Homo sapiens Gene: MAN2B1
Summary
InnateDB Gene IDBG-30534.6
Last Modified 2014-10-13 [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
mannosidase, alpha, class 2B, member 1
mannosidase, alpha, class 2B, member 1
Protein Structure
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 19:12646511-12666742
Strand Reverse strand
Band p13.13
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 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004559 alpha-mannosidase activity
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
Cellular Component
GO:0005764 lysosome
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Other glycan degradation pathway
Lysosome pathway
INOH
PID BIOCARTA
Er associated degradation (erad) pathway [Biocarta view]
PID NCI
Cross-References
SwissProt O00754
TrEMBL B4E0K9 M0QYZ1 M0QZG6
UniProt Splice Variant
Entrez Gene 4125
UniGene Hs.356769
RefSeq NM_000528 NM_001173498 XM_005259913
HUGO HGNC: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