ALG9

ALG9
Identifiers
Aliases	ALG9 , CDG1L, DIBD1, LOH11CR1J, alpha-1,2-mannosyltransferase, GIKANIS, ALG9 alpha-1,2-mannosyltransferase
External IDs	OMIM: 606941; MGI: 1924753; HomoloGene: 6756; GeneCards: ALG9; OMA:ALG9 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q23.1 Start 111,782,195 bp [1] End 111,871,581 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 A5.3 Start 50,686,319 bp [2] End 50,754,842 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell body of pancreas ganglionic eminence skin of leg ventricular zone skin of abdomen bone marrow cells gastric mucosa stromal cell of endometrium left coronary artery Top expressed in spermatocyte parotid gland spermatid primary oocyte tail of embryo neural tube endocardial cushion seminal vesicula lacrimal gland submandibular gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity mannosyltransferase activity dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity glycosyltransferase activity alpha-1,2-mannosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum Biological process protein glycosylation dolichol-linked oligosaccharide biosynthetic process mannosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79796 102580 Ensembl ENSG00000086848 ENSMUSG00000032059 UniProt Q9H6U8 Q8VDI9 RefSeq (mRNA) NM_001077690 NM_001077691 NM_001077692 NM_024740 NM_001352409 NM_001352410 NM_001352411 NM_001352412 NM_001352413 NM_001352414 NM_001352415 NM_001352416 NM_001352417 NM_001352418 NM_001352419 NM_001352420 NM_001352421 NM_001352422 NM_001352423 NM_133981 RefSeq (protein) NP_001071158 NP_001071159 NP_001071160 NP_079016 NP_001339338 NP_001339339 NP_001339340 NP_001339341 NP_001339342 NP_001339343 NP_001339344 NP_001339345 NP_001339346 NP_001339347 NP_001339348 NP_001339349 NP_001339350 NP_001339351 NP_001339352 NP_598742 Location (UCSC) Chr 11: 111.78 – 111.87 Mb Chr 9: 50.69 – 50.75 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Alpha-1,2-mannosyltransferase ALG9 is an enzyme that in humans is encoded by the ALG9 gene. ^{[5] [6] [7]}

References

1. GRCh38: Ensembl release 89: ENSG00000086848 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032059 – 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. Baysal BE, Willett-Brozick JE, Badner JA, Corona W, Ferrell RE, Nimgaonkar VL, Detera-Wadleigh SD (May 2002). "A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family". Neurogenetics . 4 (1): 43–53. doi:10.1007/s10048-001-0129-x. PMID   12030331. S2CID   39344334.
6. Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T (May 2004). "Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL". Am J Hum Genet . 75 (1): 146–50. doi:10.1086/422367. PMC   1181998 . PMID   15148656.
7. "Entrez Gene: ALG9 asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)".

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• 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.
• Hendricks TJ, Fyodorov DV, Wegman LJ, et al. (2003). "Pet-1 ETS gene plays a critical role in 5-HT neuron development and is required for normal anxiety-like and aggressive behavior". Neuron . 37 (2): 233–47. doi: 10.1016/S0896-6273(02)01167-4 . PMID   12546819. S2CID   16152867.
• Xu X, Stern DF (2003). "NFBD1/MDC1 regulates ionizing radiation-induced focus formation by DNA checkpoint signaling and repair factors". FASEB J. 17 (13): 1842–8. doi: 10.1096/fj.03-0310com . PMID   14519663. S2CID   24870579.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• 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.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Weinstein M, Schollen E, Matthijs G, et al. (2005). "CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features". Am. J. Med. Genet. A . 136 (2): 194–7. doi:10.1002/ajmg.a.30851. PMID   15945070. S2CID   28069253.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature . 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
• Human ALG9 genome location and ALG9 gene details page in the UCSC Genome Browser .