WDR4

WDR4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3CKK
Identifiers
Aliases	WDR4 , TRM82, TRMT82, WD repeat domain 4, GAMOS6, MIGSB, hWH, Wuho
External IDs	OMIM: 605924 MGI: 1889002 HomoloGene: 32422 GeneCards: WDR4
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.3 Start 42,843,094 bp [1] End 42,879,568 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 B1 Start 31,713,296 bp [2] End 31,738,954 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle pancreatic ductal cell stromal cell of endometrium body of pancreas vagina ganglionic eminence lymph node monocyte right lobe of liver thymus Top expressed in yolk sac primitive streak lens morula medullary collecting duct proximal tubule lip neural tube renal corpuscle internal carotid artery More reference expression data BioGPS n/a
Gene ontology Molecular function tRNA (guanine-N7-)-methyltransferase activity protein binding Cellular component nucleoplasm nucleus cytosol tRNA methyltransferase complex Biological process RNA (guanine-N7)-methylation tRNA modification tRNA processing tRNA (guanine-N7)-methylation tRNA methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10785 57773 Ensembl ENSG00000160193 ENSMUSG00000024037 UniProt P57081 Q9EP82 RefSeq (mRNA) NM_001260474 NM_001260475 NM_001260476 NM_001260477 NM_018669 NM_033661 NM_021322 RefSeq (protein) NP_001247403 NP_001247404 NP_001247405 NP_001247406 NP_061139 NP_387510 NP_067297 Location (UCSC) Chr 21: 42.84 – 42.88 Mb Chr 17: 31.71 – 31.74 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

tRNA (guanine-N(7)-)-methyltransferase subunit WDR4 is an enzyme subunit that in humans is encoded by the WDR4 gene. ^[5]

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.

This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Two transcript variants encoding the same protein have been found for this gene. ^[5]

See also

• Galloway Mowat syndrome (GAMOS6 is related to this gene)

References

1. GRCh38: Ensembl release 89: ENSG00000160193 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024037 - 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. "Entrez Gene: WDR4 WD repeat domain 4".

Further reading

• Michaud J, Kudoh J, Berry A, et al. (2001). "Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein". Genomics. 68 (1): 71–9. doi:10.1006/geno.2000.6258. PMID   10950928.
• Alexandrov A, Martzen MR, Phizicky EM (2002). "Two proteins that form a complex are required for 7-methylguanosine modification of yeast tRNA". RNA. 8 (10): 1253–66. doi:10.1017/S1355838202024019. PMC   1370335 . PMID   12403464.
• 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.
• 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.
• Cartlidge RA, Knebel A, Peggie M, et al. (2005). "The tRNA methylase METTL1 is phosphorylated and inactivated by PKB and RSK in vitro and in cells". EMBO J. 24 (9): 1696–705. doi:10.1038/sj.emboj.7600648. PMC   1142581 . PMID   15861136.
• 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.
• Hu YH, Warnatz HJ, Vanhecke D, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi: 10.1186/1471-2164-7-155 . PMC   1526728 . PMID   16780588.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.