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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) Band 19p13.3 Start 797,075 bp End 812,327 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 C1|10 39.72 cM Start 79,690,261 bp End 79,700,605 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 5725 19205 Ensembl ENSG00000011304 ENSMUSG00000006498 UniProt P26599 P17225 RefSeq (mRNA) NM_002819 NM_031990 NM_031991 NM_175847 NM_001077363 NM_001283013 NM_008956 RefSeq (protein) NP_002810 NP_114367 NP_114368 n/a Location (UCSC) Chr 19: 0.8 – 0.81 Mb Chr 10: 79.69 – 79.7 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Polypyrimidine tract-binding protein 1 is a protein that in humans is encoded by the 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.

Evolution

In brains of mammals, transcripts from the PTBP1 gene are missing one exon (exon 9) that is included in the brains of other vertebrates, as a result of alternative splicing. This contributes to the evolutionary difference between the nervous system of mammals and other vertebrates.

Interactions

PTBP1 has been shown to interact with HNRPK, PCBP2, SFPQ and HNRNPL.

This gene is targeted by the microRNA miR-124. During neuronal differentiation, miR-124 reduces PTBP1 levels, leading to the accumulation of correctly spliced PTBP2 mRNA and a dramatic increase in PTBP2 protein.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000011304 – Ensembl, May 2017
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.
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.
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.
7. ^ "Entrez Gene: PTBP1 polypyrimidine tract binding protein 1".
8. Gueroussov S, Gonatopoulos-Pournatzis T, Irimia M, Raj B, Lin ZY, Gingras AC, Blencowe BJ (August 2015). "An alternative splicing event amplifies evolutionary differences between vertebrates". Science. 349 (6250): 868–873. Bibcode:2015Sci...349..868G. doi:10.1126/science.aaa8381. hdl:10230/27120. PMID 26293963. S2CID 45304389.
9. ^ Kim JH, Hahm B, Kim YK, Choi M, Jang SK (May 2000). "Protein-protein interaction among hnRNPs shuttling between nucleus and cytoplasm". Journal of Molecular Biology. 298 (3): 395–405. doi:10.1006/jmbi.2000.3687. PMID 10772858.
10. Patton JG, Porro EB, Galceran J, Tempst P, Nadal-Ginard B (March 1993). "Cloning and characterization of PSF, a novel pre-mRNA splicing factor". Genes & Development. 7 (3): 393–406. doi:10.1101/gad.7.3.393. PMID 8449401.
11. Meissner M, Dechat T, Gerner C, Grimm R, Foisner R, Sauermann G (January 2000). "Differential nuclear localization and nuclear matrix association of the splicing factors PSF and PTB". Journal of Cellular Biochemistry. 76 (4): 559–566. doi:10.1002/(SICI)1097-4644(20000315)76:4<559::AID-JCB4>3.0.CO;2-U. PMID 10653975. S2CID 25669908.
12. Hahm B, Cho OH, Kim JE, Kim YK, Kim JH, Oh YL, Jang SK (April 1998). "Polypyrimidine tract-binding protein interacts with HnRNP L". FEBS Letters. 425 (3): 401–406. doi:10.1016/S0014-5793(98)00269-5. PMID 9563502. S2CID 4980318.
13. Makeyev EV, Zhang J, Carrasco MA, Maniatis T (August 2007). "The MicroRNA miR-124 promotes neuronal differentiation by triggering brain-specific alternative pre-mRNA splicing". Molecular Cell. 27 (3): 435–448. doi:10.1016/j.molcel.2007.07.015. PMC 3139456. PMID 17679093.

Further reading

• Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE, Vandekerckhove J (December 1992). "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes". Electrophoresis. 13 (12): 960–969. doi:10.1002/elps.11501301199. PMID 1286667. S2CID 41855774.
• Ghetti A, Piñol-Roma S, Michael WM, Morandi C, Dreyfuss G (July 1992). "hnRNP I, the polypyrimidine tract-binding protein: distinct nuclear localization and association with hnRNAs". Nucleic Acids Research. 20 (14): 3671–3678. doi:10.1093/nar/20.14.3671. PMC 334017. PMID 1641332.
• Gil A, Sharp PA, Jamison SF, Garcia-Blanco MA (July 1991). "Characterization of cDNAs encoding the polypyrimidine tract-binding protein". Genes & Development. 5 (7): 1224–1236. doi:10.1101/gad.5.7.1224. PMID 1906035.
• Raimondi E, Romanelli MG, Moralli D, Gamberi C, Russo MP, Morandi C (June 1995). "Assignment of the human gene encoding heterogeneous nuclear RNA ribonucleoprotein I (PTB) to chromosome 14q23-q24.1". Genomics. 27 (3): 553–555. doi:10.1006/geno.1995.1093. PMID 7558043.
• Patton JG, Porro EB, Galceran J, Tempst P, Nadal-Ginard B (March 1993). "Cloning and characterization of PSF, a novel pre-mRNA splicing factor". Genes & Development. 7 (3): 393–406. doi:10.1101/gad.7.3.393. PMID 8449401.
• Wu-Baer F, Lane WS, Gaynor RB (February 1996). "Identification of a group of cellular cofactors that stimulate the binding of RNA polymerase II and TRP-185 to human immunodeficiency virus 1 TAR RNA". The Journal of Biological Chemistry. 271 (8): 4201–4208. doi:10.1074/jbc.271.8.4201. PMID 8626763.
• Black AC, Luo J, Chun S, Bakker A, Fraser JK, Rosenblatt JD (1997). "Specific binding of polypyrimidine tract binding protein and hnRNP A1 to HIV-1 CRS elements". Virus Genes. 12 (3): 275–285. doi:10.1007/bf00284648. PMID 8883365. S2CID 11678179.
• Huang S, Deerinck TJ, Ellisman MH, Spector DL (June 1997). "The dynamic organization of the perinucleolar compartment in the cell nucleus". The Journal of Cell Biology. 137 (5): 965–974. doi:10.1083/jcb.137.5.965. PMC 2136227. PMID 9166399.
• Oh YL, Hahm B, Kim YK, Lee HK, Lee JW, Song O, et al. (April 1998). "Determination of functional domains in polypyrimidine-tract-binding protein". The Biochemical Journal. 331 (Pt 1): 169–175. doi:10.1042/bj3310169. PMC 1219335. PMID 9512476.
• Hahm B, Cho OH, Kim JE, Kim YK, Kim JH, Oh YL, Jang SK (April 1998). "Polypyrimidine tract-binding protein interacts with HnRNP L". FEBS Letters. 425 (3): 401–406. doi:10.1016/S0014-5793(98)00269-5. PMID 9563502. S2CID 4980318.
• Meissner M, Dechat T, Gerner C, Grimm R, Foisner R, Sauermann G (January 2000). "Differential nuclear localization and nuclear matrix association of the splicing factors PSF and PTB". Journal of Cellular Biochemistry. 76 (4): 559–566. doi:10.1002/(SICI)1097-4644(20000315)76:4<559::AID-JCB4>3.0.CO;2-U. PMID 10653975. S2CID 25669908.
• Kim JH, Hahm B, Kim YK, Choi M, Jang SK (May 2000). "Protein-protein interaction among hnRNPs shuttling between nucleus and cytoplasm". Journal of Molecular Biology. 298 (3): 395–405. doi:10.1006/jmbi.2000.3687. PMID 10772858.
• Conte MR, Grüne T, Ghuman J, Kelly G, Ladas A, Matthews S, Curry S (June 2000). "Structure of tandem RNA recognition motifs from polypyrimidine tract binding protein reveals novel features of the RRM fold". The EMBO Journal. 19 (12): 3132–3141. doi:10.1093/emboj/19.12.3132. PMC 203357. PMID 10856256.
• Markovtsov V, Nikolic JM, Goldman JA, Turck CW, Chou MY, Black DL (October 2000). "Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein". Molecular and Cellular Biology. 20 (20): 7463–7479. doi:10.1128/MCB.20.20.7463-7479.2000. PMC 86300. PMID 11003644.
• de Vries H, Rüegsegger U, Hübner W, Friedlein A, Langen H, Keller W (November 2000). "Human pre-mRNA cleavage factor II(m) contains homologs of yeast proteins and bridges two other cleavage factors". The EMBO Journal. 19 (21): 5895–5904. doi:10.1093/emboj/19.21.5895. PMC 305781. PMID 11060040.
• Zang WQ, Li B, Huang PY, Lai MM, Yen TS (November 2001). "Role of polypyrimidine tract binding protein in the function of the hepatitis B virus posttranscriptional regulatory element". Journal of Virology. 75 (22): 10779–10786. doi:10.1128/JVI.75.22.10779-10786.2001. PMC 114659. PMID 11602719.
• Hüttelmaier S, Illenberger S, Grosheva I, Rüdiger M, Singer RH, Jockusch BM (November 2001). "Raver1, a dual compartment protein, is a ligand for PTB/hnRNPI and microfilament attachment proteins". The Journal of Cell Biology. 155 (5): 775–786. doi:10.1083/jcb.200105044. PMC 2150882. PMID 11724819.
• Kamath RV, Leary DJ, Huang S (December 2001). "Nucleocytoplasmic shuttling of polypyrimidine tract-binding protein is uncoupled from RNA export". Molecular Biology of the Cell. 12 (12): 3808–3820. doi:10.1091/mbc.12.12.3808. PMC 60757. PMID 11739782.

• Genes on human chromosome 19