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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 **21 - 30** of 52 in total

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DO ID	Disease Name	Source
DOID:11482	hemopericardium	DisGeNET
DOID:118	pericardial effusion	DisGeNET
DOID:11832	visual epilepsy	DisGeNET
DOID:12721	multiple epiphyseal dysplasia	DisGeNET
DOID:12804	mucopolysaccharidosis IV	DisGeNET
DOID:1287	cardiovascular system disease	DisGeNET
DOID:13515	tuberous sclerosis	DisGeNET
DOID:14323	Marfan syndrome	DisGeNET
DOID:14695	galactokinase deficiency	DisGeNET
DOID:1681	heart septal defect	DisGeNET

The Human Phenotype Ontology

Displaying entries **21 - 30** of **137** in total

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HPO ID	HPO Term
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000368	Low-set, posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000430	Underdeveloped nasal alae
HP:0000444	Convex nasal ridge
HP:0000470	Short neck
HP:0000473	Torticollis
HP:0000474	Thickened nuchal skin fold

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 **41 - 50** of 69 in total

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Species	Gene ID	Orthologous MAtrix
Vombatus ursinus	114032123	VOMUR26546
Bos indicus x Bos taurus	113905866	BOBOX35291
Takifugu rubripes	101070455	TAKRU11710
Chinchilla lanigera	102019374	CHILA03342
Aotus nancymaae	105729622	AOTNA05604
Phascolarctos cinereus	110210691	PHACI04208
Saimiri boliviensis boliviensis	101031322	SAIBB06639
Jaculus jaculus	101604689	JACJA18257
Scophthalmus maximus	118300793	SCOMX23894
Rhinolophus ferrumequinum	117030371	RHIFE29671

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