Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PTBP1 Gene

Aliases for PTBP1 Gene

  • Polypyrimidine Tract Binding Protein 1 2 3 5
  • Heterogeneous Nuclear Ribonucleoprotein I 2 3 4
  • Polypyrimidine Tract Binding Protein (Heterogeneous Nuclear Ribonucleoprotein I) 2 3
  • 57 KDa RNA-Binding Protein PPTB-1 3 4
  • HnRNP I 3 4
  • PTB 3 4
  • Heterogeneous Nuclear Ribonucleoprotein Polypeptide I 3
  • RNA-Binding Protein 3
  • HNRNP-I 3
  • HNRNPI 3
  • HNRPI 3
  • PTB-1 3
  • PTB-T 3
  • PTB2 3
  • PTB3 3
  • PTB4 3
  • PPTB 3

External Ids for PTBP1 Gene

Previous HGNC Symbols for PTBP1 Gene

  • PTB

Previous GeneCards Identifiers for PTBP1 Gene

  • GC19P000856
  • GC19P000737
  • GC19P000748
  • GC19P000567

Summaries for PTBP1 Gene

Entrez Gene Summary for PTBP1 Gene

  • This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTBP1 Gene

PTBP1 (Polypyrimidine Tract Binding Protein 1) is a Protein Coding gene. Diseases associated with PTBP1 include Human T-Cell Leukemia Virus Type 2 and Mouth Disease. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ENSG00000268083.

UniProtKB/Swiss-Prot for PTBP1 Gene

  • Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806).

Gene Wiki entry for PTBP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTBP1 Gene

Genomics for PTBP1 Gene

Regulatory Elements for PTBP1 Gene

Enhancers for PTBP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PTBP1 on UCSC Golden Path with GeneCards custom track

Promoters for PTBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PTBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PTBP1 Gene

Chromosome:
19
Start:
797,075 bp from pter
End:
812,327 bp from pter
Size:
15,253 bases
Orientation:
Plus strand

Genomic View for PTBP1 Gene

Genes around PTBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTBP1 Gene

Proteins for PTBP1 Gene

  • Protein details for PTBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26599-PTBP1_HUMAN
    Recommended name:
    Polypyrimidine tract-binding protein 1
    Protein Accession:
    P26599
    Secondary Accessions:
    • Q9BUQ0

    Protein attributes for PTBP1 Gene

    Size:
    531 amino acids
    Molecular mass:
    57221 Da
    Quaternary structure:
    • Monomer. Part of a ternary complex containing KHSRP, PTBP1, PTBP2 and HNRPH1. Interacts with RAVER1 and SFPQ.

    Three dimensional structures from OCA and Proteopedia for PTBP1 Gene

    Alternative splice isoforms for PTBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTBP1 Gene

Proteomics data for PTBP1 Gene at MOPED

Post-translational modifications for PTBP1 Gene

  • Ubiquitination at Lys 13, Lys 134, Lys 218, Lys 410, Lys 428, Lys 482, and Lys 485
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PTBP1 (hnRNP I)

No data available for DME Specific Peptides for PTBP1 Gene

Domains & Families for PTBP1 Gene

Gene Families for PTBP1 Gene

Protein Domains for PTBP1 Gene

Suggested Antigen Peptide Sequences for PTBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P26599

UniProtKB/Swiss-Prot:

PTBP1_HUMAN :
  • Contains 4 RRM (RNA recognition motif) domains.
Domain:
  • Contains 4 RRM (RNA recognition motif) domains.
genes like me logo Genes that share domains with PTBP1: view

Function for PTBP1 Gene

Molecular function for PTBP1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806).

Gene Ontology (GO) - Molecular Function for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008187 poly-pyrimidine tract binding TAS 1906036
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PTBP1: view
genes like me logo Genes that share phenotypes with PTBP1: view

Animal Models for PTBP1 Gene

MGI Knock Outs for PTBP1:

Animal Model Products

miRNA for PTBP1 Gene

miRTarBase miRNAs that target PTBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTBP1 Gene

Localization for PTBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTBP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTBP1 Gene COMPARTMENTS Subcellular localization image for PTBP1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
peroxisome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PTBP1: view

Pathways & Interactions for PTBP1 Gene

genes like me logo Genes that share pathways with PTBP1: view

Pathways by source for PTBP1 Gene

1 Cell Signaling Technology pathway for PTBP1 Gene
1 BioSystems pathway for PTBP1 Gene

SIGNOR curated interactions for PTBP1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0075522 IRES-dependent viral translational initiation IMP 21518806
genes like me logo Genes that share ontologies with PTBP1: view

Drugs & Compounds for PTBP1 Gene

(1) Drugs for PTBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PTBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PTBP1: view

Transcripts for PTBP1 Gene

Unigene Clusters for PTBP1 Gene

Polypyrimidine tract binding protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTBP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ·
SP1: -
SP2: -
SP3:
SP4: -
SP5: - - - - -
SP6: - - -
SP7:
SP8: -
SP9:
SP10: -
SP11: - - -
SP12: - - -
SP13: - - -
SP14: -
SP15:
SP16:
SP17: - - -
SP18:
SP19: - - - - - - - - - - - - - - - - - -
SP20: - - -
SP21:

ExUns: 11c ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16
SP1:
SP2: - -
SP3:
SP4: - -
SP5:
SP6: - -
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17: - - -
SP18: - - -
SP19: - - - - -
SP20:
SP21:

Relevant External Links for PTBP1 Gene

GeneLoc Exon Structure for
PTBP1
ECgene alternative splicing isoforms for
PTBP1

Expression for PTBP1 Gene

mRNA expression in normal human tissues for PTBP1 Gene

Protein differential expression in normal tissues from HIPED for PTBP1 Gene

This gene is overexpressed in Lymph node (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PTBP1 Gene



SOURCE GeneReport for Unigene cluster for PTBP1 Gene Hs.172550

genes like me logo Genes that share expression patterns with PTBP1: view

Protein tissue co-expression partners for PTBP1 Gene

- Elite partner

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PTBP1 Gene

Orthologs for PTBP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTBP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PTBP1 35
  • 88.95 (n)
  • 97.18 (a)
PTBP1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTBP1 35
  • 91.02 (n)
  • 98.2 (a)
PTBP1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptbp1 35
  • 86.43 (n)
  • 96.04 (a)
Ptbp1 16
Ptbp1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTBP1 35
  • 99.4 (n)
  • 100 (a)
PTBP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptbp1 35
  • 87.35 (n)
  • 97.12 (a)
oppossum
(Monodelphis domestica)
Mammalia PTBP1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTBP1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTBP1 35
  • 80.54 (n)
  • 93.92 (a)
PTBP1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTBP1 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptbp1 35
  • 75.97 (n)
  • 88.14 (a)
zebrafish
(Danio rerio)
Actinopterygii ptbp1a 35
  • 73.64 (n)
  • 81.47 (a)
ptbp1a 36
  • 78 (a)
OneToMany
ptbp1b 36
  • 76 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9470 35
fruit fly
(Drosophila melanogaster)
Insecta heph 37
  • 52 (a)
heph 35
  • 59.66 (n)
  • 60.8 (a)
heph 36
  • 33 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003945 35
  • 59.71 (n)
  • 58.25 (a)
worm
(Caenorhabditis elegans)
Secernentea ptb-1 37
  • 49 (a)
ptb-1 35
  • 55.28 (n)
  • 52.92 (a)
ptb-1 36
  • 44 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PTB3 35
  • 48.17 (n)
  • 41.08 (a)
rice
(Oryza sativa)
Liliopsida Os01g0867800 35
  • 49.92 (n)
  • 41.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for PTBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTBP1 Gene

ENSEMBL:
Gene Tree for PTBP1 (if available)
TreeFam:
Gene Tree for PTBP1 (if available)

Paralogs for PTBP1 Gene

Paralogs for PTBP1 Gene

(4) SIMAP similar genes for PTBP1 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for PTBP1 Gene

genes like me logo Genes that share paralogs with PTBP1: view

Variants for PTBP1 Gene

Sequence variations from dbSNP and Humsavar for PTBP1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs7259366 -- 808,679(+) TCACC(C/T)CTGCA nc-transcript-variant, reference, synonymous-codon
rs8100561 -- 799,342(+) GGCCC(A/C/G)GGGAC intron-variant
rs8102405 -- 809,541(+) ggtgt(C/T)gatct intron-variant
rs8103323 -- 798,921(+) CCTGC(C/T)CTCCT intron-variant
rs62131331 -- 797,130(+) ATGGC(A/G)TCTCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PTBP1 Gene

Variant ID Type Subtype PubMed ID
nsv910109 CNV Loss 21882294
nsv470101 CNV Loss 18288195
dgv3508n71 CNV Loss 21882294
dgv3513n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
nsv910224 CNV Loss 21882294
nsv910260 CNV Loss 21882294
dgv3544n71 CNV Gain 21882294
nsv910269 CNV Gain+Loss 21882294
dgv3546n71 CNV Loss 21882294
dgv3547n71 CNV Loss 21882294
dgv3548n71 CNV Loss 21882294
dgv3549n71 CNV Loss 21882294
dgv3550n71 CNV Loss 21882294
nsv828353 CNV Loss 20364138
dgv3551n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
dgv3553n71 CNV Loss 21882294
dgv3554n71 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
nsv828354 CNV Gain 20364138
nsv458321 CNV Loss 19166990
dgv3556n71 CNV Loss 21882294
dgv3557n71 CNV Loss 21882294
dgv566n67 CNV Gain 20364138
nsv910318 CNV Loss 21882294
esv26343 CNV Gain 19812545

Variation tolerance for PTBP1 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTBP1 Gene

Human Gene Mutation Database (HGMD)
PTBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTBP1 Gene

Disorders for PTBP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PTBP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
human t-cell leukemia virus type 2
  • htlv-2
mouth disease
  • mouth diseases
- elite association - COSMIC cancer census association via MalaCards
Search PTBP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PTBP1

Genetic Association Database (GAD)
PTBP1
Human Genome Epidemiology (HuGE) Navigator
PTBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTBP1
genes like me logo Genes that share disorders with PTBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTBP1 Gene

Publications for PTBP1 Gene

  1. Characterization and molecular cloning of polypyrimidine tract- binding protein: a component of a complex necessary for pre-mRNA splicing. (PMID: 1906036) Patton J.G. … Nadal-Ginard B. (Genes Dev. 1991) 2 3 4 67
  2. Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene. (PMID: 11024286) Romanelli M.G. … Morandi C. (Gene 2000) 2 3 23
  3. Polypyrimidine tract-binding protein interacts with coxsackievirus B3 RNA and influences its translation. (PMID: 20071487) Verma B. … Das S. (J. Gen. Virol. 2010) 3 23
  4. Upregulated c-myc expression in multiple myeloma by internal ribosome entry results from increased interactions with and expression of PTB-1 and YB-1. (PMID: 20190818) Cobbold L.C. … Willis A.E. (Oncogene 2010) 3 23
  5. Polypyrimidine tract-binding protein influences negative strand RNA synthesis of dengue virus. (PMID: 19450550) Jiang L. … Liu Y. (Biochem. Biophys. Res. Commun. 2009) 3 23

Products for PTBP1 Gene

Sources for PTBP1 Gene

Content