LIPID MAPS

LMPD ID

LMP012356

Gene ID

29929

Species

Homo sapiens (Human)

Gene Name

ALG6, alpha-1,3-glucosyltransferase

Gene Symbol

ALG6

Synonyms

CDG1C;

Chromosome

1

Map Location

1p31.3

EC Number

2.4.1.267

Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]

Orthologs

View orthologs and multiple alignments for ALG6

dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase precursor
Refseq ID	NP_037471
Protein GI	38026892
UniProt ID	Q9Y672
mRNA ID	NM_013339
Length	507
MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHWQEITFNLPVKQWYFNSSDNNLQYWGLDYPPLTAYHSLLCAYVAKFINPDWIALHTSRGYESQAHKLFMRTTVLIADLLIYIPAVVLYCCCLKEISTKKKIANALCILLYPGLILIDYGHFQYNSVSLGFALWGVLGISCDCDLLGSLAFCLAINYKQMELYHALPFFCFLLGKCFKKGLKGKGFVLLVKLACIVVASFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVANIWCSFNVFLKIKDILPRHIQLIMSFCSTFLSLLPACIKLILQPSSKGFKFTLVSCALSFFLFSFQVHEKSILLVSLPVCLVLSEIPFMSTWFLLVSTFSMLPLLLKDELLMPSVVTTMAFFIACVTSFSIFEKTSEEELQLKSFSISVRKYLPCFTFLSRIIQYLFLISVITMVLLTLMTVTLDPPQKLPDLFSVLVCFVSCLNFLFFLVYFNIIIMWDSKSGRNQKKIS
sig_peptide: 1..22 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2625 peptide sequence: MEKWYLMTVVVLIGLTVRWTVS

Entrez Gene ID

29929

Gene Name

ALG6, alpha-1,3-glucosyltransferase

Gene Symbol

ALG6

Species

Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0005789	TAS:Reactome	C	endoplasmic reticulum membrane
GO:0016021	IEA:UniProtKB-KW	C	integral component of membrane
GO:0016020	IDA:UniProtKB	C	membrane
GO:0046527	IDA:MGI	F	glucosyltransferase activity
GO:0044267	TAS:Reactome	P	cellular protein metabolic process
GO:0006488	TAS:Reactome	P	dolichol-linked oligosaccharide biosynthetic process
GO:0043687	TAS:Reactome	P	post-translational protein modification
GO:0006487	IGI:UniProtKB	P	protein N-linked glycosylation
GO:0018279	TAS:Reactome	P	protein N-linked glycosylation via asparagine

KEGG Pathway Links

KEGG Pathway ID	Description
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
ko00510	N-Glycan biosynthesis
M00055	N-glycan precursor biosynthesis

BIOCYC Pathway Links

BIOCYC Pathway ID	Description
MANNOSYL-CHITO-DOLICHOL-BIOSYNTHESIS	dolichyl-diphosphooligosaccharide biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID	Description
REACT_22426	Asparagine N-linked glycosylation
REACT_22433	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
REACT_17015	Metabolism of proteins
REACT_22161	Post-translational protein modification

InterPro Annotations

Accession	Description
IPR004856	Glycosyl transferase, ALG6/ALG8

Entry Information

Gene Name

ALG6, alpha-1,3-glucosyltransferase

UniProt ID

Q9Y672

Species

Human

Comments

Comment Type	Description
Catalytic Activity	Dolichyl beta-D-glucosyl phosphate + D-Man- alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha- (1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))- D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D- GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)- D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man- alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha- (1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc- diphosphodolichol + dolichyl phosphate.
Disease	Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269\|PubMed:10359825, ECO:0000269\|PubMed:10914684, ECO:0000269\|PubMed:10924277, ECO:0000269\|PubMed:11106564, ECO:0000269\|PubMed:11134235, ECO:0000269\|PubMed:12357336, ECO:0000269\|PubMed:14517965}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
Pathway	Protein modification; protein glycosylation.
Similarity	Belongs to the ALG6/ALG8 glucosyltransferase family
Subcellular Location	Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein
Web Resource	Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG6";