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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
  • Polypyrimidine Tract-Binding Protein 1 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 Conventional Angiosarcoma. Among its related pathways are mRNA Splicing - Major Pathway and Signaling by FGFR2. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PTBP3.

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

Additional gene information for PTBP1 Gene

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

Genomics for PTBP1 Gene

GeneHancer (GH) Regulatory Elements for PTBP1 Gene

Promoters and enhancers for PTBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I000795 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 577 +2.2 2231 8.6 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 PTBP1 DAZAP1 TCF3 TMEM259 STK11 MED16 CIRBP ENSG00000267317 RNF126 POLRMT
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 62.1 +459.8 459784 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I001202 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 56 +409.7 409682 8 ZFP64 FEZF1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A STK11 CIRBP TMEM259 DAZAP1 LOC100288123 TCF3 PTBP1 GRIN3B DOT1L ENSG00000267317
GH19I001019 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 52 +224.1 224132 4.4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 TMEM259 GC19P001025 RNU6-2 TCF3 LOC100288123 DAZAP1 GRIN3B PTBP1 CIRBP MED16
GH19I001382 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 50.9 +587.0 586951 2.2 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NDUFS7 PIR43938 TRF-GAA1-6 TRN-GTT2-6 PIR60227 CIRBP SF3A2 TMEM259 MUM1 TCF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PTBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTBP1 gene promoter:

Genomic Locations for PTBP1 Gene

Genomic Locations for PTBP1 Gene
chr19:797,075-812,327
(GRCh38/hg38)
Size:
15,253 bases
Orientation:
Plus strand
chr19:797,075-812,327
(GRCh37/hg19)

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

Post-translational modifications for PTBP1 Gene

  • Ubiquitination at isoforms=2, 313, isoforms=2, 3134, Lys218, isoforms=2, 3410, isoforms=2, 3428, isoforms=2, 3482, and isoforms=2, 3485

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PTBP1 (hnRNP I)
  • Abcam antibodies for PTBP1
  • Cloud-Clone Corp. Antibodies for PTBP1

No data available for DME Specific Peptides for PTBP1 Gene

Domains & Families for PTBP1 Gene

Gene Families for PTBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PTBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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).

Phenotypes From GWAS Catalog for PTBP1 Gene

Gene Ontology (GO) - Molecular Function for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI 10653975
GO:0008187 poly-pyrimidine tract binding TAS 1906036
GO:0036002 pre-mRNA binding IDA 16260624
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:

miRNA for PTBP1 Gene

miRTarBase miRNAs that target PTBP1

Clone Products

  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTBP1 gene
Compartment Confidence
extracellular 5
nucleus 5
peroxisome 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus TAS 1641332
GO:0016020 membrane HDA,IDA 19946888
GO:0070062 extracellular exosome HDA,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

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:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 16260624
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA,TAS 1906036
GO:0008380 RNA splicing TAS 1906036
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
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:

Clone Products

  • Addgene plasmids for PTBP1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PTBP1 Gene



Protein tissue co-expression partners for PTBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTBP1 Gene:

PTBP1

SOURCE GeneReport for Unigene cluster for PTBP1 Gene:

Hs.172550

Evidence on tissue expression from TISSUES for PTBP1 Gene

  • Skin(4.9)
  • Lung(4.8)
  • Liver(4.7)
  • Nervous system(4.4)
  • Pancreas(4.3)
  • Intestine(4.2)
  • Blood(3.5)
  • Eye(3.3)
  • Kidney(2.9)
  • Muscle(2.4)
  • Lymph node(2.3)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with PTBP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PTBP1 33 34
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia PTBP1 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTBP1 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTBP1 33 34
  • 91.02 (n)
cow
(Bos Taurus)
Mammalia PTBP1 33 34
  • 88.95 (n)
rat
(Rattus norvegicus)
Mammalia Ptbp1 33
  • 87.35 (n)
mouse
(Mus musculus)
Mammalia Ptbp1 33 16 34
  • 86.43 (n)
chicken
(Gallus gallus)
Aves PTBP1 33 34
  • 80.54 (n)
lizard
(Anolis carolinensis)
Reptilia PTBP1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptbp1 33
  • 75.97 (n)
zebrafish
(Danio rerio)
Actinopterygii ptbp1b 34
  • 76 (a)
OneToMany
ptbp1a 33 34
  • 73.64 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9470 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003945 33
  • 59.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta heph 35 33 34
  • 59.66 (n)
worm
(Caenorhabditis elegans)
Secernentea ptb-1 35 33 34
  • 55.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PTB3 33
  • 48.17 (n)
rice
(Oryza sativa)
Liliopsida Os01g0867800 33
  • 49.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToMany
Species where no ortholog for PTBP1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000114324 -- 809,123(+) C/T intron_variant
rs1000134725 -- 801,055(+) C/T intron_variant
rs1000207392 -- 797,705(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000299135 -- 797,187(+) T/C upstream_transcript_variant
rs1000399502 -- 807,171(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv953938 CNV deletion 24416366
nsv828354 CNV gain 20364138
nsv828353 CNV loss 20364138
nsv578172 CNV loss 21841781
nsv578169 CNV loss 21841781
nsv578168 CNV loss 21841781
nsv578167 CNV loss 21841781
nsv470101 CNV loss 18288195
nsv458321 CNV loss 19166990
nsv1144848 CNV deletion 24896259
nsv1126496 CNV deletion 24896259
nsv1072833 CNV deletion 25765185
esv3893155 CNV gain 25118596
esv3643372 CNV gain 21293372
esv3643371 CNV loss 21293372
esv3643364 CNV gain 21293372
esv26343 CNV gain 19812545
dgv6176n54 CNV loss 21841781
dgv566n67 CNV gain 20364138
dgv134n111 CNV deletion 26073780

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)

Additional Variant Information for PTBP1 Gene

Human Gene Mutation Database (HGMD)
PTBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTBP1

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

Disorders for PTBP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PTBP1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
human t-cell leukemia virus type 2
  • htlv-2
conventional angiosarcoma
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- elite association - COSMIC cancer census association via MalaCards
Search PTBP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Structure of the two most C-terminal RNA recognition motifs of PTB using segmental isotope labeling. (PMID: 16362043) Vitali F … Allain FH (The EMBO journal 2006) 3 4 22 58
  2. Structure of PTB bound to RNA: specific binding and implications for splicing regulation. (PMID: 16179478) Oberstrass FC … Allain FH (Science (New York, N.Y.) 2005) 3 4 22 58
  3. Structure and RNA interactions of the N-terminal RRM domains of PTB. (PMID: 15341728) Simpson PJ … Matthews S (Structure (London, England : 1993) 2004) 3 4 22 58
  4. Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene. (