PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PINX1provided by HGNC
Official Full Name: PIN2 (TERF1) interacting telomerase inhibitor 1provided by HGNC
Primary source: HGNC:HGNC:30046
See related: Ensembl:ENSG00000254093 MIM:606505; AllianceGenome:HGNC:30046
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Gno1; LPTL; LPTS; Pxr1
Summary: Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 5.1), appendix (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (10764961..10839875, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (8899172..8974128)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (10622471..10697385, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

PinX1-Promoted Autophagy Inhibits Cell Proliferation and Induces Cell Apoptosis by Inhibiting the NF-kappaB/p65 Signaling Pathway in Nasopharyngeal Carcinoma.
Title: PinX1-Promoted Autophagy Inhibits Cell Proliferation and Induces Cell Apoptosis by Inhibiting the NF-κB/p65 Signaling Pathway in Nasopharyngeal Carcinoma.
Association of the PINX1 Variant rs6984094, Which Lengthens Telomeres, with Systemic Lupus Erythematosus Susceptibility in Chinese Populations.
Title: Association of the PINX1 Variant rs6984094, Which Lengthens Telomeres, with Systemic Lupus Erythematosus Susceptibility in Chinese Populations.
Oncogenic role of PinX1 in prostate cancer cells through androgen receptor dependent and independent mechanisms.
Title: Oncogenic role of PinX1 in prostate cancer cells through androgen receptor dependent and independent mechanisms.
PinX1 represses renal cancer angiogenesis through mir-125a-3p/VEGF signal pathway. The miR-125a-3p may be a candidate clinical prognostic marker and a novel therapeutic target in RCC.
Title: PinX1 represses renal cancer angiogenesis via the mir-125a-3p/VEGF signaling pathway.
Epstein-Barr virus led to reduced PINX1 expression through LMP1-NF-kappaB-PINX1 axis, which up-regulated telomerase activity in nasopharyngeal carcinoma.
Title: Insufficient PINX1 expression stimulates telomerase activation by direct inhibition of EBV LMP1-NF-κB axis during nasopharyngeal carcinoma development.
PINX1 expression was associated with several clinicopathological factors and had a significant influence on recurrence in patients with papillary thyroid carcinoma.
Title: The clinical significance of PINX1 expression in papillary thyroid carcinoma.
This process would be an applicable way for obtaining recombinant hPinX1 using P. pastoris expression system. This is the first report on recombinant production of hPinX1 in P. pastoris
Title: Efficient expression of recombinant human telomerase inhibitor 1 (hPinX1) in Pichia pastoris.
PinX1 silencing in CD133+ CSCs significantly decreased TRF1, Mad1, and p53 mRNA levels, while it increased hTERT and c-Myc mRNA levels.
Title: The Pinx1 Gene Downregulates Telomerase and Inhibits Proliferation of CD133+ Cancer Stem Cells Isolated from a Nasopharyngeal Carcinoma Cell Line by Regulating Trfs and Mad1/C-Myc/p53 Pathways.
NF-kappaB p65 potentiated tumor growth via suppressing a novel target LPTS
Title: NF-κB potentiates tumor growth by suppressing a novel target LPTS.
Our findings suggested that PinX1 could be a potential tumour suppressor in non-small-cell lung cancer and that loss of PinX1 promoted non-small-cell lung cancer progression.
Title: PinX1 Is a Potential Prognostic Factor for Non-Small-Cell Lung Cancer and Inhibits Cell Proliferation and Migration.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of PIN2/TERF1 interacting, telomerase inhibitor 1 (PINX1) by siRNA enhances HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36675 (e-PCR)
- UniSTS:92956

S0006 (e-PCR), detects polymorphism
- UniSTS:252006

A004N12 (e-PCR)
- UniSTS:79520

D8S453 (e-PCR)
- UniSTS:54974

NoName (e-PCR)
- UniSTS:483314

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomerase RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomerase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables telomerase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables telomerase inhibitor activity	NAS Non-traceable Author Statement more info	PubMed
enables telomerase inhibitor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of G2/M transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via telomere lengthening	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of protein localization to nucleolus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to nucleolus	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in spindle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: PIN2/TERF1-interacting telomerase inhibitor 1

Names: 67-11-3 protein; PIN2-interacting protein 1; TRF1-interacting protein 1; hepatocellular carcinoma-related putative tumor suppressor; liver-related putative tumor suppressor; pin2-interacting protein X1; protein 67-11-3

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_001284356.2 → NP_001271285.1 PIN2/TERF1-interacting telomerase inhibitor 1 isoform 2

See identical proteins and their annotated locations for NP_001271285.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region which results in a frameshift compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC105001, AF205718

Consensus CDS

CCDS64825.1

UniProtKB/Swiss-Prot

Q96BK5

Related

ENSP00000428853.1, ENST00000519088.5

Conserved Domains (1) summary

smart00443
Location:24 → 69

G_patch; glycine rich nucleic binding domain
NM_017884.6 → NP_060354.4 PIN2/TERF1-interacting telomerase inhibitor 1 isoform 1

See identical proteins and their annotated locations for NP_060354.4

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein.

Source sequence(s)

AC105001, AF418553

Consensus CDS

CCDS47801.1

UniProtKB/Swiss-Prot

B2R9B1, Q548A5, Q6QWG9, Q7Z7J8, Q96BK5, Q96QD7, Q9HBU7, Q9NWW2

UniProtKB/TrEMBL

E5RGR1

Related

ENSP00000318966.3, ENST00000314787.8

Conserved Domains (1) summary

smart00443
Location:24 → 69

G_patch; glycine rich nucleic binding domain