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

Gene ID: 9232, updated on 1-Jun-2020

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
109.20200522 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 Functions

What'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 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
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 Updated Annotation Release 109.

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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