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ALG9 alpha-1,2-mannosyltransferase

Summary

Gene Symbol

ALG9

Aliases

dol-P-Man dependent alpha-1,2-mannosyltransferase
dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

79796

GGDB ID

gg148

HGNC

15672

mRNA

NM_024740

map

11q22-23

Protein

NP_079016

OMIM

606941

KEGG Gene ID

hsa:79796

PubChem

79796

Alliance of Genome Resources

HGNC:15672

Annotation

Keyword

Alternative splicing
Chromosomal rearrangement
Congenital disorder of glycosylation
Disease variant
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Proteomics identification
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9H6U8	Asparagine-linked glycosylation protein 9 homolog Disrupted in bipolar disorder protein 1 Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IMP	15148656 15945070
protein N-linked glycosylation	IBA
dolichol-linked oligosaccharide biosynthetic process	TAS
dolichol-linked oligosaccharide biosynthetic process	IGI	15148656 15945070

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 [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

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 [inference]

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 [inference]

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 [inference]

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 [inference]

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 [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IBA
membrane	HDA	19946888
lumenal side of endoplasmic reticulum membrane	IC	15148656

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

side of membrane [inference]

lumenal side of membrane [inference]

lumenal side of endoplasmic reticulum membrane

Displaying **all 4** entries
GO Term	Evidence Code	PMID
alpha-1,2-mannosyltransferase activity	TAS
alpha-1,2-mannosyltransferase activity	IBA
dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity	IGI	15148656 15945070
dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity	IGI	15148656 15945070

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity [inference]

alpha-1,2-mannosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

mannosyltransferase

Functional Category

M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 5** entries
Gene Ontology
alpha-1,2-mannosyltransferase activity
dol-P-Man
dol-P-Man
protein N-linked glycosylation
transferase activity

Displaying 1 entry
InterPro
GPI mannosyltransferase

Human Protein Atlas

ENSG00000086848

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

gg148

Gene Symbol

ALG9

Reactions

Displaying **all 2** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
Dol-P-Man	G48148JS		G39578OU
Dol-P-Man	G44865OQ		G72103RY

Displaying **all 2** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
Dol-P-Man	G48148JS		G39578OU
Dol-P-Man	G44865OQ		G72103RY

Orthologous Gene

Displaying **all 6** entries
Species	Protein	mRNA
Drosophila melanogaster	NP_651353	NM_143096
Arabidopsis thaliana	NP_173134	NM_101551
Caenorhabditis elegans	NP_496282	NM_063881
Mus musculus	NP_598742	NM_133981
Saccharomyces cerevisiae	CAA96122	Z71495
Rattus norvegicus	XP_345939	XM_345938

KEGG BRITE Database

Orthology

K03846

Name

alpha-1,2-mannosyltransferase [EC:2.4.1.259 2.4.1.261]

References

15148656

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R06261	2.4.1.261	G48148JS G74840NI	G39578OU
R06259	2.4.1.259	G44865OQ G74840NI	G72103RY

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0080564	congenital disorder of glycosylation Il	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **137** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000083	Renal insufficiency
HP:0000105	Enlarged kidney
HP:0000107	Renal cyst
HP:0000113	Polycystic kidney dysplasia
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000193	Bifid uvula
HP:0000219	Thin upper lip vermilion

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:608776	ALG9-congenital disorder of glycosylation
OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome
ORPHA:730	autosomal dominant polycystic kidney disease
ORPHA:79328	ALG9-congenital disorder of glycosylation

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Congenital disorders of glycosylation type I

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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements