ALG9

Protein-coding gene in the species Homo sapiens
ALG9
Identifiers
AliasesALG9, CDG1L, DIBD1, LOH11CR1J, alpha-1,2-mannosyltransferase, GIKANIS, ALG9 alpha-1,2-mannosyltransferase
External IDsOMIM: 606941; MGI: 1924753; HomoloGene: 6756; GeneCards: ALG9; OMA:ALG9 - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for ALG9
Genomic location for ALG9
Band11q23.1Start111,782,195 bp[1]
End111,871,581 bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for ALG9
Genomic location for ALG9
Band9|9 A5.3Start50,686,319 bp[2]
End50,754,842 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 9: 50.69 – 50.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000086848 – Ensembl, May 2017
  2. ^ a b c 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.


  • v
  • t
  • e
2.4.1: Hexosyl-
transferases
Glucosyl-
Galactosyl-
Glucuronosyl-
Fucosyl-
Mannosyl-
2.4.2: Pentosyl-
transferases
Ribose
ADP-ribosyltransferase
Phosphoribosyltransferase
Other
Other
2.4.99: Sialyl
transferases


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