq Atlas 4125