M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein) is a protein that in humans is encoded by the MPLKIPgene (previously known as C7orf11).[5][6] Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well. One patient carries a homozygous deletion of the whole gene area, which indicates that the gene is not essential for embryonic development. TTD can be diagnosed by the presence of tigertail-striped patterns in hair visible under polarised light microscopy, or biochemically by a reduced Cys content of the hairs. Only a minority of the TTD cases carry a MPLKIP defect: more frequently, the gene ERCC2 is mutated, which encodes a subunit of the protein complex TFIIH that is required for general transcription and for nucleotide excision repair of DNA damage.
^ abcGRCh38: Ensembl release 89: ENSG00000168303 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000012429 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW (Feb 2002). "Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome". Genomics. 79 (2): 186–96. doi:10.1006/geno.2002.6695. PMID 11829489.
^"Entrez Gene: C7orf11 chromosome 7 open reading frame 11".
Further readingedit
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. PMC139241. PMID 12477932.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC2882961. PMID 12690205.
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. PMC528928. PMID 15489334.
Nakabayashi K, Amann D, Ren Y, et al. (2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". Am. J. Hum. Genet. 76 (3): 510–6. doi:10.1086/428141. PMC1196401. PMID 15645389.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Botta E, Offman J, Nardo T, et al. (2007). "Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships". Hum. Mutat. 28 (1): 92–6. doi:10.1002/humu.20419. PMID 16977596. S2CID 11256506.
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.
Zhang Y, Tian Y, Chen Q, et al. (2007). "TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity". Cell. Mol. Life Sci. 64 (5): 632–40. doi:10.1007/s00018-007-6501-8. PMID 17310276. S2CID 7761307.
This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.
mplkip, phase, specific, plk1, interacting, protein, photosensitive, protein, protein, that, humans, encoded, gene, previously, known, c7orf11, patients, with, inherited, defect, both, alleles, gene, suffer, from, trichothiodystrophy, disease, hallmarked, brit. M phase specific PLK1 interacting protein TTD non photosensitive 1 protein is a protein that in humans is encoded by the MPLKIP gene previously known as C7orf11 5 6 Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy TTD a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well One patient carries a homozygous deletion of the whole gene area which indicates that the gene is not essential for embryonic development TTD can be diagnosed by the presence of tigertail striped patterns in hair visible under polarised light microscopy or biochemically by a reduced Cys content of the hairs Only a minority of the TTD cases carry a MPLKIP defect more frequently the gene ERCC2 is mutated which encodes a subunit of the protein complex TFIIH that is required for general transcription and for nucleotide excision repair of DNA damage MPLKIPIdentifiersAliasesMPLKIP ABHS C7orf11 ORF20 TTD4 M phase specific PLK1 interacting proteinExternal IDsOMIM 609188 MGI 1913558 HomoloGene 32633 GeneCards MPLKIPGene location Human Chr Chromosome 7 human 1 Band7p14 1Start40 126 027 bp 1 End40 134 622 bp 1 Gene location Mouse Chr Chromosome 13 mouse 2 Band13 13 A2Start17 869 777 bp 2 End17 874 333 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insuperior surface of tonguerenal medullathymuspericardiumbody of tonguetracheapylorussaphenous veinvena cavacardiaTop expressed inspermatocyteyolk sacthymusproximal tubuleneural tubespermatidganglionic eminencemedial ganglionic eminenceliplensMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein bindingCellular componentcytoplasm microtubule organizing center centrosome Golgi apparatus midbody cytoskeleton nucleus nucleoplasm intracellular membrane bounded organelleBiological processcell cycle cell divisionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez13664766308EnsemblENSG00000168303ENSMUSG00000012429UniProtQ8TAP9Q9D011RefSeq mRNA NM 138701NM 025479RefSeq protein NP 619646NP 079755Location UCSC Chr 7 40 13 40 13 MbChr 13 17 87 17 87 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseReferences edit a b c GRCh38 Ensembl release 89 ENSG00000168303 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000012429 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Nakabayashi K Fernandez BA Teshima I Shuman C Proud VK Curry CJ Chitayat D Grebe T Ming J Oshimura M Meguro M Mitsuya K Deb Rinker P Herbrick JA Weksberg R Scherer SW Feb 2002 Molecular genetic studies of human chromosome 7 in Russell Silver syndrome Genomics 79 2 186 96 doi 10 1006 geno 2002 6695 PMID 11829489 Entrez Gene C7orf11 chromosome 7 open reading frame 11 Further reading editStrausberg 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 Scherer SW Cheung J MacDonald JR et al 2003 Human chromosome 7 DNA sequence and biology Science 300 5620 767 72 Bibcode 2003Sci 300 767S doi 10 1126 science 1083423 PMC 2882961 PMID 12690205 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 Nakabayashi K Amann D Ren Y et al 2005 Identification of C7orf11 TTDN1 gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy Am J Hum Genet 76 3 510 6 doi 10 1086 428141 PMC 1196401 PMID 15645389 Beausoleil SA Villen J Gerber SA et al 2006 A probability based approach for high throughput protein phosphorylation analysis and site localization Nat Biotechnol 24 10 1285 92 doi 10 1038 nbt1240 PMID 16964243 S2CID 14294292 Botta E Offman J Nardo T et al 2007 Mutations in the C7orf11 TTDN1 gene in six nonphotosensitive trichothiodystrophy patients no obvious genotype phenotype relationships Hum Mutat 28 1 92 6 doi 10 1002 humu 20419 PMID 16977596 S2CID 11256506 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 Zhang Y Tian Y Chen Q et al 2007 TTDN1 is a Plk1 interacting protein involved in maintenance of cell cycle integrity Cell Mol Life Sci 64 5 632 40 doi 10 1007 s00018 007 6501 8 PMID 17310276 S2CID 7761307 nbsp This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title MPLKIP amp oldid 1142711320, wikipedia, wiki, book, books, library,
