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MPLKIP Gene

protein-coding   GIFtS: 43
GCID: GC07M040172

M-Phase Specific PLK1 Interacting Protein

(Previous name: chromosome 7 open reading frame 11)
(Previous symbol: C7orf11)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
M-Phase Specific PLK1 Interacting Protein1 2     Non-Photosensitive 11
C7orf111 2 3 5     tricothiodystrophy1
TTD Non-Photosensitive 1 Protein2 3     ORF202
ABHS2 5     M-Phase-Specific PLK1-Interacting Protein2
TTDN13 5     Russell-Silver Syndrome Region2
Chromosome 7 Open Reading Frame 111     

External Ids:    HGNC: 160021   Entrez Gene: 1366472   Ensembl: ENSG000001683037   OMIM: 6091885   UniProtKB: Q8TAP93   

Export aliases for MPLKIP gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 nonphotosensitive trichothiodystrophy, and trichothiodystrophy, nonphotosensitive 1.

UniProtKB/Swiss-Prot: MPLKI_HUMAN, Q8TAP9
Function: May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis

Gene Wiki entry for MPLKIP (C7orf11) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MPLKIP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPLKIP promoter sequence
   Search Chromatin IP Primers for MPLKIP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPLKIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p14.1   Ensembl cytogenetic band:  7p14.1   HGNC cytogenetic band: 7p14

MPLKIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPLKIP gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M040172:  view genomic region     (about GC identifiers)

Start:
40,165,622 bp from pter      End:
40,174,258 bp from pter
Size:
8,637 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 40,210,771-40,212,680     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MPLKI_HUMAN, Q8TAP9 (See protein sequence)
Recommended Name: M-phase-specific PLK1-interacting protein  
Size: 179 amino acids; 19147 Da
Subunit: Interacts with PLK1; phosphorylation-dependent

Explore the universe of human proteins at neXtProt for MPLKIP: NX_Q8TAP9

Explore proteomics data for MPLKIP at MOPED

Post-translational modifications: 

  • Phosphorylated during mitosis in the cell cycle probably by CDK11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MPLKIP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_619646.1  
    ENSEMBL proteins: 
     ENSP00000304553  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026618 MPLKIP
     IPR028265 MPLKIP-like

    Graphical View of Domain Structure for InterPro Entry Q8TAP9

    ProtoNet protein and cluster: Q8TAP9


    MPLKIP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MPLKI_HUMAN, Q8TAP9
    Function: May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17310276
         
    MPLKIP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MPLKIP:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    miRNA
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    hsa-mir-331-3p (MIRT043354)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPLKI_HUMAN, Q8TAP9: 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

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17310276
    GO:0005737cytoplasm IDA17310276
    GO:0005813centrosome IDA17310276
    GO:0030496midbody IDA17310276

    MPLKIP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPLKIP
    Interactions:

        Search GeneGlobe Interaction Network for MPLKIP

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007067mitosis IEA--

    MPLKIP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MPLKIP (MPLKI)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MPLKIP gene: 
    NM_138701.3  

    Unigene Cluster for MPLKIP:

    M-phase specific PLK1 interacting protein
    Hs.654989  [show with all ESTs]
    Unigene Representative Sequence: BQ898832
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000306984(uc003thl.4)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MPLKIP
      QuantiFast Probe-based Assays in human, mouse, rat MPLKIP

    Additional mRNA sequence: 

    AK290098.1 BC026265.1 

    5 DOTS entries:

    DT.445061  DT.100817216  DT.101983107  DT.95372919  DT.452086 

    Selected AceView cDNA sequences (see all 133):

    BX281428 AW440375 AI583177 AW630101 CR617993 AW955632 CF593269 AI867079 
    NM_138701 BM981845 CD677504 AA668651 AW166798 AI672601 BM772411 CB995348 
    CA309231 BU074269 CF529081 CA310385 AI565205 BM977843 AA587686 BP378330 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MPLKIP    About this scheme

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


    ECgene alternative splicing isoforms for MPLKIP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MPLKIP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCAGGAAC
    MPLKIP Expression
    About this image

    MPLKIP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPLKIP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654989

    UniProtKB/Swiss-Prot: MPLKI_HUMAN, Q8TAP9
    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

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MPLKIP gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mplkip1 , 5 RIKEN cDNA 2810021B07 gene5
    M-phase specific PLK1 intereacting protein1
    94.16(n)1
    91.97(a)1
      13 (6.05 cM)5
    663081  NM_025479.51  NP_079755.11 
     176954135 
    chicken
    (Gallus gallus)
    Aves C7ORF111 chromosome 2 open reading frame, human C7orf11 71.72(n)
    71.21(a)
      776599  XM_001236112.3  XP_001236113.3 
    lizard
    (Anolis carolinensis)
    Reptilia MPLKIP6
    M-phase specific PLK1 interacting protein
    54(a)
    1 ↔ 1
    6(48917705-48921968)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.290952 Xenopus laevis transcribed sequence with weak similarity more 79.21(n)    BJ030862.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC062385.12   -- 80(n)    BC062385.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPLKIP gene
    1 SIMAP similar gene for MPLKIP using alignment to 1 protein entry:     MPLKI_HUMAN:
    C7orf11

    MPLKIP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MPLKIP (see all 13)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362734
    A breast cancer sample4--see VAR_0362732 G E mis40--------
    VAR_0229404
    Trichothiodystrophy non-photosensitive 1 (TTDN1)4--see VAR_0229402 M V mis40--------
    rs1378531171,2
    Cpathogenic140148281(-) CTTCAA/GTGCTT 2 M V mis10--------
    rs1859372251,2
    --40171842(+) TTAATC/TGGTTC 1 -- ds50010--------
    rs1403319011,2
    C--40171934(+) GGAAGC/TGATTT 1 -- ds50010--------
    rs1437231121,2
    --40171991(+) CATAAC/TGCTAA 1 -- ds50010--------
    rs1468075821,2
    --40172169(+) TGTTAC/TTCTCA 1 -- ds50010--------
    rs1906601751,2
    --40172176(+) CTCATA/CCTCAT 1 -- ds50010--------
    rs119748501,2
    C,F,H--40172432(+) GGAAAC/TGGTAA 1 -- ut3111Minor allele frequency- T:0.05NS EA NA WA 1304
    rs1489327841,2
    C--40172443(+) ATCTCC/TAAAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MPLKIP (40165622 - 40174258 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MPLKIP: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MPLKIP
    DNA2.0 Custom Variant and Variant Library Synthesis for MPLKIP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609188   
    OMIM disorders: 234050  
    UniProtKB/Swiss-Prot: MPLKI_HUMAN, Q8TAP9
  • Trichothiodystrophy non-photosensitive 1 (TTDN1) [MIM:234050]: TTDN1 is an autosomal recessive disease
    characterized by sulfur-deficient brittle hair, intellectual impairment, decreased male fertility and no
    cutaneous photosensitivity. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for MPLKIP:    
    About MalaCards
    nonphotosensitive trichothiodystrophy    trichothiodystrophy, nonphotosensitive 1    photosensitive trichothiodystrophy    breast and colorectal cancer
    short stature    multiple myeloma    myeloma    colorectal cancer


    MPLKIP for disorders           About GeneDecksing


    Export disorders for MPLKIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MPLKIP gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with MPLKIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. (PubMed id 11829489)1, 2, 3 Nakabayashi K.... Scherer S.W. (Genomics 2002)
    2. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. (PubMed id 15645389)1, 2, 9 Nakabayashi K....Scherer S.W. (Am. J. Hum. Genet. 2005)
    3. TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity. (PubMed id 17310276)1, 2 Zhang Y.... Shu H.-B. (Cell. Mol. Life Sci. 2007)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (PubMed id 16977596)1, 9 Botta E....Stefanini M. (Hum. Mutat. 2007)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (Mol. Cell 2008)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 136647 HGNC: 16002 AceView: C7orf11 Ensembl:ENSG00000168303 euGenes: HUgn136647
    ECgene: MPLKIP H-InvDB: MPLKIP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MPLKIP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPLKIP gene:
    Search GeneIP for patents involving MPLKIP

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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