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Aliases for PINX1 Gene

Aliases for PINX1 Gene

  • PIN2/TERF1 Interacting, Telomerase Inhibitor 1 2 3
  • Liver-Related Putative Tumor Suppressor 2 3 4
  • Pin2-Interacting Protein X1 3 4
  • PIN2 Interacting Protein 1 2 3
  • TRF1-Interacting Protein 1 3 4
  • Protein 67-11-3 3 4
  • LPTL 3 4
  • LPTS 3 4
  • Hepatocellular Carcinoma-Related Putative Tumor Suppressor 3
  • PIN2/TERF1-Interacting Telomerase Inhibitor 1 3
  • PIN2-Interacting Protein 1 3
  • 67-11-3 Protein 3

External Ids for PINX1 Gene

Previous GeneCards Identifiers for PINX1 Gene

  • GC08M010685
  • GC08M010493
  • GC08M010659
  • GC08M009553

Summaries for PINX1 Gene

GeneCards Summary for PINX1 Gene

PINX1 (PIN2/TERF1 Interacting, Telomerase Inhibitor 1) is a Protein Coding gene. Diseases associated with PINX1 include telangiectasis and hepatocellular carcinoma. Among its related pathways are Regulation of Telomerase. GO annotations related to this gene include telomerase inhibitor activity and telomeric RNA binding.

UniProtKB/Swiss-Prot for PINX1 Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PINX1 Gene

Genomics for PINX1 Gene

Regulatory Elements for PINX1 Gene

Genomic Location for PINX1 Gene

Start:
10,764,961 bp from pter
End:
10,839,899 bp from pter
Size:
74,939 bases
Orientation:
Minus strand

Genomic View for PINX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PINX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PINX1 Gene

Proteins for PINX1 Gene

  • Protein details for PINX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BK5-PINX1_HUMAN
    Recommended name:
    PIN2/TERF1-interacting telomerase inhibitor 1
    Protein Accession:
    Q96BK5
    Secondary Accessions:
    • B2R9B1
    • Q548A5
    • Q6QWG9
    • Q7Z7J8
    • Q96QD7
    • Q9HBU7
    • Q9NWW2

    Protein attributes for PINX1 Gene

    Size:
    328 amino acids
    Molecular mass:
    37035 Da
    Quaternary structure:
    • Interacts with MCRS1, TERT, TERF1, NCL/nucleolin, and the telomerase RNA.

    Alternative splice isoforms for PINX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PINX1 Gene

Proteomics data for PINX1 Gene at MOPED

Post-translational modifications for PINX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PINX1 Gene

No data available for DME Specific Peptides for PINX1 Gene

Domains for PINX1 Gene

Gene Families for PINX1 Gene

HGNC:
  • GPATCH :G patch domain containing

Protein Domains for PINX1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PINX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96BK5

UniProtKB/Swiss-Prot:

PINX1_HUMAN :
  • Q96BK5
Domain:
  • The TID (telomerase inhibiting domain) domain is sufficient to bind TERT and inhibit its activity.
  • The TBM domain mediates interaction with TERF1.
  • Contains 1 G-patch domain.
Family:
  • Belongs to the PINX1 family.
genes like me logo Genes that share domains with PINX1: view

Function for PINX1 Gene

Molecular function for PINX1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PINX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0005515 protein binding IPI 15381700
GO:0010521 telomerase inhibitor activity TAS 15381700
GO:0070034 telomeric RNA binding IDA 15381700
genes like me logo Genes that share ontologies with PINX1: view
genes like me logo Genes that share phenotypes with PINX1: view

Animal Models for PINX1 Gene

MGI Knock Outs for PINX1:

miRNA for PINX1 Gene

miRTarBase miRNAs that target PINX1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PINX1 Gene

Localization for PINX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PINX1 Gene

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
Jensen Localization Image for PINX1 Gene COMPARTMENTS Subcellular localization image for PINX1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
mitochondrion 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PINX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 19393617
GO:0000776 kinetochore IDA 19393617
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with PINX1: view

Pathways for PINX1 Gene

SuperPathways for PINX1 Gene

Superpath Contained pathways
1 Regulation of Telomerase
genes like me logo Genes that share pathways with PINX1: view

Pathways by source for PINX1 Gene

1 BioSystems pathway for PINX1 Gene

Gene Ontology (GO) - Biological Process for PINX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007004 telomere maintenance via telomerase IEA --
GO:0007080 mitotic metaphase plate congression IMP 19393617
GO:0008285 negative regulation of cell proliferation NAS 11003615
GO:0051972 regulation of telomerase activity TAS 15381700
GO:0051974 negative regulation of telomerase activity TAS 15381700
genes like me logo Genes that share ontologies with PINX1: view

Compounds for PINX1 Gene

(1) Novoseek inferred chemical compound relationships for PINX1 Gene

Compound -log(P) Hits PubMed IDs
tin(2+) 89.5 2
genes like me logo Genes that share compounds with PINX1: view

Transcripts for PINX1 Gene

Unigene Clusters for PINX1 Gene

PIN2/TERF1 interacting, telomerase inhibitor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PINX1 Gene

No ASD Table

Relevant External Links for PINX1 Gene

GeneLoc Exon Structure for
PINX1
ECgene alternative splicing isoforms for
PINX1

Expression for PINX1 Gene

mRNA expression in normal human tissues for PINX1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PINX1 Gene

SOURCE GeneReport for Unigene cluster for PINX1 Gene Hs.490991

mRNA Expression by UniProt/SwissProt for PINX1 Gene

Q96BK5-PINX1_HUMAN
Tissue specificity: Ubiquitous; expressed at low levels. Not detectable in a number of hepatocarcinoma cell lines
genes like me logo Genes that share expressions with PINX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PINX1 Gene

Orthologs for PINX1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PINX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PINX1 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FLJ20565 36
  • 74 (a)
OneToOne
PINX1 35
  • 80.92 (n)
  • 75 (a)
dog
(Canis familiaris)
Mammalia PINX1 35
  • 82.83 (n)
  • 80.73 (a)
PINX1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pinx1 35
  • 76.55 (n)
  • 73.5 (a)
Pinx1 16
Pinx1 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PINX1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PINX1 36
  • 39 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pinx1 35
  • 78.21 (n)
  • 74.48 (a)
lizard
(Anolis carolinensis)
Reptilia PINX1 36
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8197 35
zebrafish
(Danio rerio)
Actinopterygii pinx1 35
pinx1 36
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11180 36
  • 15 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T23G7.3 36
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXR1 36
  • 24 (a)
OneToOne
PXR1 38
Species with no ortholog for PINX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PINX1 Gene

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

Paralogs for PINX1 Gene

Selected SIMAP similar genes for PINX1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PINX1 Gene

genes like me logo Genes that share paralogs with PINX1: view

No data available for Paralogs for PINX1 Gene

Variants for PINX1 Gene

Sequence variations from dbSNP and Humsavar for PINX1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs714370 -- 10,808,337(-) CTACA(A/G)CACTT intron-variant
rs714371 -- 10,808,425(-) ATGTA(A/C)AAAAA intron-variant
rs752444 -- 10,792,490(+) GGACA(C/G)ACTGT intron-variant
rs752445 -- 10,792,760(+) ATTAA(C/T)TGCTG intron-variant
rs752446 -- 10,792,257(+) CGTCC(A/G)CACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PINX1 Gene

Variant ID Type Subtype PubMed ID
dgv447n21 CNV Gain 19592680
nsv831232 CNV Loss 17160897
esv2736593 CNV Deletion 23290073
nsv522226 CNV Loss 19592680
esv271941 CNV Insertion 20981092
esv2736594 CNV Deletion 23290073
esv2736595 CNV Deletion 23290073
nsv508497 CNV Loss 20534489
nsv515946 CNV Gain 19592680
esv2736597 CNV Deletion 23290073
esv2391351 CNV Deletion 18987734
nsv396674 CNV Loss 16902084
esv2736598 CNV Deletion 23290073
esv992953 CNV Deletion 20482838

Relevant External Links for PINX1 Gene

HapMap Linkage Disequilibrium report
PINX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PINX1 Gene

Disorders for PINX1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for PINX1 Gene including...

Search for PINX1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for PINX1 Gene

(3) Novoseek inferred disease relationships for PINX1 Gene

Disease -log(P) Hits PubMed IDs
cancer 23.8 8
hepatocellular carcinoma 21.8 3
tumors 12.1 6

Relevant External Links for PINX1

Genetic Association Database (GAD)
PINX1
Human Genome Epidemiology (HuGE) Navigator
PINX1
genes like me logo Genes that share disorders with PINX1: view

No data available for UniProtKB/Swiss-Prot for PINX1 Gene

Publications for PINX1 Gene

  1. The Pin2/TRF1-interacting protein PinX1 is a potent telomerase inhibitor. (PMID: 11701125) Zhou X.Z. … Lu K.P. (Cell 2001) 2 3 4 23
  2. Characterization of interactions between PinX1 and human telomerase subunits hTERT and hTR. (PMID: 15381700) Banik S.S.R. … Counter C.M. (J. Biol. Chem. 2004) 3 4 23
  3. Silencing PinX1 compromises telomere length maintenance as well as tumorigenicity in telomerase-positive human cancer cells. (PMID: 19117989) Zhang B. … Huang J.J. (Cancer Res. 2009) 3 4 23
  4. Human PinX1 mediates TRF1 accumulation in nucleolus and enhances TRF1 binding to telomeres. (PMID: 19265708) Yoo J.E. … Park Y.N. (J. Mol. Biol. 2009) 3 4 23
  5. 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. (PMID: 11003615) Liao C. … Li T.P. (Hepatology 2000) 2 3 4

Products for PINX1 Gene

Sources for PINX1 Gene

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