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PINX1 Gene

protein-coding   GIFtS: 56
GCID: GC08M010659

PIN2/TERF1 Interacting, Telomerase Inhibitor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PIN2/TERF1 Interacting, Telomerase Inhibitor 11 2     LPTS2 3
Liver-Related Putative Tumor Suppressor1 2 3     TRF1-Interacting Protein 12 3
PIN2 Interacting Protein 11 2     67-11-3 Protein2
Pin2-Interacting Protein X12 3     Hepatocellular Carcinoma-Related Putative Tumor Suppressor2
Protein 67-11-32 3     PIN2-Interacting Protein 12
LPTL2 3     PIN2/TERF1-Interacting Telomerase Inhibitor 12

External Ids:    HGNC: 300461   Entrez Gene: 549842   Ensembl: ENSG000002540937   OMIM: 6065055   UniProtKB: Q96BK53   

Export aliases for PINX1 gene to outside databases

Previous GC identifers: GC08M010685 GC08M010493 GC08M009553


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PINX1 Gene:
PINX1 (PIN2/TERF1 interacting, telomerase inhibitor 1) is a protein-coding gene. Diseases associated with PINX1 include telangiectasis, and lymphedema. GO annotations related to this gene include telomeric RNA binding and telomerase inhibitor activity.

UniProtKB/Swiss-Prot: PINX1_HUMAN, Q96BK5
Function: Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT
accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell
proliferation and act as tumor suppressor

Gene Wiki entry for PINX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_077531.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the PINX1 gene promoter:
         NF-1   AML1a   SREBP-1c   CUTL1   AP-4   Nkx2-5   FOXL1   RORalpha1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPINX1 promoter sequence
   Search Chromatin IP Primers for PINX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PINX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23

PINX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PINX1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M010659:  view genomic region     (about GC identifiers)

Start:
10,622,473 bp from pter      End:
10,697,394 bp from pter
Size:
74,922 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PINX1_HUMAN, Q96BK5 (See protein sequence)
Recommended Name: PIN2/TERF1-interacting telomerase inhibitor 1  
Size: 328 amino acids; 37035 Da
Subunit: Interacts with MCRS1, TERT, TERF1, NCL/nucleolin, and the telomerase RNA
Secondary accessions: B2R9B1 Q548A5 Q6QWG9 Q7Z7J8 Q96QD7 Q9HBU7 Q9NWW2
Alternative splicing: 2 isoforms:  Q96BK5-1   Q96BK5-2   

Explore the universe of human proteins at neXtProt for PINX1: NX_Q96BK5

Explore proteomics data for PINX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PINX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001271285.1  NP_060354.4  

    ENSEMBL proteins: 
     ENSP00000318966   ENSP00000428853   ENSP00000428728   ENSP00000428242   ENSP00000429346  
     ENSP00000411396  

    PINX1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PINX1
    OriGene MassSpec for PINX1
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    Novus Biologicals PINX1 Proteins
    Novus Biologicals PINX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PINX1
    Cloud-Clone Corp. Proteins for PINX1

    PINX1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PINX1
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    Novus Biologicals PINX1 Antibodies
    Abcam antibodies for PINX1 (Q6QWG9, Q548A5)
    Cloud-Clone Corp. Antibodies for PINX1
    ThermoFisher Antibody for PINX1
    LSBio Antibodies in human, mouse, rat for PINX1

    PINX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PINX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PINX1
    Cloud-Clone Corp. CLIAs for PINX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GPATCH: G patch domain containing

    1 InterPro protein domain:
     IPR000467 G_patch_dom

    Graphical View of Domain Structure for InterPro Entry Q96BK5

    ProtoNet protein and cluster: Q96BK5

    1 Blocks protein domain: IPB000467 D111/G-patch domain

    UniProtKB/Swiss-Prot: PINX1_HUMAN, Q96BK5
    Domain: The TID (telomerase inhibiting domain) domain is sufficient to bind TERT and inhibit its activity
    Domain: The TBM domain mediates interaction with TERF1
    Similarity: Belongs to the PINX1 family
    Similarity: Contains 1 G-patch domain


    PINX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PINX1_HUMAN, Q96BK5
    Function: Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT
    accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell
    proliferation and act as tumor suppressor

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0005515protein binding IPI15381700
    GO:0010521telomerase inhibitor activity TAS15381700
    GO:0070034telomeric RNA binding IDA15381700
         
    PINX1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pinx1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     integument  mortality/aging  tumorigenesis 

    PINX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pinx1tm1.1Kplu for PINX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PINX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PINX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PINX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PINX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PINX1:
    hsa-mir-331-3p (MIRT043552)

    Block miRNA regulation of human, mouse, rat PINX1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PINX1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PINX1

    Gene Editing
    Products:
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PINX1 (NM_017884)
    Sino Biological Human cDNA Clone for PINX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PINX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINX1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PINX1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PINX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PINX1_HUMAN, Q96BK5: Nucleus. Nucleus, nucleolus. Chromosome, telomere. Chromosome, centromere, kinetochore.
    Note=Localizes in nucleoli, at telomere speckles and to the outer plate of kinetochores. Localization to the
    kinetochore is mediated by its central region and depends on NDC80 and CENPE
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    mitochondrion4
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome IDA19393617
    GO:0000776kinetochore IDA19393617
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0000781chromosome, telomeric region IEA--
    GO:0005634nucleus ----

    PINX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PINX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Telomerase
    Regulation of Telomerase


    1 BioSystems Pathway for PINX1
        Regulation of Telomerase



        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINX1: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PINX1

    Selected Interacting proteins for PINX1 (Q96BK51, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1P542742, 3MINT-16745 MINT-16744 MINT-16746 MINT-16743 I2D: score=4 
    CALM1P621581, 3EBI-721782,EBI-397435 I2D: score=2 
    CALM2P621581, 3EBI-721782,EBI-397435 I2D: score=2 
    CALM3P621581, 3EBI-721782,EBI-397435 I2D: score=2 
    PAFAH1B2P684022, 3MINT-64006 I2D: score=4 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007004telomere maintenance via telomerase IEA--
    GO:0007080mitotic metaphase plate congression IMP19393617
    GO:0008285negative regulation of cell proliferation NAS11003615
    GO:0051972regulation of telomerase activity TAS15381700
    GO:0051974negative regulation of telomerase activity TAS15381700

    PINX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PINX1

    1 Novoseek inferred chemical compound relationship for PINX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 89.5 2 12768206 (1), 15181449 (1)



    PINX1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PINX1 gene (2 alternative transcripts): 
    NM_001284356.1  NM_017884.5  

    Unigene Clusters for PINX1:

    PIN2/TERF1 interacting, telomerase inhibitor 1
    Hs.490991  [show with all ESTs], Hs.583894  [show with all ESTs]
    Unigene Representative Sequences: AK296724, BC043573
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000314787(uc003wth.2) ENST00000519088(uc003wti.2) ENST00000524114
    ENST00000523559 ENST00000524061 ENST00000517607 ENST00000520018 ENST00000524026
    ENST00000426190
    miRNA
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    GenScript: all cDNA clones in your preferred vector: PINX1 (NM_017884)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PINX1
      QuantiTect SYBR Green Assays in human, mouse, rat PINX1
      QuantiFast Probe-based Assays in human, mouse, rat PINX1

    Additional mRNA sequence: BC043573.1 

    8 DOTS entries:

    DT.443936  DT.97821639  DT.100784494  DT.100784497  DT.95246162  DT.121476717  DT.95158300  DT.40111265 

    Selected AceView cDNA sequences (see all 110):

    CR601705 AY523566 AY238941 BG024436 BX369048 AA937923 BM810103 AW450745 
    AI332832 F33362 AI243133 Z41493 CR591056 AW081873 CB305466 CR620063 
    CB150183 AW451412 AL525825 AW664840 BE466920 AI650759 BM670522 AL520524 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PINX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTGCCGAG
    PINX1 Expression
    About this image

    PINX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PINX1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.490991 Hs.583894

    UniProtKB/Swiss-Prot: PINX1_HUMAN, Q96BK5
    Tissue specificity: Ubiquitous; expressed at low levels. Not detectable in a number of hepatocarcinoma cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINX1: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PINX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PINX1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pinx11 , 5 PIN2/TERF1 interacting, telomerase inhibitor 11, 5 76.55(n)1
    73.5(a)1
      14 (33.34 cM)5
    724001  NM_028228.31  NP_082504.11 
     638603125 
    lizard
    (Anolis carolinensis)
    Reptilia PINX16
    PIN2/TERF1 interacting, telomerase inhibitor 1
    47(a)
    1 ↔ 1
    GL343553.1(395947-453018)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81972 Xenopus laevis transcribed sequence with weak similarity more 74.51(n)    BM191480.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pinx12 Danio rerio cDNA clone IMAGE5410996, partial cds 75.88(n)    BC054670.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111806
    --
    15(a)
    1 ↔ 1
    2R(16508419-16510808)
    worm
    (Caenorhabditis elegans)
    Secernentea T23G7.36
    Protein T23G7.3 (T23G7.3) mRNA, complete cds
    29(a)
    1 ↔ 1
    II(9165929-9167830) WBGene00011966
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PXR1(YGR280C)4 Essential protein involved in rRNA and snoRNA maturation; more   --   7(1051725-1050910) 853197  NP_011796.1 


    ENSEMBL Gene Tree for PINX1 (if available)
    TreeFam Gene Tree for PINX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PINX1 gene
    2 SIMAP similar genes for PINX1 using alignment to 5 protein entries:     PINX1_HUMAN (see all proteins):
    SOX7    GPATCH4

    PINX1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PINX1
    PGOHUM00000243328


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PINX1 (see all 2304)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs171523151,2
    C,F,H--10622554(+) CAAACG/AGAGAT 1 -- ds50019Minor allele frequency- A:0.03NA NS WA 1208
    rs341433651,2
    C--10622563(+) TAGTG-/ACACACA 1 -- ds50010--------
    rs58893431,2
    C--10622564(+) ACACA-/AC/CA 
            
    GATGC
    1 -- ds50010--------
    rs1878051081,2
    C--10622744(+) AATGTA/CACTTG 1 -- ds50010--------
    rs1390072011,2
    C--10622806(+) GATGCA/GCCCAG 1 -- ds50010--------
    rs127501,2
    C,F,O,A,H--10622812(-) GAGCGC/TCTGGG 1 -- ds500117Minor allele frequency- T:0.16MN NS EA NA CSA WA 2416
    rs1910484771,2
    --10622829(+) GAACTC/GTGCTG 1 -- ds50010--------
    rs725491161,2
    C,F--10622897(-) CAGCCG/AGGGCC 1 -- ut317Minor allele frequency- A:0.04MN WA 516
    rs2016601831,2
    --10622924(+) AATCT-/TTCTTCTT 1 -- cds10--------
    rs617465951,2
    C,F--10622930(+) TCTTCT/CTCTTC 2 /K /R mis17Minor allele frequency- C:0.01NS MN EU 1047

    HapMap Linkage Disequilibrium report for PINX1 (10622473 - 10697394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PINX1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2736594CNV Deletion23290073
    esv992953CNV Deletion20482838
    esv2736598CNV Deletion23290073
    esv2736597CNV Deletion23290073
    esv2736595CNV Deletion23290073
    esv2391351CNV Deletion18987734
    esv2736593CNV Deletion23290073
    esv271941CNV Insertion20981092
    nsv508497CNV Loss20534489
    nsv831232CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PINX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PINX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606505    OMIM disorders: --

    12 diseases for PINX1:    
    About MalaCards
    telangiectasis    lymphedema    hepatocellular carcinoma    acute promyelocytic leukemia
    nasopharyngitis    intrahepatic cholangiocarcinoma    cholangiocarcinoma    atherosclerosis
    squamous cell carcinoma    leukemia    breast cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for PINX1:
    Telangiectasis

    PINX1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for PINX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 23.8 9 19117989 (5), 15637589 (1), 11701125 (1), 15181449 (1)
    hepatocellular carcinoma 21.8 3 15375513 (2), 12508358 (1)
    tumors 12.1 7 15637589 (2), 12508358 (2), 15375513 (1), 11701125 (1)

    Genetic Association Database (GAD): PINX1
    Human Genome Epidemiology (HuGE) Navigator: PINX1 (2 documents)

    Export disorders for PINX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PINX1 gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with PINX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Pin2/TRF1-interacting protein PinX1 is a potent telomerase inhibitor. (PubMed id 11701125)1, 2, 3, 9 Zhou X.Z. and Lu K.P. (Cell 2001)
    2. Identification of the gene for a novel liver-related putative tumor suppressor at a high-frequency loss of heterozygosity region of chromosome 8p23 in human hepatocellular carcinoma. (PubMed id 11003615)1, 2, 3 Liao C.... Li T.P. (Hepatology 2000)
    3. Silencing PinX1 compromises telomere length maintenance as well as tumorigenicity in telomerase-positive human cancer cells. (PubMed id 19117989)1, 2, 9 Zhang B.... Huang J.J. (Cancer Res. 2009)
    4. Characterization of interactions between PinX1 and human telomerase subunits hTERT and hTR. (PubMed id 15381700)1, 2, 9 Banik S.S.R. and Counter C.M. (J. Biol. Chem. 2004)
    5. Human PinX1 mediates TRF1 accumulation in nucleolus and enhances TRF1 binding to telomeres. (PubMed id 19265708)1, 2, 9 Yoo J.E.... Park Y.N. (J. Mol. Biol. 2009)
    6. Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. (PubMed id 21909108)1, 4 Bis J.C....O'Donnell C.J. (Nat. Genet. 2011)
    7. Multiple genetic variants in telomere pathway genes and breast cancer risk. (PubMed id 20056641)1, 4 Shen J....Santella R.M. (amp 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    10. PinX1 is recruited to the mitotic chromosome periphery by nucleolin and facilitates chromosome congression. (PubMed id 19393617)1, 2 Li N.... Yao X. (Biochem. Biophys. Res. Commun. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54984 HGNC: 30046 AceView: PINX1 Ensembl:ENSG00000254093 euGenes: HUgn54984
    ECgene: PINX1 H-InvDB: PINX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PINX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PINX1 gene:
    Search GeneIP for patents involving PINX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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