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

Gene ID: 54984, updated on 6-Sep-2021

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
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
Expression
Ubiquitous expression in lymph node (RPKM 5.1), appendix (RPKM 4.5) and 25 other tissues See more
Orthologs
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Genomic context

See PINX1 in Genome Data Viewer
Location:
8p23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (10764961..10839875, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (10622471..10697385, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723313 Neighboring gene CRE3 CAGE-defined tissue-specific enhancer Neighboring gene SRY-box transcription factor 7 Neighboring gene microRNA 1322 Neighboring gene PINX1 divergent transcript Neighboring gene uncharacterized LOC101929248 Neighboring gene uncharacterized LOC112268022

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
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
GeneReviews: Not available
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8850, FLJ20565, FLJ58508

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 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 plate congression 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 telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of telomerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of telomerase activity NAS
Non-traceable Author Statement
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 
involved_in regulation of telomerase activity TAS
Traceable Author Statement
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 
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

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)

  1. NM_001284356.2NP_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:2469
    G_patch; glycine rich nucleic binding domain
  2. NM_017884.6NP_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
    Q96BK5
    Related
    ENSP00000318966.3, ENST00000314787.8
    Conserved Domains (1) summary
    smart00443
    Location:2469
    G_patch; glycine rich nucleic binding domain

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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    10764961..10839875 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    2507388..2582240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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