MPLKIP

MPLKIP
Identifiers
Aliases	MPLKIP, ABHS, C7orf11, ORF20, TTD4, M-phase specific PLK1 interacting protein
External IDs	MGI: 1913558 HomoloGene: 32633 GeneCards: MPLKIP
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_079755.1 NP_079755
Location (UCSC)	Chr 7: 40.13 – 40.13 Mb	Chr 13: 17.7 – 17.7 Mb
PubMed search

136647

66308

ENSG00000168303

ENSMUSG00000012429

Q8TAP9

Q9D011

NM_138701

NM_025479

NP_619646

NP_079755.1
NP_079755

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). 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.

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Wikipedia