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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 **31 - 40** of 75 in total

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DO ID	Disease Name	Source
DOID:162	cancer	DisGeNET
DOID:1826	epilepsy	DisGeNET
DOID:1924	hypogonadism	DisGeNET
DOID:219	colon cancer	DisGeNET
DOID:2234	focal epilepsy	DisGeNET
DOID:235	colonic benign neoplasm	DisGeNET
DOID:2527	nephrosis	DisGeNET
DOID:2590	familial nephrotic syndrome	DisGeNET
DOID:2596	larynx cancer	DisGeNET DisGeNET
DOID:2598	laryngeal benign neoplasm	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 50 in total

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HPO ID	HPO Term
HP:0000347	Micrognathia
HP:0000478	Abnormality of the eye
HP:0000486	Strabismus
HP:0000639	Nystagmus
HP:0000924	Abnormality of the skeletal system
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay

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 **21 - 30** of 57 in total

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Species	Gene ID	Orthologous MAtrix
Canis lupus familiaris	490017	CANLF16595
Vulpes vulpes	112923295	VULVU16692
Ailuropoda melanoleuca	100474990	AILME07234
Mustela putorius furo	101681035	MUSPF14286
Felis catus	101091331	FELCA35503
Tursiops truncatus	101322166	TURTR02343
Sus scrofa	100524193	PIGXX20956
Bos taurus	507210	BOVIN20240
Capra hircus	102187731	CAPHI16689
Dipodomys ordii	105982207	DIPOR08111

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UniCarb-DR

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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