ALG12

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] Band 22q13.33 Start 49,900,229 bp [1] End 49,918,438 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 E3 Start 88,689,447 bp [2] End 88,703,521 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of thyroid gland stromal cell of endometrium left lobe of thyroid gland apex of heart body of stomach right lobe of liver mucosa of transverse colon granulocyte body of pancreas testicle Top expressed in spermatid zygote yolk sac granulocyte right kidney tail of embryo lumbar spinal ganglion spermatocyte genital tubercle islet of Langerhans More reference expression data BioGPS More reference expression data
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 79087 223774 Ensembl ENSG00000182858 ENSMUSG00000035845 UniProt Q9BV10 Q8VDB2 RefSeq (mRNA) NM_024105 NM_001142357 NM_145477 RefSeq (protein) NP_077010 NP_001135829 NP_663452 Location (UCSC) Chr 22: 49.9 – 49.92 Mb Chr 15: 88.69 – 88.7 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

References

1. GRCh38: Ensembl release 89: ENSG00000182858 – Ensembl, May 2017
2. 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. "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)".

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. 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.

External links

• 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 .