Entry - *600914 - SPLICING FACTOR, SERINE/ARGININE-RICH, 5; SRSF5 - OMIM
 
* 600914

SPLICING FACTOR, SERINE/ARGININE-RICH, 5; SRSF5


Alternative titles; symbols

SERINE/ARGININE-RICH SPLICING FACTOR 5
SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5
SPLICING FACTOR, ARGININE/SERINE-RICH, 40-KD; SRp40


HGNC Approved Gene Symbol: SRSF5

Cytogenetic location: 14q24.1     Genomic coordinates (GRCh38): 14:69,767,142-69,772,005 (from NCBI)


TEXT

Cloning and Expression

Diamond et al. (1993) isolated a delayed-early gene (referred to as HRS by them) from the rat H35 liver cell line by subtractive hybridization and differential screening following induction by insulin. The predicted protein is 259 amino acids long and is highly basic. The sequence of HRS is related to the human SF2/ASF protein (600812) and the Drosophila B52/SRp55 protein. The latter has been shown to function in vitro to regulate 5-prime splice site selection. Northern blots showed highest levels of HRS transcription in the spleen and thymus, tissues with actively proliferating cells. The authors noted that HRS is likely to be a member of a larger family of regulators of alternative pre-mRNA splicing.

Screaton et al. (1995) isolated a cDNA representing the human homolog of rat SRp40/HRS, which was later identified as SFRS5. Human SRp40 is 99% similar at the amino acid level and 94% similar at the nucleotide level within the coding sequence to rat HRS. Recombinant SRp40 protein is active in constitutive splicing, as shown by its ability to complement a HeLa cell S100 extract deficient in SR proteins. See also SFRS6 (601944).


Gene Function

Lareau et al. (2007) reported that in every member of the human SR family of splicing regulators, highly or ultraconserved elements are alternatively spliced, either as alternative 'poison cassette exons' containing early in-frame stop codons, or as alternative introns in the 3-prime untranslated region. These alternative splicing events target the resulting mRNAs for degradation by means of an RNA surveillance pathway called nonsense-mediated mRNA decay. Mouse orthologs of the human SR proteins exhibit the same unproductive splicing patterns. Lareau et al. (2007) concluded that their results suggest that unproductive splicing is important for regulation of the entire SR family and found that unproductive splicing associated with conserved regions has arisen independently in different SR genes, suggesting that splicing factors may readily acquire this form of regulation.


Mapping

Stumpf (2023) mapped the SRSF5 gene to chromosome 14q24.1 based on an alignment of the SRSF5 sequence (GenBank BC040209) with the genomic sequence (GRCh38).


REFERENCES

  1. Diamond, R. H., Du, K., Lee, V. M., Mohn, K. L., Haber, B. A., Tewari, D. S., Taub, R. Novel delayed-early and highly insulin-induced growth response genes: identification of HRS, a potential regulator of alternative pre-mRNA splicing. J. Biol. Chem. 268: 15185-15192, 1993. [PubMed: 7686911, related citations]

  2. Lareau, L. F., Inada, M., Green, R. E., Wengrod, J. C., Brenner, S. E. Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements. Nature 446: 926-929, 2007. [PubMed: 17361132, related citations] [Full Text]

  3. Screaton, G. R., Caceres, J. F., Mayeda, A., Bell, M. V., Plebanski, M., Bell, M. V., Plebanski, M., Jackson, D. G., Bell, J. I., Krainer, A. R. Identification and characterization of three members of the human SR family of pre-mRNA splicing factors. EMBO J. 14: 4336-4349, 1995. [PubMed: 7556075, related citations] [Full Text]

  4. Stumpf, A. M. Personal Communication. Baltimore, Md. 11/30/2023.


Ada Hamosh - updated : 5/29/2007
Lori M. Kelman - updated : 9/3/1997
Creation Date:
Alan F. Scott : 11/3/1995
alopez : 11/30/2023
mgross : 12/07/2011
mgross : 2/4/2009
carol : 6/15/2007
carol : 6/13/2007
alopez : 6/12/2007
terry : 5/29/2007
alopez : 12/17/1998
alopez : 9/25/1997
dholmes : 9/3/1997
dholmes : 9/3/1997
dholmes : 9/3/1997
dholmes : 8/28/1997
mark : 4/7/1996
mark : 11/3/1995

* 600914

SPLICING FACTOR, SERINE/ARGININE-RICH, 5; SRSF5


Alternative titles; symbols

SERINE/ARGININE-RICH SPLICING FACTOR 5
SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5
SPLICING FACTOR, ARGININE/SERINE-RICH, 40-KD; SRp40


HGNC Approved Gene Symbol: SRSF5

Cytogenetic location: 14q24.1     Genomic coordinates (GRCh38): 14:69,767,142-69,772,005 (from NCBI)


TEXT

Cloning and Expression

Diamond et al. (1993) isolated a delayed-early gene (referred to as HRS by them) from the rat H35 liver cell line by subtractive hybridization and differential screening following induction by insulin. The predicted protein is 259 amino acids long and is highly basic. The sequence of HRS is related to the human SF2/ASF protein (600812) and the Drosophila B52/SRp55 protein. The latter has been shown to function in vitro to regulate 5-prime splice site selection. Northern blots showed highest levels of HRS transcription in the spleen and thymus, tissues with actively proliferating cells. The authors noted that HRS is likely to be a member of a larger family of regulators of alternative pre-mRNA splicing.

Screaton et al. (1995) isolated a cDNA representing the human homolog of rat SRp40/HRS, which was later identified as SFRS5. Human SRp40 is 99% similar at the amino acid level and 94% similar at the nucleotide level within the coding sequence to rat HRS. Recombinant SRp40 protein is active in constitutive splicing, as shown by its ability to complement a HeLa cell S100 extract deficient in SR proteins. See also SFRS6 (601944).


Gene Function

Lareau et al. (2007) reported that in every member of the human SR family of splicing regulators, highly or ultraconserved elements are alternatively spliced, either as alternative 'poison cassette exons' containing early in-frame stop codons, or as alternative introns in the 3-prime untranslated region. These alternative splicing events target the resulting mRNAs for degradation by means of an RNA surveillance pathway called nonsense-mediated mRNA decay. Mouse orthologs of the human SR proteins exhibit the same unproductive splicing patterns. Lareau et al. (2007) concluded that their results suggest that unproductive splicing is important for regulation of the entire SR family and found that unproductive splicing associated with conserved regions has arisen independently in different SR genes, suggesting that splicing factors may readily acquire this form of regulation.


Mapping

Stumpf (2023) mapped the SRSF5 gene to chromosome 14q24.1 based on an alignment of the SRSF5 sequence (GenBank BC040209) with the genomic sequence (GRCh38).


REFERENCES

  1. Diamond, R. H., Du, K., Lee, V. M., Mohn, K. L., Haber, B. A., Tewari, D. S., Taub, R. Novel delayed-early and highly insulin-induced growth response genes: identification of HRS, a potential regulator of alternative pre-mRNA splicing. J. Biol. Chem. 268: 15185-15192, 1993. [PubMed: 7686911]

  2. Lareau, L. F., Inada, M., Green, R. E., Wengrod, J. C., Brenner, S. E. Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements. Nature 446: 926-929, 2007. [PubMed: 17361132] [Full Text: https://doi.org/10.1038/nature05676]

  3. Screaton, G. R., Caceres, J. F., Mayeda, A., Bell, M. V., Plebanski, M., Bell, M. V., Plebanski, M., Jackson, D. G., Bell, J. I., Krainer, A. R. Identification and characterization of three members of the human SR family of pre-mRNA splicing factors. EMBO J. 14: 4336-4349, 1995. [PubMed: 7556075] [Full Text: https://doi.org/10.1002/j.1460-2075.1995.tb00108.x]

  4. Stumpf, A. M. Personal Communication. Baltimore, Md. 11/30/2023.


Contributors:
Ada Hamosh - updated : 5/29/2007
Lori M. Kelman - updated : 9/3/1997

Creation Date:
Alan F. Scott : 11/3/1995

Edit History:
alopez : 11/30/2023
mgross : 12/07/2011
mgross : 2/4/2009
carol : 6/15/2007
carol : 6/13/2007
alopez : 6/12/2007
terry : 5/29/2007
alopez : 12/17/1998
alopez : 9/25/1997
dholmes : 9/3/1997
dholmes : 9/3/1997
dholmes : 9/3/1997
dholmes : 8/28/1997
mark : 4/7/1996
mark : 11/3/1995