WDR45
| WD repeat domain 45 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | WDR45 ; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4 | ||||||||||||
| External IDs | OMIM: 300526 MGI: 1859606 HomoloGene: 48498 GeneCards: WDR45 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 11152 | 54636 | |||||||||||
| Ensembl | ENSG00000196998 | ENSMUSG00000039382 | |||||||||||
| UniProt | Q9Y484 | Q91VM3 | |||||||||||
| RefSeq (mRNA) | NM_001029896 | NM_001290792 | |||||||||||
| RefSeq (protein) | NP_001025067 | NP_001277721 | |||||||||||
| Location (UCSC) | Chr HG1436_HG1432_PATCH: 48.93 – 48.96 Mb | Chr X: 7.72 – 7.73 Mb | |||||||||||
| PubMed search | |||||||||||||
WD repeat domain phosphoinositide-interacting protein 4 (WIPI-4) is a protein that in humans is encoded by the WDR45 gene.[1][2] Mutations in this gene cause NBIA.[3]
Function
WIPI-4 is 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 has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined.[2]
Role in Disease
De novo loss of function mutations in WDR45 were identified by exome sequencing in 20 patients with Neurodegeneration with brain iron accumulation (NBIA).[3]
See also
References
- ↑ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "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:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- ↑ 2.0 2.1 "Entrez Gene: WDR45 WD repeat domain 45".
- ↑ 3.0 3.1 Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ (Dec 2012). "Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA". Am J Hum Genet. 91 (6): 1144–9. doi:10.1016/j.ajhg.2012.10.019. PMID 23176820.
Further reading
- Proikas-Cezanne T, Waddell S, Gaugel A et al. (2005). "WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy". Oncogene 23 (58): 9314–25. doi:10.1038/sj.onc.1208331. PMID 15602573.
- 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.
- Jeffries TR, Dove SK, Michell RH, Parker PJ (2004). "PtdIns-specific MPR Pathway Association of a Novel WD40 Repeat Protein, WIPI49". Mol. Biol. Cell 15 (6): 2652–63. doi:10.1091/mbc.E03-10-0732. PMC 420090. PMID 15020712.
- 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.
- Clark AG, Glanowski S, Nielsen R et al. (2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios". Science 302 (5652): 1960–3. doi:10.1126/science.1088821. PMID 14671302.
- 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.
- 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.