Gene Gene information from NCBI Gene database.
Entrez ID 136647
Gene name M-phase specific PLK1 interacting protein
Gene symbol MPLKIP
Synonyms (NCBI Gene)
ABHSC7orf11ORF20TTD4
Chromosome 7
Chromosome location 7p14.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
350
miRTarBase ID miRNA Experiments Reference
MIRT043354 hsa-miR-331-3p CLASH 23622248
MIRT723768 hsa-miR-548c-3p HITS-CLIP 19536157
MIRT723767 hsa-miR-4282 HITS-CLIP 19536157
MIRT723766 hsa-miR-3607-3p HITS-CLIP 19536157
MIRT723765 hsa-miR-8055 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17310276, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 17310276
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609188 16002 ENSG00000168303
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TAP9
Protein name M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein)
Protein function May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15502 MPLKIP 94 179 M-phase-specific PLK1-interacting protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed at highest levels in liver and kidney; intermediate expression in skeletal muscle, pancreas, heart and placenta; low expression in brain and lung. Expressed in epidermis and hair follicles. {ECO:0000269|PubMed:11829489, ECO:0
Sequence
MQRQNFRPPTPPYPGPGGGGWGSGSSFRGTPGGGGPRPPSPRDGYGSPHHTPPYGPRSRP
YGSSHSPRHGGSFPGGRFGSPSPGGYPGSYSRSPAGSQQQFGYSPGQQQTHPQGSPRTST
PFGSGRVREKRMSNELENYFKPSMLEDPWAGLEPVSVVDISQQYSNTQTFTGKKGRYFC
Sequence length 179
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Trichothiodystrophy 1, photosensitive Pathogenic rs768342562 RCV000202381
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichothiodystrophy 4, nonphotosensitive Pathogenic; Likely pathogenic rs2150561563, rs137853117, rs587776531, rs587776532, rs878854339, rs869312900, rs2484133876 RCV001806299
RCV000001918
RCV000001919
RCV000001921
RCV000001922
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MPLKIP-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRICHORRHEXIS NODOSA SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY GenCC, Orphanet
GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY SYNDROMES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration HPO_DG
★☆☆☆☆
Found in Text Mining only
Amish Brittle Hair Brain Syndrome Amish Brittle Hair Brain Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Bilateral microphthalmos Microphthalmos HPO_DG
★☆☆☆☆
Found in Text Mining only
Bronchospasm Bronchospasm HPO_DG
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 26880286
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 26880286 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral cortical atrophy Cerebral cortical atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only