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Aliases for MPLKIP Gene

Aliases for MPLKIP Gene

  • M-Phase Specific PLK1 Interacting Protein 2 3 5
  • TTD Non-Photosensitive 1 Protein 3 4
  • C7orf11 3 4
  • Chromosome 7 Open Reading Frame 11 2
  • Russell-Silver Syndrome Region 3
  • Non-Photosensitive 1 2
  • Tricothiodystrophy 2
  • ORF20 3
  • TTDN1 4
  • ABHS 3
  • TTD4 3

External Ids for MPLKIP Gene

Previous HGNC Symbols for MPLKIP Gene

  • C7orf11

Summaries for MPLKIP Gene

Entrez Gene Summary for MPLKIP Gene

  • 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]

GeneCards Summary for MPLKIP Gene

MPLKIP (M-Phase Specific PLK1 Interacting Protein) is a Protein Coding gene. Diseases associated with MPLKIP include trichothiodystrophy 4, nonphotosensitive and trichothiodystrophy 1, photosensitive.

UniProtKB/Swiss-Prot for MPLKIP Gene

  • May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.

Gene Wiki entry for MPLKIP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPLKIP Gene

Genomics for MPLKIP Gene

Regulatory Elements for MPLKIP Gene

Promoters for MPLKIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MPLKIP on UCSC Golden Path with GeneCards custom track

Genomic Location for MPLKIP Gene

Chromosome:
7
Start:
40,126,023 bp from pter
End:
40,134,659 bp from pter
Size:
8,637 bases
Orientation:
Minus strand

Genomic View for MPLKIP Gene

Genes around MPLKIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPLKIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPLKIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPLKIP Gene

Proteins for MPLKIP Gene

  • Protein details for MPLKIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAP9-MPLKI_HUMAN
    Recommended name:
    M-phase-specific PLK1-interacting protein
    Protein Accession:
    Q8TAP9

    Protein attributes for MPLKIP Gene

    Size:
    179 amino acids
    Molecular mass:
    19147 Da
    Quaternary structure:
    • Interacts with PLK1; phosphorylation-dependent.

neXtProt entry for MPLKIP Gene

Proteomics data for MPLKIP Gene at MOPED

Post-translational modifications for MPLKIP Gene

  • Phosphorylated during mitosis in the cell cycle probably by CDK1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MPLKIP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MPLKIP Gene

Domains & Families for MPLKIP Gene

Protein Domains for MPLKIP Gene

Suggested Antigen Peptide Sequences for MPLKIP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MPLKIP: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MPLKIP Gene

Function for MPLKIP Gene

Molecular function for MPLKIP Gene

UniProtKB/Swiss-Prot Function:
May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.
genes like me logo Genes that share phenotypes with MPLKIP: view

Human Phenotype Ontology for MPLKIP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MPLKIP Gene

MGI Knock Outs for MPLKIP:

Animal Model Products

CRISPR Products

miRNA for MPLKIP Gene

miRTarBase miRNAs that target MPLKIP

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MPLKIP Gene

Localization for MPLKIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPLKIP Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=The subcellular location is regulated during cell cycle. During interphase located in the nucleus. During mitosis located at the centrosome and dispersed in the cytoplasm. During telophase located in the midbody. Colocalizes with PLK1 at the centrosome in M phase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MPLKIP Gene COMPARTMENTS Subcellular localization image for MPLKIP gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MPLKIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17310276
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 17310276
GO:0005813 centrosome IDA 17310276
genes like me logo Genes that share ontologies with MPLKIP: view

Pathways & Interactions for MPLKIP Gene

SuperPathways for MPLKIP Gene

No Data Available

Interacting Proteins for MPLKIP Gene

SIGNOR curated interactions for MPLKIP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MPLKIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with MPLKIP: view

No data available for Pathways by source for MPLKIP Gene

Drugs & Compounds for MPLKIP Gene

No Compound Related Data Available

Transcripts for MPLKIP Gene

mRNA/cDNA for MPLKIP Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(133) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MPLKIP Gene

M-phase specific PLK1 interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MPLKIP Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b
SP1:
SP2: -

Relevant External Links for MPLKIP Gene

GeneLoc Exon Structure for
MPLKIP
ECgene alternative splicing isoforms for
MPLKIP

Expression for MPLKIP Gene

mRNA expression in normal human tissues for MPLKIP Gene

Protein differential expression in normal tissues from HIPED for MPLKIP Gene

This gene is overexpressed in CD8 Tcells (23.4), Peripheral blood mononuclear cells (17.0), and NK cells (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MPLKIP Gene



SOURCE GeneReport for Unigene cluster for MPLKIP Gene Hs.654989

mRNA Expression by UniProt/SwissProt for MPLKIP Gene

Q8TAP9-MPLKI_HUMAN
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.
genes like me logo Genes that share expression patterns with MPLKIP: view

Protein tissue co-expression partners for MPLKIP Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MPLKIP Gene

Orthologs for MPLKIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPLKIP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MPLKIP 35
  • 93.85 (n)
  • 94.41 (a)
C4H7ORF11 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPLKIP 35
  • 94.6 (n)
  • 93.85 (a)
mouse
(Mus musculus)
Mammalia Mplkip 35
  • 94.16 (n)
  • 91.97 (a)
Mplkip 16
Gm7102 36
  • 82 (a)
OneToMany
Mplkip 36
  • 89 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia MPLKIP 35
  • 99.81 (n)
  • 100 (a)
MPLKIP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mplkip 35
  • 94.65 (n)
  • 92.7 (a)
oppossum
(Monodelphis domestica)
Mammalia MPLKIP 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7ORF11 35
  • 71.72 (n)
  • 71.21 (a)
MPLKIP 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPLKIP 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76001 35
mplkip 35
  • 65.4 (n)
  • 61.36 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29095 35
zebrafish
(Danio rerio)
Actinopterygii mplkip 36
  • 41 (a)
OneToOne
Species with no ortholog for MPLKIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MPLKIP Gene

ENSEMBL:
Gene Tree for MPLKIP (if available)
TreeFam:
Gene Tree for MPLKIP (if available)

Paralogs for MPLKIP Gene

(1) SIMAP similar genes for MPLKIP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MPLKIP: view

No data available for Paralogs for MPLKIP Gene

Variants for MPLKIP Gene

Sequence variations from dbSNP and Humsavar for MPLKIP Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_022940 Trichothiodystrophy 4, non-photosensitive (TTD4)
VAR_036273 A breast cancer sample
rs12146 -- 40,132,906(+) TAATA(G/T)CAACA utr-variant-3-prime
rs11974850 -- 40,132,833(+) GGAAA(C/T)GGTAA utr-variant-3-prime
rs140331901 -- 40,132,335(+) GGAAG(C/T)GATTT downstream-variant-500B

Variation tolerance for MPLKIP Gene

Gene Damage Index Score: 0.56; 12.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPLKIP Gene

HapMap Linkage Disequilibrium report
MPLKIP
Human Gene Mutation Database (HGMD)
MPLKIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MPLKIP Gene

Disorders for MPLKIP Gene

MalaCards: The human disease database

(5) MalaCards diseases for MPLKIP Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichothiodystrophy 4, nonphotosensitive
  • trichothiodystrophy, nonphotosensitive 1
trichothiodystrophy 1, photosensitive
  • amish brittle hair brain syndrome
nonphotosensitive trichothiodystrophy
  • amish brittle hair brain syndrome
developmental disabilities
autosomal recessive disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MPLKI_HUMAN
  • Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity. {ECO:0000269 PubMed:15645389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MPLKIP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPLKIP
genes like me logo Genes that share disorders with MPLKIP: view

No data available for Genatlas for MPLKIP Gene

Publications for MPLKIP Gene

  1. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. (PMID: 11829489) Nakabayashi K. … Scherer S.W. (Genomics 2002) 2 3 4 67
  2. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (PMID: 16977596) Botta E. … Stefanini M. (Hum. Mutat. 2007) 3 23
  3. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. (PMID: 15645389) Nakabayashi K. … Scherer S.W. (Am. J. Hum. Genet. 2005) 3 23
  4. Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype. (PMID: 25290684) Heller E.R. … Kraemer K.H. (J. Invest. Dermatol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MPLKIP Gene

Sources for MPLKIP Gene

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