PTBP1

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

PTBP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPTBP1, HNRNP-I, HNRNPI, HNRPI, PTB, PTB-1, PTB-T, PTB2, PTB3, PTB4, pPTB, polypyrimidine tract binding protein 1
External IDsOMIM: 600693 MGI: 97791 HomoloGene: 49188 GeneCards: PTBP1
Orthologs
SpeciesHumanMouse
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 MbChr 10: 79.69 – 79.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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.[8]

Interactions

PTBP1 has been shown to interact with HNRPK,[9] PCBP2,[9] SFPQ[10][11] and HNRNPL.[9][12]

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.[13]

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
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