ALG3

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) Band 3q27.1 Start 184,242,301 bp End 184,249,548 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16 A3|16 12.48 cM Start 20,424,124 bp End 20,430,485 bp
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
Wikidata
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Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.

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.

Further reading

• Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments". J. Inherit. Metab. Dis. 27 (3): 423–6. doi:10.1023/B:BOLI.0000031221.44647.9e. PMID 15272470.
• Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr. 16 (4): 434–9. doi:10.1097/01.mop.0000133636.56790.4a. PMID 15273506.
• Stibler H, Stephani U, Kutsch U (1996). "Carbohydrate-deficient glycoprotein syndrome--a fourth subtype". Neuropediatrics. 26 (5): 235–7. doi:10.1055/s-2007-979762. PMID 8552211.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Denecke J, Kranz C, Kemming D, et al. (2004). "An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)". Hum. Mutat. 23 (5): 477–86. doi:10.1002/humu.20026. PMID 15108280.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Denecke J, Kranz C, von Kleist-Retzow JCh, et al. (2005). "Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins". Pediatr. Res. 58 (2): 248–53. doi:10.1203/01.PDR.0000169963.94378.B6. PMID 16006436.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
• ALG3 human gene location in the UCSC Genome Browser.
• ALG3 human gene details in the UCSC Genome Browser.