Basic Information

Symbol
PTTG1
RNA class
mRNA
Alias
PTTG1 Regulator Of Sister Chromatid Separation, Securin Securin HPTTG PTTG EAP1 Tumor-Transforming Protein 1 ECRAR TUTR1 Endogenous Cardiac Regeneration-Associated Regulator Pituitary Tumor-Transforming Gene 1 Protein Pituitary Tumor-Transforming 1 ESP1-Associated Protein 1 Esp1-Associated Protein
Location (GRCh38)
5:160421816-160428748
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004219.4
Sequence length
715.0 nt
GC content
0.4573

Transcripts

ID Sequence Length GC content
NM_001282382.1 NCBI
CGCGGGUGGUUAGUUGAGCCGGCUCCGGCGGGGAAGGAGGCGGGCUGCG… 1093 nt 0.4831
NM_001282383.1 NCBI
CGCGGGUGGUUAGUUGAGCCGGCUCCGGCGGGGAAGGAGGCGGGCUGCG… 947 nt 0.4921
NM_004219.4 NCBI
ACCGCGGCCUCAGAUGAAUGCGGCUGUUAAGACCUGCAAUAAUCCAGAA… 715 nt 0.4573
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] CIViC Summary for PTTG1 Gene

Forensic Context

A review of long noncoding RNAs in cardiovascular diseases noted that the PTTG1 modulates cardiomyocyte proliferation and promotes post-myocardial infarction rehabilitation without inducing hypertrophy in investigated species, including humans and mice, by activating the ERK1/2 pathway to upregulate cyclin D1, cyclin E1, and E2F1 [Chih-Fan Yeh et al. DOI:10.1186/s12929-020-00647-w].