Identity
HGNC
LOCATION
7p14.1
LOCUSID
ALIAS
ABHS,C7orf11,ORF20,TTD4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 136647
MIM: 609188
HGNC: 16002
Ensembl: ENSG00000168303
Variants:
dbSNP: 136647
ClinVar: 136647
TCGA: ENSG00000168303
COSMIC: MPLKIP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000168303 | ENST00000306984 | Q8TAP9 |
| ENSG00000168303 | ENST00000306984 | A4D1W6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37507019 | 2023 | Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain. | 0 |
| 37800682 | 2023 | Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. | 2 |
| 37507019 | 2023 | Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain. | 0 |
| 37800682 | 2023 | Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. | 2 |
| 33729667 | 2021 | A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4. | 1 |
| 33729667 | 2021 | A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4. | 1 |
| 33043633 | 2020 | Trichothiodystrophy type 4 in an Indian family. | 2 |
| 33043633 | 2020 | Trichothiodystrophy type 4 in an Indian family. | 2 |
| 29421601 | 2018 | Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3. | 8 |
| 29421601 | 2018 | Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3. | 8 |
| 26880286 | 2016 | Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. | 4 |
| 26880286 | 2016 | Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. | 4 |
| 25290684 | 2015 | Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype. | 17 |
| 26518168 | 2015 | A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred. | 2 |
| 25290684 | 2015 | Mutations 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/mplkip
