ALG12 (original) (raw)

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Enzyme-coding gene in humans

ALG12
Identifiers
Aliases	ALG12, CDG1G, ECM39, PP14673, halpha-1,6-mannosyltransferase, ALG12 alpha-1,6-mannosyltransferase
External IDs	OMIM: 607144; MGI: 2385025; HomoloGene: 36269; GeneCards: ALG12; OMA:ALG12 - orthologs
Gene location (Human)Chr.Chromosome 22 (human)[1]Band22q13.33Start49,900,229 bp[1]End49,918,438 bp[1]
Gene location (Mouse)Chr.Chromosome 15 (mouse)[2]Band15|15 E3Start88,689,447 bp[2]End88,703,521 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright lobe of thyroid glandstromal cell of endometriumleft lobe of thyroid glandapex of heartbody of stomachright lobe of livermucosa of transverse colongranulocytebody of pancreastesticleTop expressed inspermatidzygoteyolk sacgranulocyteright kidneytail of embryolumbar spinal ganglionspermatocytegenital tubercleislet of LangerhansMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase transferase activity alpha-1,6-mannosyltransferase activity glycosyltransferase activity mannosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum endoplasmic reticulum lumen Biological process protein glycosylation dolichol-linked oligosaccharide biosynthetic process protein folding mannosylation protein N-linked glycosylation Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez79087223774EnsemblENSG00000182858ENSMUSG00000035845UniProtQ9BV10Q8VDB2RefSeq (mRNA)NM_024105NM_001142357NM_145477RefSeq (protein)NP_077010NP_001135829NP_663452Location (UCSC)Chr 22: 49.9 – 49.92 MbChr 15: 88.69 – 88.7 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene.[5][6]

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig) characterized by abnormal N-glycosylation.[6]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182858 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035845 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (Jul 2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase". J Biol Chem. 277 (28): 25815–22. doi:10.1074/jbc.M203285200. PMID 11983712.
6. ^ a b "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)".

• 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. S2CID 7608163.

• 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.

• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.

• Thiel C, Schwarz M, Hasilik M, et al. (2003). "Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig". Biochem. J. 367 (Pt 1): 195–201. doi:10.1042/BJ20020794. PMC 1222867. PMID 12093361.

• Grubenmann CE, Frank CG, Kjaergaard S, et al. (2003). "ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg". Hum. Mol. Genet. 11 (19): 2331–9. doi:10.1093/hmg/11.19.2331. PMID 12217961.

• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

• Zdebska E, Bader-Meunier B, Schischmanoff PO, et al. (2004). "Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig". Pediatr. Res. 54 (2): 224–9. doi:10.1203/01.PDR.0000072327.55955.F7. PMID 12736397.

• Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.

• 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.

• Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

• Human ALG12 genome location and ALG12 gene details page in the UCSC Genome Browser.