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 hn... See more...

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
  • Polypyrimidine Tract-Binding Protein 1 3 4
  • 57 KDa RNA-Binding Protein PPTB-1 3 4
  • HNRNP-I 2 3
  • HnRNP I 3 4
  • HNRPI 2 3
  • PTB-1 2 3
  • PTB2 2 3
  • PTB3 2 3
  • PTB4 2 3
  • PPTB 2 3
  • PTB 3 4
  • Heterogeneous Nuclear Ribonucleoprotein Polypeptide I 3
  • RNA-Binding Protein 3
  • HNRNPI 3
  • PTB-T 3
  • PTBP1 5

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 Congenital Myasthenic Syndrome. Among its related pathways are Signaling by GPCR and Gene Expression. 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 Summary 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 , Rfam classification and piRNA Summary for PTBP1 Gene

Genomics for PTBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTBP1

Top Transcription factor binding sites by QIAGEN in the PTBP1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

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)
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

Post-translational modifications for PTBP1 Gene

  • Ubiquitination at Lys13, Lys134, Lys218, Lys410, Lys428, Lys482, and Lys485
  • Modification sites at PhosphoSitePlus

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

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for PTBP1 Gene

GenScript: Design optimal peptide antigens:
  • Heterogeneous nuclear ribonucleoprotein I (PTBP1_HUMAN)
genes like me logo Genes that share domains with PTBP1: view

No data available for Graphical View of Domain Structure and 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 IEA,HDA 22658674
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 10653975
GO:0008187 poly-pyrimidine tract binding TAS 1906036
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

CRISPR Products

miRNA for PTBP1 Gene

miRTarBase miRNAs that target PTBP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
nucleus 5
extracellular 4
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 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,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus TAS 1641332
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 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

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:0006417 regulation of translation IBA 21873635
GO:0008380 RNA splicing TAS 1906036
genes like me logo Genes that share ontologies with PTBP1: view

No data available for SIGNOR curated interactions for PTBP1 Gene

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

mRNA/cDNA for PTBP1 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTBP1

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

Expression for PTBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PTBP1 Gene



Protein tissue co-expression partners for PTBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • Nervous system(4.6)
  • Pancreas(4.4)
  • Intestine(4.4)
  • Blood(3.8)
  • Eye(3.8)
  • Kidney(3.5)
  • Muscle(3)
  • Lymph node(2.9)
  • Heart(2.8)
  • Bone marrow(2.8)
  • Spleen(2.7)
  • Stomach(2.7)
  • Thyroid gland(2.7)
  • Adrenal gland(2.4)
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 30 31
  • 99.4 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PTBP1 31
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PTBP1 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PTBP1 30 31
  • 91.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTBP1 30 31
  • 88.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptbp1 30
  • 87.35 (n)
Mouse
(Mus musculus)
Mammalia Ptbp1 30 17 31
  • 86.43 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PTBP1 30 31
  • 80.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTBP1 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptbp1 30
  • 75.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii ptbp1b