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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)

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GO Term	Evidence Code	PMID
protein deglycosylation	TAS	8910458
N-glycan processing
oligosaccharide catabolic process	IEA
learning or memory	IEA
mannose metabolic process	IEA

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 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 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 modification process

protein deglycosylation

macromolecule modification [inference]

protein modification process

protein deglycosylation

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

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

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GO Term	Evidence Code	PMID
intracellular membrane-bounded organelle	IDA
extracellular region	TAS
extracellular space	IDA	25645918
lysosomal lumen	TAS
extracellular exosome	HDA	23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

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
metal ion binding	IEA
carbohydrate 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.

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

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DO ID	Disease Name	Source
DOID:8927	learning disability	DisGeNET
DOID:9649	congenital nystagmus	DisGeNET
DOID:9650	pathologic nystagmus	DisGeNET
DOID:9854	lingual-facial-buccal dyskinesia	DisGeNET

The Human Phenotype Ontology

Displaying entries **21 - 30** of **126** in total

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HPO ID	HPO Term
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000518	Cataract
HP:0000520	Proptosis
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000574	Thick eyebrow

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

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

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Sarcophilus harrisii	100930413		SARHA09090
Callithrix jacchus	100395073		CALJA23091
Cercocebus atys	105571296		CERAT21762
Macaca fascicularis	102137710		MACFA17328
Macaca mulatta	716173		MACMU20846
Macaca mulatta	716302		MACMU20846
Macaca nemestrina	105467373		MACNE12095
Papio anubis	100999431		PAPAN23426
Mandrillus leucophaeus	105550088		MANLE35889
Gorilla gorilla gorilla	101136007		GORGO16297

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.0.0

Last updated: August 19, 2024