WDR36

WDR36
Identifiers
Aliases	WDR36 , GLC1G, TA-WDRP, TAWDRP, UTP21, WD repeat domain 36
External IDs	OMIM: 609669; MGI: 1917819; HomoloGene: 6536; GeneCards: WDR36; OMA:WDR36 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q22.1 Start 111,092,321 bp [1] End 111,130,502 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B1 Start 32,970,278 bp [2] End 33,000,647 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon tibialis anterior muscle deltoid muscle skin of arm pancreatic epithelial cell testicle parietal pleura germinal epithelium gonad mucosa of ileum Top expressed in primary oocyte epiblast lumbar spinal ganglion primitive streak secondary oocyte spermatocyte endothelial cell of lymphatic vessel embryo morula abdominal wall More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA binding Cellular component nucleolus nucleus nucleoplasm small-subunit processome Pwp2p-containing subcomplex of 90S preribosome Biological process retina homeostasis regulation of axon extension ribosome biogenesis response to stimulus visual perception rRNA processing biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 134430 225348 Ensembl ENSG00000134987 ENSMUSG00000038299 UniProt Q8NI36 n/a RefSeq (mRNA) NM_139281 NM_001110015 NM_001110016 NM_144863 RefSeq (protein) NP_644810 n/a Location (UCSC) Chr 5: 111.09 – 111.13 Mb Chr 18: 32.97 – 33 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

WD repeat-containing protein 36 is a protein that in humans is encoded by the WDR36 gene. ^{[5] [6] [7]}

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000134987 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038299 – 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. Bernstein KA, Gallagher JE, Mitchell BM, Granneman S, Baserga SJ (Dec 2004). "The small-subunit processome is a ribosome assembly intermediate". Eukaryot Cell. 3 (6): 1619–26. doi:10.1128/EC.3.6.1619-1626.2004. PMC   539036 . PMID   15590835.
6. Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M (Mar 2005). "Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1". Hum Mol Genet. 14 (6): 725–33. CiteSeerX   10.1.1.542.5801 . doi: 10.1093/hmg/ddi068 . PMID   15677485.
7. "Entrez Gene: WDR36 WD repeat domain 36".

Further reading

• 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.
• 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.
• Mao M, Biery MC, Kobayashi SV, et al. (2005). "T lymphocyte activation gene identification by coregulated expression on DNA microarrays". Genomics. 83 (6): 989–99. doi:10.1016/j.ygeno.2003.12.019. PMID   15177553.
• Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID   15635413. S2CID   4344740.
• Pang CP, Fan BJ, Canlas O, et al. (2006). "A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q". Mol. Vis. 12: 85–92. PMID   16518310.
• Hauser MA, Allingham RR, Linkroum K, et al. (2006). "Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma". Invest. Ophthalmol. Vis. Sci. 47 (6): 2542–6. doi:10.1167/iovs.05-1476. PMID   16723468.
• Hewitt AW, Dimasi DP, Mackey DA, Craig JE (2006). "A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant". Am. J. Ophthalmol. 142 (2): 324–5. doi:10.1016/j.ajo.2006.02.041. PMID   16876519.
• Kramer PL, Samples JR, Monemi S, et al. (2006). "The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region". Arch. Ophthalmol. 124 (9): 1328–31. doi:10.1001/archopht.124.9.1328. PMID   16966629.
• Weisschuh N, Wolf C, Wissinger B, Gramer E (2007). "Variations in the WDR36 gene in German patients with normal tension glaucoma". Mol. Vis. 13: 724–9. PMC   2765470 . PMID   17563723.
• Miyazawa A, Fuse N, Mengkegale M, et al. (2007). "Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese". Mol. Vis. 13: 1912–9. PMID   17960130.