MPLKIP

MPLKIP
Identifiers
Aliases	MPLKIP , ABHS, C7orf11, ORF20, TTD4, M-phase specific PLK1 interacting protein
External IDs	OMIM: 609188 MGI: 1913558 HomoloGene: 32633 GeneCards: MPLKIP
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p14.1 Start 40,126,027 bp [1] End 40,134,622 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13|13 A2 Start 17,869,777 bp [2] End 17,874,333 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior surface of tongue renal medulla thymus pericardium body of tongue trachea pylorus saphenous vein vena cava cardia Top expressed in spermatocyte yolk sac thymus proximal tubule neural tube spermatid ganglionic eminence medial ganglionic eminence lip mirror More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm microtubule organizing center centrosome Golgi apparatus midbody cytoskeleton nucleus nucleoplasm intracellular membrane-bounded organelle Biological process cell cycle cell division Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 136647 66308 Ensembl ENSG00000168303 ENSMUSG00000012429 UniProt Q8TAP9 Q9D011 RefSeq (mRNA) NM_138701 NM_025479 RefSeq (protein) NP_619646 NP_079755 Location (UCSC) Chr 7: 40.13 – 40.13 Mb Chr 13: 17.87 – 17.87 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.

References

1. GRCh38: Ensembl release 89: ENSG00000168303 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000012429 - 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. 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.
6. "Entrez Gene: C7orf11 chromosome 7 open reading frame 11".

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.
• 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, 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.