Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5725
Gene name Gene Name - the full gene name approved by the HGNC.
Polypyrimidine tract binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTBP1
Synonyms (NCBI Gene) Gene synonyms aliases
HNRNP-I, HNRNPI, HNRPI, PTB, PTB-1, PTB-T, PTB2, PTB3, PTB4, pPTB
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez 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 th
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
MYC Activation 20010808
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 16260624, 21518792
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003729 Function MRNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 10653975, 11514619, 16189514, 16373488, 16713569, 21911577, 22365833, 25416956, 26871637, 31515488
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600693 9583 ENSG00000011304
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 12376462
Unknown
Disease term Disease name Evidence References Source
Glaucoma Glaucoma GWAS
Associations from Text Mining
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