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ALG12 alpha-1,6-mannosyltransferase

Summary

Gene Symbol

ALG12

Aliases

CDG1G
ECM39
dol-P-Man dependent alpha-1,6-mannosyltransferase
dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

79087

GGDB ID

gg151

HGNC

19358

mRNA

NM_024105

map

22q13.33

Protein

NP_077010

OMIM

607144

KEGG Gene ID

hsa:79087

PubChem

79087

Alliance of Genome Resources

HGNC:19358

Annotation

Keyword

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

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9BV10	Asparagine-linked glycosylation protein 12 homolog Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase Mannosyltransferase ALG12 homolog Membrane protein SB87

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IBA IMP	11983712 12093361
dolichol-linked oligosaccharide biosynthetic process	IDA IMP TAS	11983712 12093361
protein folding	NAS	12217961

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]

protein folding

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	NAS	12217961
lumenal side of endoplasmic reticulum membrane	IC	12217961
endoplasmic reticulum membrane	IBA TAS
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

side of membrane [inference]

lumenal side of membrane [inference]

lumenal side of endoplasmic reticulum membrane

Displaying **all 3** entries
GO Term	Evidence Code	PMID
alpha-1,6-mannosyltransferase activity	IBA
mannosyltransferase activity	TAS
dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase	IMP	11983712 12093361

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity

alpha-1,6-mannosyltransferase activity

dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000182858

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

gg151

Gene Symbol

ALG12

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
Dol-P-Man	G72103RY	G48148JS

Displaying 1 entry
Donor	Acceptor	Product	Reference
Dol-P-Man	G72103RY	G48148JS

Orthologous Gene

Displaying **all 5** entries
Species	Protein	mRNA
Saccharomyces cerevisiae	CAA96310	Z71645
Rattus norvegicus	XP_235555	XM_235555
Drosophila melanogaster	NP_649939	NM_141682
Caenorhabditis elegans	NP_505071	NM_072670
Mus musculus	CAD22101	AJ429133

KEGG BRITE Database

Orthology

K03847

Name

alpha-1,6-mannosyltransferase [EC:2.4.1.260]

References

10336995

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R06260	2.4.1.260	G72103RY G74840NI	G48148JS

Disease

Disease Ontology

Displaying entries **11 - 20** of 31 in total

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DO ID	Disease Name	Source
DOID:0110111	atrial heart septal defect 6	DisGeNET
DOID:0110112	atrial heart septal defect 7	DisGeNET
DOID:0110113	atrial heart septal defect 8	DisGeNET
DOID:0110114	atrial heart septal defect 9	DisGeNET
DOID:10003	sensorineural hearing loss	DisGeNET
DOID:10584	retinitis pigmentosa	DisGeNET
DOID:10892	hypospadias	DisGeNET
DOID:11105	fundus albipunctatus	DisGeNET
DOID:11383	cryptorchidism	DisGeNET
DOID:11836	clubfoot	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **109** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000046	Small scrotum
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000119	Abnormality of the genitourinary system
HP:0000219	Thin upper lip vermilion
HP:0000253	Progressive microcephaly
HP:0000276	Long face
HP:0000286	Epicanthus

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:79324	ALG12-congenital disorder of glycosylation
OMIM:607143	ALG12-congenital disorder of glycosylation

PubChem Disease

GHR Health Conditions

ALG12-congenital disorder of glycosylation

MedGen Diseases

ALG12-congenital disorder of glycosylation

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G

KEGG Diseases

Congenital disorders of glycosylation type I

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

Ortholog

Displaying entries **1 - 10** of 82 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	179185	WB:WBGene00022629
Drosophila melanogaster	41191	FB:FBgn0037743
Ciona intestinalis	100177471		CIOIN15919
Danio rerio	569494	ZFIN:ZDB-GENE-041210-295	DANRE34024
Ictalurus punctatus	108279802		ICTPU12564
Electrophorus electricus	113573577		ELEEL13137
Salmo salar	100195409		SALSA49874
Salmo trutta	115180311		SALTR55002
Gadus morhua	115532029		GADMO24143
Oryzias latipes	101171875		ORYLA10935

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