MPLKIP (M-phase specific PLK1 interacting protein)

2007-02-01  

Identity

HGNC
MPLKIP
LOCATION
7p14.1
LOCUSID
136647
ALIAS
ABHS,C7orf11,ORF20,TTD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 136647
MIM: 609188
HGNC: 16002
Ensembl: ENSG00000168303

Variants:

dbSNP: 136647
ClinVar: 136647
TCGA: ENSG00000168303
COSMIC: MPLKIP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168303ENST00000306984Q8TAP9
ENSG00000168303ENST00000306984A4D1W6

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
375070192023Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain.0
378006822023Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.2
375070192023Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain.0
378006822023Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.2
337296672021A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.1
337296672021A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.1
330436332020Trichothiodystrophy type 4 in an Indian family.2
330436332020Trichothiodystrophy type 4 in an Indian family.2
294216012018Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.8
294216012018Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.8
268802862016Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.4
268802862016Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.4
252906842015Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.17
265181682015A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.2
252906842015Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.17

Citation

Dessen P

MPLKIP (M-phase specific PLK1 interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45788/img/js/lib/gene-fusions-explorer/