MPLKIP
Sign in to saveAlso known as ABHS, C7orf11, ORF20, TTD4, M-phase specific PLK1 interacting protein
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 polari
Gene data
MPLKIP- Name
- M-phase specific PLK1 interacting protein
- Type
- protein-coding
- Position
- 40,092,207–40,134,877 (−)
- Aliases
- ABHS, C7orf11, ORF20, TTD4
- Ensembl
- ENSG00000168303
- RefSeq RNA
- NM_138701.4
- RefSeq protein
- NP_619646.1
The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009].
Gene Ontology
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
M-phase specific PLK1 interacting protein
- Symbol
- MPLKIP
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:40,092,207-40,134,877
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 32633
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/136647
- genomic end
- 40134622
- genomic start
- 40126027
- chromosome
- human chromosome 7
- cytogenetic location
- 7p14.1
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
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.
==References==
Excerpted from Wikipedia’s “MPLKIP” article, available under the CC BY-SA 4.0 licence.