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

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; AllianceGenome:HGNC:9690
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; ECRAR; 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: mouse all
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Genomic context

Location:: 5q33.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (160421855..160428744)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (160950365..160957262)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (159848862..159855751)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and validation of tryptophan-related gene signatures to predict prognosis and immunotherapy response in lung adenocarcinoma reveals a critical role for PTTG1.
Title: Identification and validation of tryptophan-related gene signatures to predict prognosis and immunotherapy response in lung adenocarcinoma reveals a critical role for PTTG1.
Multi-Omics Analysis of the Oncogenic Value of Pituitary Tumor-Transforming Gene 1 (PTTG1) in Human Cancers.
Title: Multi-Omics Analysis of the Oncogenic Value of Pituitary Tumor-Transforming Gene 1 (PTTG1) in Human Cancers.
Pituitary tumor transforming gene 1 promotes proliferation and malignant phenotype in osteosarcoma via NF-kappaB signaling.
Title: Pituitary tumor transforming gene 1 promotes proliferation and malignant phenotype in osteosarcoma via NF-κB signaling.
SPTBN1 Mediates the Cytoplasmic Constraint of PTTG1, Impairing Its Oncogenic Activity in Human Seminoma.
Title: SPTBN1 Mediates the Cytoplasmic Constraint of PTTG1, Impairing Its Oncogenic Activity in Human Seminoma.
Phosphorylated PTTG1 switches its subcellular distribution and promotes beta-catenin stabilization and subsequent transcription activity.
Title: Phosphorylated PTTG1 switches its subcellular distribution and promotes β-catenin stabilization and subsequent transcription activity.
miR374c5p regulates PTTG1 and inhibits cell growth and metastasis in hepatocellular carcinoma by regulating epithelialmesenchymal transition.
Title: miR‑374c‑5p regulates PTTG1 and inhibits cell growth and metastasis in hepatocellular carcinoma by regulating epithelial‑mesenchymal transition.
Clinical significance and potential regulatory mechanism of overexpression of pituitary tumor-transforming gene transcription factor in bladder cancer.
Title: Clinical significance and potential regulatory mechanism of overexpression of pituitary tumor-transforming gene transcription factor in bladder cancer.
SIRT1 suppresses pituitary tumor progression by downregulating PTTG1 expression.
Title: SIRT1 suppresses pituitary tumor progression by downregulating PTTG1 expression.
The pituitary tumour-transforming gene 1/delta-like homologue 1 pathway plays a key role in liver fibrogenesis.
Title: The pituitary tumour-transforming gene 1/delta-like homologue 1 pathway plays a key role in liver fibrogenesis.
miR-362-3p suppresses sinonasal squamous cell carcinoma progression via directly targeting pituitary tumor-transforming gene 1.
Title: miR-362-3p suppresses sinonasal squamous cell carcinoma progression via directly targeting pituitary tumor-transforming gene 1.

Submit: New GeneRIF Correction See all GeneRIFs (209)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489013

RH35896 (e-PCR)
- UniSTS:8290

NoName (e-PCR)
- UniSTS:481730

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 molecular function activator activity	EXP Inferred from Experiment 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
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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: securin

Names: ESP1-associated protein 1; endogenous cardiac regeneration-associated regulator; pituitary tumor-transforming 1; pituitary tumor-transforming gene 1 protein; tumor-transforming protein 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001282382.1 → NP_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

Q2VPE7, Q6IAL9

Related

ENSP00000377536.1, ENST00000393964.1

Conserved Domains (1) summary

pfam04856
Location:1 → 191

Securin; Securin sister-chromatid separation inhibitor
NM_001282383.1 → NP_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

Q2VPE7, Q6IAL9

Related

ENSP00000430642.1, ENST00000520452.5

Conserved Domains (1) summary

pfam04856
Location:1 → 191

Securin; Securin sister-chromatid separation inhibitor
NM_004219.4 → NP_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

Q2VPE7, Q6IAL9

Related

ENSP00000344936.5, ENST00000352433.10

Conserved Domains (1) summary

pfam04856
Location:1 → 191

Securin; Securin sister-chromatid separation inhibitor