WDR36
From Wikipedia, the free encyclopedia
WD repeat domain 36
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Identifiers | ||||||||||||||
Symbol(s) | WDR36; DKFZp686I1650; GLC1G; TA-WDRP; TAWDRP; UTP21 | |||||||||||||
External IDs | OMIM: 609669 HomoloGene: 6536 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 134430 | n/a | ||||||||||||
Ensembl | ENSG00000134987 | n/a | ||||||||||||
Uniprot | Q8NI36 | n/a | ||||||||||||
Refseq | NM_139281 (mRNA) NP_644810 (protein) |
n/a (mRNA) n/a (protein) |
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Location | Chr 5: 110.46 - 110.49 Mb | n/a | ||||||||||||
Pubmed search | [1] | n/a |
WD repeat domain 36, also known as WDR36, is a human gene.[1]
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).[1]
[edit] References
[edit] 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. doi: . 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: . 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: . PMID 15177553.
- Bernstein KA, Gallagher JE, Mitchell BM, et al. (2005). "The small-subunit processome is a ribosome assembly intermediate.". Eukaryotic Cell 3 (6): 1619-26. doi: . PMID 15590835.
- Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics.". Nature 433 (7021): 77-83. doi: . PMID 15635413.
- Monemi S, Spaeth G, DaSilva A, et al. (2005). "Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.". Hum. Mol. Genet. 14 (6): 725-33. doi: . PMID 15677485.
- 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: . 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: . 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: . 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. 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.