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mannosidase alpha class 2B member 1

Summary

Gene Symbol

MAN2B1

Aliases

LAMAN
lysosomal alpha-mannosidase

Organism

Homo sapiens (human)

External Links

NCBI Gene

4125

HGNC

6826

KEGG Gene ID

hsa:4125

PubChem

4125

Alliance of Genome Resources

HGNC:6826

Annotation

Keyword

Alternative splicing
Direct protein sequencing
Disease variant
Disulfide bond
Glycoprotein
Glycosidase
Lysosome
Metal-binding
Reference proteome
Signal
Zinc
Zymogen

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A8K6A7
O00754	Lysosomal acid alpha-mannosidase Mannosidase alpha class 2B member 1 Mannosidase alpha-B

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
mannose metabolic process	IEA
protein deglycosylation	TAS	8910458
learning or memory	IEA
oligosaccharide catabolic process	IEA
protein modification process	IDA	8910458

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

protein deglycosylation

protein modification process

protein deglycosylation

catabolic process [inference]

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

mannose metabolic process

oligosaccharide metabolic process [inference]

oligosaccharide catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

protein deglycosylation

protein modification process

protein deglycosylation

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

mannose metabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

mannose metabolic process

oligosaccharide metabolic process [inference]

oligosaccharide catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

protein deglycosylation

protein modification process

protein deglycosylation

macromolecule modification [inference]

protein modification process

protein deglycosylation

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

protein deglycosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

protein deglycosylation

protein modification process

protein deglycosylation

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory

behavior [inference]

learning or memory

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
extracellular space	IDA	25645918
nucleoplasm	IDA
lysosome	IBA
azurophil granule lumen	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle

vacuole [inference]

lytic vacuole [inference]

lysosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle

vacuole [inference]

lytic vacuole [inference]

lysosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 3** entries
GO Term	Evidence Code	PMID
alpha-mannosidase activity	IBA
carbohydrate binding	IEA
metal ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds [inference]

mannosidase activity [inference]

alpha-mannosidase activity

binding [inference]

carbohydrate binding

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Alpha mannosidase

Functional Category

G: Carbohydrate transport and metabolism
J: Translation, ribosomal structure and biogenesis

Displaying **all 6** entries
Gene Ontology
alpha-mannosidase activity
catalytic activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity
mannose metabolic process
metal ion binding

Displaying **all 9** entries
InterPro
Galactose mutarotase-like domain superfamily
Glycoside hydrolase 38, N-terminal domain superfamily
Glycoside hydrolase families 57/38, central domain superfamily
Glycoside hydrolase family 38, N-terminal domain
Glycoside hydrolase family 38, central domain superfamily
Glycoside hydrolase family 38, central domain
Glycoside hydrolase/deacetylase, beta/alpha-barrel
Glycosyl hydrolase family 38, C-terminal
Glycosyl hydrolase, all-beta

Human Protein Atlas

ENSG00000104774

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K12311

Name

lysosomal alpha-mannosidase [EC:3.2.1.24]

References

19722277

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R08718	3.2.1.24	G31265VL	G24464VD
R08717	3.2.1.24	G88469YE	G47023PF

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:3413	alpha-mannosidosis	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **121 - 126** of **126** in total

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HPO ID	HPO Term
HP:0011800	Midface retrusion
HP:0011842	Abnormal skeletal morphology
HP:0012157	Subcortical cerebral atrophy
HP:0012368	Flat face
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0012448	Delayed myelination

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:309288	alpha-mannosidosis, adult form
ORPHA:309282	alpha-mannosidosis, infantile form
OMIM:248500	alpha-mannosidosis

PubChem Disease

GHR Health Conditions

Alpha-mannosidosis

MedGen Diseases

Deficiency of alpha-mannosidase

OMIM Phenotypes

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 69 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	4125	Xenbase:XB-GENE-958698
Mus musculus	17159	Xenbase:XB-GENE-958698	MOUSE58637
Xenopus tropicalis	34437	Xenbase:XB-GENE-958698
Xenopus tropicalis	180749	Xenbase:XB-GENE-958698
Bos taurus	282272		BOVIN32520
Rattus norvegicus	361378		RATNO14832
Pan troglodytes	455745		PANTR17293
Canis lupus familiaris	484932		CANLF07819
Felis catus	493697		FELCA03210
Danio rerio	541519		DANRE01910

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Tools

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Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements