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ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Summary

Gene Symbol

ALG1

Aliases

CDG1K
HMAT1
HMT-1
Mat-1

Organism

Homo sapiens (human)

External Links

NCBI Gene

56052

GGDB ID

gg142

HGNC

18294

mRNA

NM_019109

map

16p13.3

Protein

NP_061982

OMIM

605907

KEGG Gene ID

hsa:56052

PubChem

56052

Alliance of Genome Resources

HGNC:18294

Annotation

Keyword

Alternative splicing
Congenital disorder of glycosylation
Disease variant
Endoplasmic reticulum
Glycosyltransferase
Phosphoprotein
Proteomics identification
Reference proteome
Signal
Signal-anchor
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9BT22	Asparagine-linked glycosylation protein 1 homolog Beta-1,4-mannosyltransferase GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase GDP-mannose-dolichol diphosphochitobiose mannosyltransferase Mannosyltransferase-1
A0A804HJL6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IDA	14973778 26931382
dolichol-linked oligosaccharide biosynthetic process	IDA TAS	14973778
protein glycosylation	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

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

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

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

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation

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

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 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IBA
endoplasmic reticulum membrane	TAS
cytoplasmic side of endoplasmic reticulum membrane	ISS
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]

cytoplasmic side of membrane [inference]

cytoplasmic side of endoplasmic reticulum membrane

Displaying **all 2** entries
GO Term	Evidence Code	PMID
chitobiosyldiphosphodolichol beta-mannosyltransferase activity	IDA TAS	14973778
mannosyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity

beta-1,4-mannosyltransferase activity [inference]

chitobiosyldiphosphodolichol beta-mannosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000033011

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

gg142

Gene Symbol

ALG1

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
GDP-Man	G05026ZL	G65996GC

Displaying 1 entry
Donor	Acceptor	Product	Reference
GDP-Man	G05026ZL	G65996GC

Orthologous Gene

Displaying **all 5** entries
Species	Protein	mRNA
Saccharomyces cerevisiae	CAA85067	Z35979
Rattus norvegicus	XP_340751	XM_340751
Drosophila melanogaster	NP_650662	NM_142405
Caenorhabditis elegans	NP_498420	NM_066019
Mus musculus	NP_663337	NM_145362

KEGG BRITE Database

Orthology

K03842

Name

beta-1,4-mannosyltransferase [EC:2.4.1.142]

References

10704531

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05972	2.4.1.142	G05026ZL	G65996GC

Rhea

RHEA:13865

GDP-α-D-mannose

H⁺ + GDP

Enzyme

2.4.1.142

PMID

6215245

Disease

Disease Ontology

Displaying entries **11 - 20** of 75 in total

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DO ID	Disease Name	Source
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1	DisGeNET
DOID:10907	microcephaly	DisGeNET
DOID:10952	nephritis	DisGeNET DisGeNET
DOID:11175	enophthalmos	DisGeNET
DOID:11577	Cauda equina syndrome	DisGeNET
DOID:11832	visual epilepsy	DisGeNET DisGeNET DisGeNET
DOID:1184	nephrotic syndrome	DisGeNET
DOID:11949	Creutzfeldt-Jakob disease	DisGeNET
DOID:11984	hypertrophic cardiomyopathy	DisGeNET DisGeNET
DOID:12143	neurogenic bladder	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 50 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000077	Abnormality of the kidney
HP:0000083	Renal insufficiency
HP:0000100	Nephrotic syndrome
HP:0000135	Hypogonadism
HP:0000233	Thin vermilion border
HP:0000239	Large fontanelles
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000316	Hypertelorism

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:79327	ALG1-congenital disorder of glycosylation
OMIM:608540	ALG1-congenital disorder of glycosylation

PubChem Disease

GHR Health Conditions

ALG1-congenital disorder of glycosylation

MedGen Diseases

ALG1-congenital disorder of glycosylation

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K

KEGG Diseases

Congenital disorders of glycosylation type I

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP005763
Gene Name: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

Ortholog

Displaying entries **1 - 10** of 57 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	175920	WB:WBGene00020820
Drosophila melanogaster	42146	FB:FBgn0038552
Callorhinchus milii	103178836		CALMI16462
Latimeria chalumnae	102355761		LATCH10669
Danio rerio	334161	ZFIN:ZDB-GENE-030131-6093	DANRE31242
Ictalurus punctatus	108256341		ICTPU25280
Electrophorus electricus	113572876		ELEEL11975
Salmo salar	106565682		SALSA111354
Salmo salar	106594383		SALSA111354
Salmo trutta	115147231		SALTR26450

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements