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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
PTBP1-related neurodevelopmental disorder with skeletal dysplasia Pathogenic rs2145008460, rs1599210325 RCV006252383
RCV006252382
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 31387917
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 26980745
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 36595978 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21846794, 31208978 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 19781077, 19833869, 20133711, 22055719, 22957047, 23042786, 24262168, 24840975, 24899262, 24920338, 25239623, 25429138, 26330466, 26895297, 28549443
View all (6 more)
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32217641 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 19781077
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 23046583
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 12376462
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26234680
★☆☆☆☆
Found in Text Mining only