MPLKIP

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.

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 17,695,192 bp[2] End 17,699,748 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • microtubule organizing center • centrosome • Golgi apparatus • midbody • cytoskeleton • cell 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: 17.7 – 17.7 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. 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. 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.
• 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.
• 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.
• 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.