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    PTTG1 PTTG1 regulator of sister chromatid separation, securin [ Homo sapiens (human) ]

    Gene ID: 9232, updated on 7-Jul-2019

    Summary

    Official Symbol
    PTTG1provided by HGNC
    Official Full Name
    PTTG1 regulator of sister chromatid separation, securinprovided by HGNC
    Primary source
    HGNC:HGNC:9690
    See related
    Ensembl:ENSG00000164611 MIM:604147
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EAP1; PTTG; HPTTG; TUTR1
    Summary
    The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
    Expression
    Biased expression in testis (RPKM 44.0), bone marrow (RPKM 29.1) and 12 other tissues See more
    Orthologs

    Genomic context

    See PTTG1 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (160421855..160428744)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159848865..159855747)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene zinc finger BED-type containing 8 Neighboring gene SLU7 homolog, splicing factor Neighboring gene MIR3142 host gene Neighboring gene Sharpr-MPRA regulatory region 10249 Neighboring gene microRNA 3142

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • APC/C-mediated degradation of cell cycle proteins, organism-specific biosystem (from REACTOME)
      APC/C-mediated degradation of cell cycle proteins, organism-specific biosystemThe Anaphase Promoting Complex or Cyclosome (APC/C) functions during mitosis to promote sister chromatid separation and mitotic exit through the degradation of mitotic cyclins and securin. This compl...
    • APC/C:Cdc20 mediated degradation of Securin, organism-specific biosystem (from REACTOME)
      APC/C:Cdc20 mediated degradation of Securin, organism-specific biosystemThe separation of sister chromatids in anaphase requires the destruction of the anaphase inhibitor, securin. Securin associates with and inactivates the protease, separase. Separase cleaves the cohe...
    • APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
      APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemFollowing phosphorylation of the APC/C core subunits by mitotic kinases, the activating protein, Cdc20 is recruited to the APC and promotes the multiubiquitination and subsequent degradation of the ...
    • APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1, organism-specific biosystem (from REACTOME)
      APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1, organism-specific biosystemFrom late mitosis through G1 phase APC/C:Cdh1 insures the continued degradation of the mitotic proteins and during mitotic exit and G1 its substrates include Cdc20, Plk1, Aurora A, Cdc6 and Gemin...
    • Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
      Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemAPC/C:Cdc20 is first activated at the prometaphase/metaphase transition through phosphorylation of core subunits of the APC/C by mitotic kinases as well as recruitment of the APC/C activator protein ...
    • Cell Cycle, organism-specific biosystem (from WikiPathways)
      Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
    • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
    • Oocyte meiosis, organism-specific biosystem (from KEGG)
      Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Oocyte meiosis, conserved biosystem (from KEGG)
      Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Regulation of mitotic cell cycle, organism-specific biosystem (from REACTOME)
      Regulation of mitotic cell cycle, organism-specific biosystem
      Regulation of mitotic cell cycle
    • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
      Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126883, MGC138276

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    cysteine-type endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    anaphase-promoting complex-dependent catabolic process TAS
    Traceable Author Statement
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    homologous chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mitotic sister chromatid separation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    securin
    Names
    ESP1-associated protein 1
    pituitary tumor-transforming 1
    pituitary tumor-transforming gene 1 protein
    tumor-transforming protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001282382.1NP_001269311.1  securin

      See identical proteins and their annotated locations for NP_001269311.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AF075242, BI827526, BM990391
      Consensus CDS
      CCDS4353.1
      UniProtKB/Swiss-Prot
      O95997
      UniProtKB/TrEMBL
      Q6IAL9
      Related
      ENSP00000377536.1, ENST00000393964.1
      Conserved Domains (1) summary
      pfam04856
      Location:1191
      Securin; Securin sister-chromatid separation inhibitor
    2. NM_001282383.1NP_001269312.1  securin

      See identical proteins and their annotated locations for NP_001269312.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AF075242, BI827526, BM990391, BU182149
      Consensus CDS
      CCDS4353.1
      UniProtKB/Swiss-Prot
      O95997
      UniProtKB/TrEMBL
      Q6IAL9
      Related
      ENSP00000430642.1, ENST00000520452.5
      Conserved Domains (1) summary
      pfam04856
      Location:1191
      Securin; Securin sister-chromatid separation inhibitor
    3. NM_004219.4NP_004210.1  securin

      See identical proteins and their annotated locations for NP_004210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AF075242, BM990391, HY006026
      Consensus CDS
      CCDS4353.1
      UniProtKB/Swiss-Prot
      O95997
      UniProtKB/TrEMBL
      Q6IAL9
      Related
      ENSP00000344936.5, ENST00000352433.10
      Conserved Domains (1) summary
      pfam04856
      Location:1191
      Securin; Securin sister-chromatid separation inhibitor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      160421855..160428744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446260.1XP_024302028.1  securin isoform X1

      Conserved Domains (1) summary
      pfam04856
      Location:47201
      Securin; Securin sister-chromatid separation inhibitor
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