Gene Gene information from NCBI Gene database.
Entrez ID 5725
Gene name Polypyrimidine tract binding protein 1
Gene symbol PTBP1
Synonyms (NCBI Gene)
HNRNP-IHNRNPIHNRPIPTBPTB-1PTB-TPTB2PTB3PTB4pPTB
Chromosome 19
Chromosome location 19p13.3
Summary 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 th
miRNA miRNA information provided by mirtarbase database.
520
miRTarBase ID miRNA Experiments Reference
MIRT001345 hsa-miR-1-3p pSILAC 18668040
MIRT002647 hsa-miR-124-3p Microarray 15685193
MIRT002647 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002647 hsa-miR-124-3p Microarray 15685193
MIRT001345 hsa-miR-1-3p Proteomics;Other 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYC Activation 20010808
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 16260624, 21518792
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding TAS 1906036
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600693 9583 ENSG00000011304
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26599
Protein name Polypyrimidine tract-binding protein 1 (PTB) (57 kDa RNA-binding protein PPTB-1) (Heterogeneous nuclear ribonucleoprotein I) (hnRNP I)
Protein 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 bo
PDB 1QM9 , 1SJQ , 1SJR , 2AD9 , 2ADB , 2ADC , 2EVZ , 2N3O , 3ZZY , 3ZZZ , 8BGF , 8BWF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13893 RRM_5 40 152 Domain
PF00076 RRM_1 186 252 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF13893 RRM_5 309 433 Domain
PF00076 RRM_1 456 521 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
Sequence length 531
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    FGFR2 alternative splicing
mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PTBP1-related neurodevelopmental disorder with skeletal dysplasia Pathogenic rs2145008460, rs1599210325 RCV006252383
RCV006252382
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs1058275 RCV005913224
Malignant tumor of esophagus Benign rs1058275 RCV005913223
Melanoma Benign rs1058275 RCV005913225
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 19887373
Adenocarcinoma of Lung Stimulate 36595978
Adrenocortical Carcinoma Stimulate 36595978
Alzheimer Disease Associate 21846794, 31208978
Amyotrophic Lateral Sclerosis Associate 32217641
Asthma Associate 37717070
Astrocytoma Associate 14769134
Autoimmune Diseases Associate 12509450
Bohring syndrome Associate 33141183
Bone Cysts Aneurysmal Associate 33147323