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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
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 2** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IBA IMP	15148656 15945070
dolichol-linked oligosaccharide biosynthetic process	IGI TAS	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 3** entries
GO Term	Evidence Code	PMID
lumenal side of endoplasmic reticulum membrane	IC	15148656
endoplasmic reticulum membrane	IBA TAS
membrane	HDA	19946888

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

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	Product	Reference
Dol-P-Man	G48148JS	G39578OU
Dol-P-Man	G44865OQ	G72103RY

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

Orthologous Gene

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

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
R06259	2.4.1.259	G44865OQ G74840NI	G72103RY
R06261	2.4.1.261	G48148JS G74840NI	G39578OU

Disease

Disease Ontology

Displaying entries **11 - 20** of 52 in total

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DO ID	Disease Name	Source
DOID:0070122	Meckel syndrome 8	DisGeNET
DOID:0080564	congenital disorder of glycosylation Il	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0110858	polycystic kidney disease 1	DisGeNET
DOID:10293	monocular esotropia	DisGeNET
DOID:1059	intellectual disability	DisGeNET
DOID:10907	microcephaly	DisGeNET
DOID:11119	Gilles de la Tourette syndrome	DisGeNET
DOID:11175	enophthalmos	DisGeNET
DOID:11328	schizophreniform disorder	DisGeNET
DOID:114	heart disease	DisGeNET

The Human Phenotype Ontology

Displaying entries **31 - 40** of **137** in total

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HPO ID	HPO Term
HP:0000506	Telecanthus
HP:0000520	Proptosis
HP:0000565	Esotropia
HP:0000586	Shallow orbits
HP:0000737	Irritability
HP:0000776	Congenital diaphragmatic hernia
HP:0000790	Hematuria
HP:0000791	Uric acid nephrolithiasis
HP:0000813	Bicornuate uterus
HP:0000822	Hypertension

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

Ortholog

Displaying entries **31 - 40** of 69 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Ovis aries	101109477		SHEEP06072
Dipodomys ordii	105980766		DIPOR02971
Cricetulus griseus	100755062		CRIGR04882
Mus musculus	102580	MGI:1924753	MOUSE60864
Rattus norvegicus	367083	RGD:1311272	RATNO40464
Cavia porcellus	100713205		CAVPO09913
Octodon degus	101571677		OCTDE03277
Heterocephalus glaber	101720220		HETGA15702
Melopsittacus undulatus	101874397		MELUD16482
Ursus maritimus	103662400		URSMA10494

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Other Information

Tools

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Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements