Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 9232, updated on 6-Sep-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTTG1 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (160421855..160428744)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159848862..159855751)

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
    GeneReviews: Not available
    Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
    GeneReviews: Not available

    Pathways from PubChem

    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
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homologous chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mitotic sister chromatid separation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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 Updated Annotation Release 109.20210514

    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
    Support Center