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ALG6 alpha-1,3-glucosyltransferase

Summary

Gene Symbol

ALG6

Aliases

dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

29929

GGDB ID

gg146

HGNC

23157

mRNA

NM_013339

map

1p31.3

Protein

NP_037471

OMIM

604566

KEGG Gene ID

hsa:29929

PubChem

29929

Alliance of Genome Resources

HGNC:23157

Annotation

Keyword

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

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9Y672	Asparagine-linked glycosylation protein 6 homolog Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IBA IDA IMP	10359825 10924277 25792706
dolichol-linked oligosaccharide biosynthetic process	IMP TAS	10359825 25792706
oligosaccharide-lipid intermediate biosynthetic process	IBA

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

dolichol-linked oligosaccharide biosynthetic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

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

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

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

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

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

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	10359825
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
glucosyltransferase activity	IDA	10359825
dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	TAS
dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IBA IGI IMP	10359825 25792706

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

glucosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000088035

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

gg146

Gene Symbol

ALG6

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
Dol-P-Glc	G39578OU	G24620AI

Displaying 1 entry
Donor	Acceptor	Product	Reference
Dol-P-Glc	G39578OU	G24620AI

Orthologous Gene

Displaying **all 6** entries
Species	Protein	mRNA
Arabidopsis thaliana	NP_198662	NM_123207
Saccharomyces cerevisiae	CAA99190	Z74910
Rattus norvegicus	XP_342869	XM_342868
Drosophila melanogaster	NP_609393	NM_135549
Caenorhabditis elegans	NP_495685	NM_063284
Mus musculus	NP_848899	NM_178784

Disease

Disease Ontology

Displaying entries **11 - 14** of 14 in total

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DO ID	Disease Name	Source
DOID:539	ophthalmoplegia	DisGeNET
DOID:540	strabismus	DisGeNET
DOID:9306	mechanical strabismus	DisGeNET
DOID:9837	hypertropia	DisGeNET

The Human Phenotype Ontology

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

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HPO ID	HPO Term
HP:0003642	Type I transferrin isoform profile
HP:0004855	Reduced protein S activity
HP:0005543	Reduced protein C activity
HP:0006118	Shortening of all distal phalanges of the fingers
HP:0008150	Elevated serum transaminases during infections
HP:0008373	Puberty and gonadal disorders
HP:0008936	Axial hypotonia
HP:0011968	Feeding difficulties
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0012758	Neurodevelopmental delay

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:79320	ALG6-congenital disorder of glycosylation 1C
OMIM:603147	ALG6-congenital disorder of glycosylation 1C

PubChem Disease

GHR Health Conditions

ALG6-congenital disorder of glycosylation

MedGen Diseases

ALG6-congenital disorder of glycosylation 1C

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C

KEGG Diseases

Congenital disorders of glycosylation type I

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP012356
Gene Name: ALG6, alpha-1,3-glucosyltransferase

Ortholog

Displaying entries **1 - 10** of 83 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	182392	WB:WBGene00007435
Drosophila melanogaster	34409	FB:FBgn0032234
Callorhinchus milii	103188824		CALMI40038
Danio rerio	445327	ZFIN:ZDB-GENE-040808-45	DANRE38887
Astyanax mexicanus	103037923		ASTMX05484
Ictalurus punctatus	108272116		ICTPU02306
Electrophorus electricus	113590342		ELEEL44779
Salmo trutta	115158727		SALTR109200
Gadus morhua	115555135		GADMO07234
Oryzias latipes	101155182		ORYLA13244

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Other Information

Tools

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Summary

External Links

Annotation

GlycoGene Database (GGDB)

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements