ALG8

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme encoded in humans by the ALG8 gene.^[5]

AliasesALG8, CDG1H, alpha-1,3-glucosyltransferase, PCLD3, ALG8 alpha-1,3-glucosyltransferase

External IDsOMIM: 608103; MGI: 2141959; HomoloGene: 6931; GeneCards: ALG8; OMA:ALG8 - orthologs

Chr.Chromosome 11 (human)^[1]

End78,139,660 bp^[1]

Quick facts Identifiers, Aliases ...

ALG8
Identifiers
Aliases	ALG8, CDG1H, alpha-1,3-glucosyltransferase, PCLD3, ALG8 alpha-1,3-glucosyltransferase
External IDs	OMIM: 608103; MGI: 2141959; HomoloGene: 6931; GeneCards: ALG8; OMA:ALG8 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q14.1 Start 78,095,244 bp[1] End 78,139,660 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 E1 Start 97,020,813 bp[2] End 97,041,392 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis epithelium of colon ventricular zone testicle right lobe of liver right adrenal gland left adrenal cortex right adrenal cortex stromal cell of endometrium Top expressed in tail of embryo genital tubercle spermatocyte yolk sac Paneth cell otic vesicle ventricular zone endothelial cell of lymphatic vessel zygote spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function glycosyltransferase activity transferase activity hexosyltransferase activity alpha-1,3-mannosyltransferase activity dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity protein binding dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process protein glycosylation dolichol-linked oligosaccharide biosynthetic process protein N-linked glycosylation oligosaccharide-lipid intermediate biosynthetic process mannosylation protein N-linked glycosylation via asparagine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79053 381903 Ensembl ENSG00000159063 ENSMUSG00000035704 UniProt Q9BVK2 Q6P8H8 RefSeq (mRNA) NM_001007027 NM_001007028 NM_024079 NM_199035 RefSeq (protein) NP_001007028 NP_076984 NP_950200 Location (UCSC) Chr 11: 78.1 – 78.14 Mb Chr 7: 97.02 – 97.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Close

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified.^[5]