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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

JoGo

ALG12

TogoVar

ALG12

Annotation

Keyword

Congenital disorder of glycosylation
Disease variant
Endoplasmic reticulum
Glycosyltransferase
Proteomics identification
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)

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GO Term	Evidence Code	PMID
protein folding	NAS
protein N-linked glycosylation	IMP
protein N-linked glycosylation	IBA
dolichol-linked oligosaccharide biosynthetic process	TAS
dolichol-linked oligosaccharide biosynthetic process	IDA

GO Hierarchy

biological process

cellular process [inference]

protein folding

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate derivative biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate derivative biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

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GO Term	Evidence Code	PMID
endoplasmic reticulum	NAS
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IBA
endoplasmic reticulum membrane	IEA
membrane	HDA

GO Hierarchy

cellular component

cellular anatomical structure [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

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GO Term	Evidence Code	PMID
alpha-1,6-mannosyltransferase activity	IBA
mannosyltransferase activity	TAS
glycosyltransferase activity	IEA
dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity	EXP
dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity	IMP

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity

hexosyltransferase activity [inference]

mannosyltransferase activity

alpha-1,6-mannosyltransferase activity

dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity

GlcNAc(2)-PP-Dol mannosyltransferase activity [inference]

dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

mannosyltransferase

Functional Category

K: Transcription
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
alpha-1,6-mannosyltransferase activity
protein N-linked glycosylation
transferase activity

Displaying 1 entry
InterPro
GPI mannosyltransferase

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	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
Dol-P-Man	G72103RY		G48148JS

Displaying 1 entry
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
Dol-P-Man	G72103RY		G48148JS

Orthologous Gene

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

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 1 entry
DO ID	Disease Name	Source
DOID:0080559	congenital disorder of glycosylation Ig	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

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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