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ALG11 alpha-1,2-mannosyltransferase

Summary

Gene Symbol

ALG11

Aliases

CDG1P
GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
KIAA0266

Organism

Homo sapiens (human)

External Links

NCBI Gene

440138

GGDB ID

gg201

HGNC

32456

mRNA

NM_001004127

map

13q14.3-21.1

Protein

NP_001004127

OMIM

613666

KEGG Gene ID

hsa:440138

PubChem

440138

Alliance of Genome Resources

HGNC:32456

Annotation

Keyword

Congenital disorder of glycosylation
Disease variant
Endoplasmic reticulum
Glycosyltransferase
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q2TAA5	Asparagine-linked glycosylation protein 11 homolog Glycolipid 2-alpha-mannosyltransferase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IBA IMP	20080937
dolichol-linked oligosaccharide biosynthetic process	IMP	20080937
oligosaccharide-lipid intermediate biosynthetic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

biosynthetic process [inference]

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	IBA IDA TAS	20080937
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 2** entries
GO Term	Evidence Code	PMID
alpha-1,2-mannosyltransferase activity	TAS
GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity	IBA IDA	20080937

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity [inference]

alpha-1,2-mannosyltransferase activity

GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity

glycolipid mannosyltransferase activity [inference]

GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000253710

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

GlycoGene Database (GGDB)

GGDB ID

gg201

Gene Symbol

ALG11

Reactions

Displaying **all 2** entries
Donor	Acceptor	Product	Reference
GDP-Man	G35257SQ	G59406KS
GDP-Man	G43547MI	G35257SQ

Displaying **all 2** entries
Donor	Acceptor	Product	Reference
GDP-Man	G35257SQ	G59406KS
GDP-Man	G43547MI	G35257SQ

Orthologous Gene

Displaying **all 5** entries
Species	Protein	mRNA
Saccharomyces cerevisiae	NP_014350	NC_001146
Rattus norvegicus	XP_341460	XM_341459
Drosophila melanogaster	NP_649340	NM_141083
Caenorhabditis elegans	NP_498606	NM_066205
Mus musculus	NP_898965	NM_183142

KEGG BRITE Database

Orthology

K03844

Name

alpha-1,2-mannosyltransferase [EC:2.4.1.131]

References

11278778

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R06128	2.4.1.131	G35257SQ	G59406KS
R06127	2.4.1.131	G43547MI	G35257SQ

Rhea

RHEA:29523

GDP-α-D-mannose

H⁺ + GDP

Enzyme

2.4.1.131

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 16 in total

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DO ID	Disease Name	Source
DOID:0050570	congenital disorder of glycosylation type I	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0080567	congenital disorder of glycosylation Ip	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:10003	sensorineural hearing loss	DisGeNET
DOID:1059	intellectual disability	DisGeNET
DOID:10907	microcephaly	DisGeNET
DOID:11832	visual epilepsy	DisGeNET
DOID:1443	cerebral degeneration	DisGeNET
DOID:1826	epilepsy	DisGeNET
DOID:5212	congenital disorder of glycosylation	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 52 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000294	Low anterior hairline
HP:0000343	Long philtrum
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000504	Abnormality of vision

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:613661	ALG11-congenital disorder of glycosylation
ORPHA:280071	ALG11-congenital disorder of glycosylation

PubChem Disease

MedGen Diseases

ALG11-congenital disorder of glycosylation

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

KEGG Diseases

Congenital disorders of glycosylation type I

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

Ortholog

Displaying entries **1 - 10** of 98 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	176032	WB:WBGene00015162
Drosophila melanogaster	40402	FB:FBgn0037108
Ciona intestinalis	100180498		CIOIN11690
Callorhinchus milii	103177168		CALMI12372
Latimeria chalumnae	102363993		LATCH02889
Danio rerio	407614	ZFIN:ZDB-GENE-030131-7282	DANRE18152
Astyanax mexicanus	103039495		ASTMX04162
Electrophorus electricus	113585042		ELEEL33830
Salmo salar	100380802		SALSA47986
Salmo salar	106586488		SALSA91719

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements