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

    Gene ID: 54984, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 5.1), appendix (RPKM 4.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PINX1 in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene chromosome 8 open reading frame 74 Neighboring gene RNA, 5S ribosomal pseudogene 252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10567701-10568468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10568469-10569236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18914 Neighboring gene uncharacterized LOC102723313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10589078-10589902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10591664-10592306 Neighboring gene CRE3 CAGE-defined tissue-specific enhancer Neighboring gene SRY-box transcription factor 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:10616720-10616853 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:10632670-10632869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10647506-10648006 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:10697101-10697601 Neighboring gene microRNA 1322 Neighboring gene uncharacterized LOC101929248 Neighboring gene PINX1 divergent transcript 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

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    EBI GWAS Catalog
    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

    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

    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 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

    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)

    NEW Try the new Transcript table

    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
      B2R9B1, Q548A5, Q6QWG9, Q7Z7J8, Q96BK5, Q96QD7, Q9HBU7, Q9NWW2
      UniProtKB/TrEMBL
      E5RGR1
      Related
      ENSP00000318966.3, ENST00000314787.8
      Conserved Domains (1) summary
      smart00443
      Location:2469
      G_patch; glycine rich nucleic binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      8899172..8974128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)