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mannosidase alpha class 1B member 1

Summary

Gene Symbol

MAN1B1

Aliases

ER alpha 1,2-mannosidase
ERMan1
ERManI
MANA-ER
MRT15
Man9GlcNAc2-specific processing alpha-mannosidase
alpha 1,2-mannosidase
endoplasmic Reticulum Class I alpha-mannosidase
endoplasmic reticulum alpha-mannosidase 1
endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

11253

HGNC

6823

KEGG Gene ID

hsa:11253

PubChem

11253

Alliance of Genome Resources

HGNC:6823

Annotation

Keyword

3D-structure
Calcium
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycosidase
Intellectual disability
Metal-binding
Proteomics identification
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9UKM7	ER alpha-1,2-mannosidase ER mannosidase 1 Man9GlcNAc2-specific-processing alpha-mannosidase Mannosidase alpha class 1B member 1
H0YG20

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
ERAD pathway	IMP	18003979 21062743
oligosaccharide metabolic process	TAS	10409699
viral protein processing	TAS
mannose trimming involved in glycoprotein ERAD pathway	IBA
mannoprotein catabolic process	IDA IMP	10521544 18003979

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

glycoprotein metabolic process [inference]

mannoprotein metabolic process [inference]

mannoprotein catabolic process

glycoprotein catabolic process [inference]

mannoprotein catabolic process

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

protein modification process [inference]

protein glycosylation

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

carbohydrate derivative catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

primary metabolic process [inference]

carbohydrate metabolic process [inference]

oligosaccharide metabolic process

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

glycoprotein metabolic process [inference]

mannoprotein metabolic process [inference]

mannoprotein catabolic process

glycoprotein catabolic process [inference]

mannoprotein catabolic process

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

protein modification process [inference]

protein glycosylation

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

oligosaccharide metabolic process

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

glycoprotein metabolic process [inference]

mannoprotein metabolic process [inference]

mannoprotein catabolic process

glycoprotein catabolic process [inference]

mannoprotein catabolic process

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

protein modification process [inference]

protein glycosylation

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

macromolecule glycosylation [inference]

protein glycosylation

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

mannoprotein metabolic process [inference]

mannoprotein catabolic process

glycoprotein catabolic process [inference]

mannoprotein catabolic process

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

carbohydrate derivative catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

glycoprotein metabolic process [inference]

mannoprotein metabolic process [inference]

mannoprotein catabolic process

glycoprotein catabolic process [inference]

mannoprotein catabolic process

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

protein modification process [inference]

protein glycosylation

protein deglycosylation [inference]

protein deglycosylation involved in glycoprotein catabolic process [inference]

mannose trimming involved in glycoprotein ERAD pathway

protein demannosylation [inference]

protein alpha-1,2-demannosylation

mannose trimming involved in glycoprotein ERAD pathway

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

carbohydrate derivative catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

mannoprotein catabolic process

proteasomal protein catabolic process [inference]

ERAD pathway

cellular process [inference]

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

viral process [inference]

viral protein processing

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

response to chemical [inference]

response to organic substance [inference]

response to organonitrogen compound [inference]

ERAD pathway

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

ERAD pathway

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

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GO Term	Evidence Code	PMID
endosome
endoplasmic reticulum	IBA IDA TAS	18003979 22160784
trans-Golgi network
endoplasmic reticulum quality control compartment	IDA TAS	18003979 21062743
endoplasmic reticulum membrane	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle subcompartment [inference]

Golgi apparatus subcompartment [inference]

trans-Golgi network

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

endosome

extracellular vesicle

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

endosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

endosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle

endoplasmic reticulum quality control compartment

Displaying **all 2** entries
GO Term	Evidence Code	PMID
mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IBA IDA IMP TAS	10521544 12090241 18003979 22160784
calcium ion binding	TAS	10521544

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 [inference]

mannosyl-oligosaccharide mannosidase activity [inference]

mannosyl-oligosaccharide 1,2-alpha-mannosidase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000177239

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

K23741

Name

endoplasmic reticulum Man9GlcNAc2 1,2-alpha-mannosidase [EC:3.2.1.209]

References

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R06722	3.2.1.209	G60230HH	G40702WU

Rhea

RHEA:56028

H₂O

β-D-mannose

Enzyme

3.2.1.113

PMID

RHEA:56008

H₂O

β-D-mannose

Enzyme

3.2.1.113

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0070130	autosomal dominant cutis laxa 1	DisGeNET
DOID:0070131	autosomal dominant cutis laxa 3	DisGeNET
DOID:0070132	autosomal recessive cutis laxa type IIIA	DisGeNET
DOID:0070133	autosomal recessive cutis laxa type IB	DisGeNET
DOID:0070134	autosomal recessive cutis laxa type IIA	DisGeNET
DOID:0070135	autosomal recessive cutis laxa type IA	DisGeNET
DOID:0070136	autosomal dominant cutis laxa 2	DisGeNET
DOID:0070137	autosomal recessive cutis laxa type IIB	DisGeNET
DOID:0070138	autosomal recessive cutis laxa type IIIB	DisGeNET
DOID:0070140	autosomal recessive cutis laxa type IIC	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0004209	Clinodactyly of the 5th finger
HP:0004322	Short stature
HP:0004523	Long eyebrows
HP:0004691	2-3 toe syndactyly
HP:0005338	Sparse lateral eyebrow
HP:0005469	Flat occiput
HP:0007165	Periventricular heterotopia
HP:0007565	Multiple cafe-au-lait spots
HP:0008947	Infantile muscular hypotonia
HP:0010801	Underdeveloped nasolabial fold

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:614202	Rafiq syndrome
ORPHA:397941	MAN1B1-congenital disorder of glycosylation

PubChem Disease

MedGen Diseases

Rafiq syndrome

OMIM Phenotypes

RAFIQ SYNDROME; RAFQS

KEGG Diseases

Autosomal recessive intellectual developmental disorder

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	177726	WB:WBGene00013881
Caenorhabditis elegans	180787	WB:WBGene00020197
Drosophila melanogaster	43436	FB:FBgn0039634
Callorhinchus milii	103180403		CALMI20321
Danio rerio	556237	ZFIN:ZDB-GENE-070705-482	DANRE36389
Danio rerio	562592	ZFIN:ZDB-GENE-091116-34
Astyanax mexicanus	103022471		ASTMX14339
Ictalurus punctatus	108255760		ICTPU17080
Electrophorus electricus	113577930		ELEEL20988
Salmo salar	106579997		SALSA76530

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements