PTBP1 information

PTBP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1QM9, 1SJQ, 1SJR, 2AD9, 2ADB, 2ADC, 2EVZ, 3ZZY, 3ZZZ
Identifiers
Aliases	PTBP1, HNRNP-I, HNRNPI, HNRPI, PTB, PTB-1, PTB-T, PTB2, PTB3, PTB4, pPTB, polypyrimidine tract binding protein 1
External IDs	OMIM: 600693; MGI: 97791; HomoloGene: 49188; GeneCards: PTBP1; OMA:PTBP1 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	812,327 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	79,700,605 bp
RNA expression pattern
	Top expressed in
	thymus; ; nipple; ; mucosa of pharynx; ; stromal cell of endometrium; ; human penis; ; pancreatic ductal cell; ; pylorus; ; islet of Langerhans; ; cecum; ; ventricular zone;
	Top expressed in
	tail of embryo; ; genital tubercle; ; zygote; ; yolk sac; ; ventricular zone; ; lip; ; embryo; ; embryo; ; morula; ; blastocyst;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	pre-mRNA binding; protein binding; poly-pyrimidine tract binding; nucleic acid binding; RNA binding;
Cellular component	nucleolus; extracellular exosome; membrane; nucleus; nucleoplasm;
Biological process	mRNA splicing, via spliceosome; mRNA processing; negative regulation of mRNA splicing, via spliceosome; regulation of alternative mRNA splicing, via spliceosome; negative regulation of RNA splicing; RNA splicing; negative regulation of muscle cell differentiation; fibroblast growth factor receptor signaling pathway; IRES-dependent viral translational initiation; RNA metabolic process; positive regulation of protein dephosphorylation; positive regulation of calcineurin-NFAT signaling cascade;
	Sources:Amigo / QuickGO
Orthologs
	5725
	19205
	ENSG00000011304
	ENSMUSG00000006498
	P26599
	P17225
	NM_002819; NM_031990; NM_031991; NM_175847
	NM_001077363; NM_001283013; NM_008956
	NP_002810; NP_114367; NP_114368
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Polypyrimidine tract-binding protein 1 is a protein that in humans is encoded by the PTBP1 gene.^[5]^[6]^[7]

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.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000011304 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006498 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Patton JG, Mayer SA, Tempst P, Nadal-Ginard B (July 1991). "Characterization and molecular cloning of polypyrimidine tract-binding protein: a component of a complex necessary for pre-mRNA splicing". Genes & Development. 5 (7): 1237–1251. doi:10.1101/gad.5.7.1237. PMID 1906036.
^ Romanelli MG, Lorenzi P, Morandi C (September 2000). "Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene". Gene. 255 (2): 267–272. doi:10.1016/S0378-1119(00)00331-0. PMID 11024286.
^ ^a ^b "Entrez Gene: PTBP1 polypyrimidine tract binding protein 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000011304 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000006498 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1906036-5] Patton JG, Mayer SA, Tempst P, Nadal-Ginard B (July 1991). "Characterization and molecular cloning of polypyrimidine tract-binding protein: a component of a complex necessary for pre-mRNA splicing". Genes & Development. 5 (7): 1237–1251. doi:10.1101/gad.5.7.1237. PMID 1906036.

[pmid11024286-6] Romanelli MG, Lorenzi P, Morandi C (September 2000). "Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene". Gene. 255 (2): 267–272. doi:10.1016/S0378-1119(00)00331-0. PMID 11024286.

[entrez-7] "Entrez Gene: PTBP1 polypyrimidine tract binding protein 1".

PTBP1 information

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Pathway analysis

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Perinucleolar compartment

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