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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
  • M-Phase-Specific PLK1-Interacting Protein 3
  • Tricothiodystrophy, Non-Photosensitive 1 2
  • Chromosome 7 Open Reading Frame 11 2
  • Russell-Silver Syndrome Region 3
  • 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

Additional gene information for MPLKIP Gene

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

Genomics for MPLKIP Gene

GeneHancer (GH) Regulatory Elements for MPLKIP Gene

Promoters and enhancers for MPLKIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I040132 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 578.8 +0.3 265 2.8 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 IRF4 MPLKIP GC07P040132 SUGCT CDK13 CICP22 ENSG00000228554 ENSG00000259826 LINC00265 LOC100101126 YAE1D1
GH07I039565 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.2 +568.2 568197 1.9 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B YAE1D1 LOC105375240 CDK13 MPLKIP RALA LINC00265 GC07M039569
GH07I039732 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE 9.9 +400.5 400463 3.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT SIN3A FEZF1 IRF4 E2F8 ZNF207 LINC00265 CDK13 CICP22 ENSG00000228554 RALA LOC105375240 YAE1D1 MPLKIP RNU6-719P
GH07I039591 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +541.7 541735 1.9 AFF1 JUN MITF FOSL1 NFIC JUND ZNF26 PRDM10 FOS ATF7 CDK13 MPLKIP LINC00265 RALA GC07P039582 GC07P039609 YAE1D1
GH07I039719 Enhancer 1 Ensembl ENCODE 11.2 +413.8 413802 2.6 PKNOX1 CLOCK TAF9B NFIB ARNT ZBTB40 POLR2B ZNF766 EGR1 ZSCAN5C LINC00265 CDK13 MPLKIP RALA LOC105375240 YAE1D1 ENSG00000228554
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPLKIP on UCSC Golden Path with GeneCards custom track

Genomic Locations for MPLKIP Gene

Genomic Locations for MPLKIP Gene
chr7:40,126,023-40,134,659
(GRCh38/hg38)
Size:
8,637 bases
Orientation:
Minus strand
chr7:40,165,622-40,174,258
(GRCh37/hg19)

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

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:

No data available for DME Specific Peptides for MPLKIP Gene

Domains & Families for MPLKIP Gene

Gene Families for MPLKIP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for MPLKIP Gene

Gene Ontology (GO) - Molecular Function for MPLKIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17310276
genes like me logo Genes that share ontologies with MPLKIP: view
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 Model Products

CRISPR Products

miRNA for MPLKIP Gene

miRTarBase miRNAs that target MPLKIP

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPLKIP gene
Compartment Confidence
cytoskeleton 5
nucleus 5
golgi apparatus 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPLKIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 17310276
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 17310276
GO:0005794 Golgi apparatus IDA --
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

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:0007049 cell cycle IEA --
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MPLKIP Gene



Protein tissue co-expression partners for MPLKIP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MPLKIP Gene:

MPLKIP

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPLKIP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with MPLKIP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from 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
chimpanzee
(Pan troglodytes)
Mammalia MPLKIP 33 34
  • 99.81 (n)
rat
(Rattus norvegicus)
Mammalia Mplkip 33
  • 94.65 (n)
dog
(Canis familiaris)
Mammalia MPLKIP 33
  • 94.6 (n)
mouse
(Mus musculus)
Mammalia Mplkip 33 16 34
  • 94.16 (n)
Gm7102 34
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C4H7ORF11 34
  • 94 (a)
OneToOne
MPLKIP 33
  • 93.85 (n)
oppossum
(Monodelphis domestica)
Mammalia MPLKIP 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7ORF11 33
  • 71.72 (n)
MPLKIP 34
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPLKIP 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mplkip 33
  • 65.4 (n)
MGC76001 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29095 33
zebrafish
(Danio rerio)
Actinopterygii mplkip 34
  • 41 (a)
OneToOne
Species where no ortholog for MPLKIP was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs137853117 pathogenic, Trichothiodystrophy, nonphotosensitive 1, Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050] 40,133,169(-) T/C coding_sequence_variant, missense_variant
rs565833937 A breast cancer sample 40,134,482(-) C/T coding_sequence_variant, missense_variant
rs587776531 pathogenic, Trichothiodystrophy, nonphotosensitive 1 40,134,430(-) CCC/C coding_sequence_variant, frameshift
rs587776532 pathogenic, Trichothiodystrophy, nonphotosensitive 1 40,134,291(-) A/ coding_sequence_variant, frameshift
rs768342562 pathogenic, Trichothiodystrophy 1, photosensitive 40,133,094(-) TTT/TTTT coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for MPLKIP Gene

Variant ID Type Subtype PubMed ID
esv2759525 CNV gain 17122850
esv34547 CNV gain 17911159
esv3612920 CNV gain 21293372
nsv1024735 CNV gain 25217958
nsv1032278 CNV gain 25217958
nsv464437 CNV gain 19166990
nsv606709 CNV gain 21841781
nsv824080 CNV gain 20364138
nsv971193 CNV duplication 23825009

Variation tolerance for MPLKIP Gene

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

Additional Variant Information for MPLKIP Gene

Human Gene Mutation Database (HGMD)
MPLKIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPLKIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPLKIP Gene

Disorders for MPLKIP Gene

MalaCards: The human disease database

(4) MalaCards diseases for MPLKIP Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. (PMID: 15645389) Nakabayashi K … Scherer SW (American journal of human genetics 2005) 3 4 22 58
  2. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. (PMID: 11829489) Nakabayashi K … Scherer SW (Genomics 2002) 2 3 4 58
  3. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (PMID: 16977596) Botta E … Stefanini M (Human mutation 2007) 3 22 58
  4. TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity. (PMID: 17310276) Zhang Y … Shu HB (Cellular and molecular life sciences : CMLS 2007) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for MPLKIP Gene

Sources for MPLKIP Gene

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