ALG3

Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.^[5][6]

AliasesALG3, CDG1D, CDGS4, D16Ertd36e, NOT56L, Not56, CDGS6, not, alpha-1,3- mannosyltransferase, ALG3 alpha-1,3- mannosyltransferase

External IDsOMIM: 608750; MGI: 1098592; HomoloGene: 4228; GeneCards: ALG3; OMA:ALG3 - orthologs

Chr.Chromosome 3 (human)^[1]

End184,249,548 bp^[1]

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ALG3
Identifiers
Aliases	ALG3, CDG1D, CDGS4, D16Ertd36e, NOT56L, Not56, CDGS6, not, alpha-1,3- mannosyltransferase, ALG3 alpha-1,3- mannosyltransferase
External IDs	OMIM: 608750; MGI: 1098592; HomoloGene: 4228; GeneCards: ALG3; OMA:ALG3 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q27.1 Start 184,242,301 bp[1] End 184,249,548 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 12.48 cM Start 20,424,124 bp[2] End 20,430,485 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon stromal cell of endometrium right lobe of liver right adrenal gland body of pancreas left adrenal gland left adrenal cortex right adrenal cortex gonad granulocyte Top expressed in otic placode tail of embryo otic vesicle choroid plexus of fourth ventricle genital tubercle embryo saccule embryo yolk sac right kidney More reference expression data BioGPS n/a
Gene ontology Molecular function glycosyltransferase activity transferase activity hexosyltransferase activity dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity alpha-1,3-mannosyltransferase activity protein binding mannosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane endoplasmic reticulum membrane integral component of endoplasmic reticulum membrane Biological process protein glycosylation dolichol-linked oligosaccharide biosynthetic process mannosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10195 208624 Ensembl ENSG00000214160 ENSMUSG00000033809 UniProt Q92685 Q8K2A8 RefSeq (mRNA) NM_001006940 NM_001006941 NM_005787 NM_145939 NM_001357403 NM_001357404 NM_001357405 NM_001357406 RefSeq (protein) NP_001006942 NP_005778 NP_666051 NP_001344332 NP_001344333 NP_001344334 NP_001344335 Location (UCSC) Chr 3: 184.24 – 184.25 Mb Chr 16: 20.42 – 20.43 Mb PubMed search [3] [4]
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This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation.^[6]