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 trichothiodyst... See more...

Aliases for MPLKIP Gene

Aliases for MPLKIP Gene

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

External Ids for MPLKIP Gene

Previous HGNC Symbols for MPLKIP Gene

  • C7orf11

Previous GeneCards Identifiers for MPLKIP Gene

  • GC07M040172

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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPLKIP Gene

Genomics for MPLKIP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MPLKIP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPLKIP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPLKIP

Genomic Locations for MPLKIP Gene

Genomic Locations for MPLKIP Gene
chr7:40,126,027-40,134,622
(GRCh38/hg38)
Size:
8,596 bases
Orientation:
Minus strand
chr7:40,165,622-40,174,258
(GRCh37/hg19)
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

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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76008 (A4D1W6_HUMAN)
  • TTD non-photosensitive 1 protein (TTDN1_HUMAN)
genes like me logo Genes that share domains with MPLKIP: view

No data available for Graphical View of Domain Structure 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.

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 Models for MPLKIP Gene

MGI Knock Outs for MPLKIP:
  • Mplkip Mplkip<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for MPLKIP Gene

miRTarBase miRNAs that target MPLKIP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPLKIP

No data available for Enzyme Numbers (IUBMB) , 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 4
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 0

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 IEA,IDA 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

PathCards logo

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 :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPLKIP

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

Expression for MPLKIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MPLKIP Gene



Protein tissue co-expression partners for MPLKIP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for MPLKIP Gene

  • Skin(2.2)
  • Kidney(2.1)

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 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
Chimpanzee
(Pan troglodytes)
Mammalia MPLKIP 30 31
  • 99.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mplkip 30
  • 94.65 (n)
Dog
(Canis familiaris)
Mammalia MPLKIP 30
  • 94.6 (n)
Mouse
(Mus musculus)
Mammalia Mplkip 30 17 31
  • 94.16 (n)
OneToMany
Gm7102 31
  • 82 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia C4H7ORF11 31
  • 94 (a)
OneToOne
MPLKIP 30
  • 93.85 (n)
Oppossum
(Monodelphis domestica)
Mammalia MPLKIP 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C7ORF11 30
  • 71.72 (n)
MPLKIP 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MPLKIP 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mplkip 30
  • 65.4 (n)
MGC76001 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.29095 30
Zebrafish
(Danio rerio)
Actinopterygii mplkip 31
  • 41 (a)
OneToOne
Species where no ortholog for MPLKIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MPLKIP: view image

Paralogs for MPLKIP Gene

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

  • MPLKI_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPLKIP Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
718761 Likely Benign: not provided 40,133,176(-) C/T SYNONYMOUS_VARIANT
722260 Likely Benign: not provided 40,134,277(-) G/A SYNONYMOUS_VARIANT
734604 Likely Benign: not provided 40,134,216(-) CTAT/C SPLICE_DONOR_VARIANT
734605 Likely Benign: not provided 40,134,442(-) T/G SYNONYMOUS_VARIANT
740590 Likely Benign: not provided 40,134,448(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MPLKIP Gene

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

(9) MalaCards diseases for MPLKIP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichothiodystrophy 4, nonphotosensitive
  • ttd4
trichothiodystrophy 1, photosensitive
  • amish brittle hair brain syndrome
trichothiodystrophy
  • bids syndrome
nonphotosensitive trichothiodystrophy
  • amish brittle hair brain syndrome
ciliary dyskinesia, primary, 6
  • cild6
- 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.
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 23
  2. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. (PMID: 11829489) Nakabayashi K … Scherer SW (Genomics 2002) 2 3 4
  3. 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
  4. 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 23
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for MPLKIP Gene

Sources for MPLKIP Gene