Entry - *180691 - RNA, U5A SMALL NUCLEAR 1; RNU5A-1 - OMIM

 
 
* 180691

RNA, U5A SMALL NUCLEAR 1; RNU5A-1


Alternative titles; symbols

RNA, U5A SMALL NUCLEAR; RNU5A
snRNA, U5A
RNA, U5 SMALL NUCLEAR; RNU5


HGNC Approved Gene Symbol: RNU5A-1

Cytogenetic location: 15q22.31     Genomic coordinates (GRCh38): 15:65,296,051-65,296,167 (from NCBI)


TEXT

▼ Gene Function

Splicing of nuclear precursor-mRNA (pre-mRNA) is the process by which introns are removed from mRNA precursors to form functional mature mRNAs. The process is mediated by the spliceosome, a complex ribonucleoprotein composed of 5 small nuclear RNAs (U1, 180680; U2, 180690; U3, 180710; U5; and U6, 180692) and numerous proteins. Introns are removed by means of 2 consecutive transesterification reactions. Introns are defined only by 3 short consensus sequences: the 5-prime splice site, the branch point region, and 3-prime splice site. Sontheimer and Steitz (1993) characterized the U5 and U6 snRNAs as components of the active site of the spliceosome. Wise (1993) reviewed the functioning of the spliceosome.


▼ Mapping

Gross (2023) mapped the RNU5A-1 gene to chromosome 15q22.31 based on an alignment of the RNU5A-1 sequence (GenBank NR_002756) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 5/2/2023.

  2. Sontheimer, E. J., Steitz, J. A. The U5 and U6 small nuclear RNAs as active site components of the spliceosome. Science 262: 1989-1996, 1993. Note: Erratum: Science 263: 739 only, 1994. [PubMed: 8266094, related citations] [Full Text]

  3. Wise, J. A. Guides to the heart of the spliceosome. Science 262: 1978-1979, 1993. [PubMed: 8266091, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 05/02/2023
Creation Date:
Victor A. McKusick : 1/12/1994
Edit History:
mgross : 05/02/2023
terry : 04/04/2013
mgross : 5/21/2008
mgross : 5/21/2008
terry : 7/7/1994
carol : 1/12/1994

* 180691

RNA, U5A SMALL NUCLEAR 1; RNU5A-1


Alternative titles; symbols

RNA, U5A SMALL NUCLEAR; RNU5A
snRNA, U5A
RNA, U5 SMALL NUCLEAR; RNU5


HGNC Approved Gene Symbol: RNU5A-1

Cytogenetic location: 15q22.31     Genomic coordinates (GRCh38): 15:65,296,051-65,296,167 (from NCBI)


TEXT

Gene Function

Splicing of nuclear precursor-mRNA (pre-mRNA) is the process by which introns are removed from mRNA precursors to form functional mature mRNAs. The process is mediated by the spliceosome, a complex ribonucleoprotein composed of 5 small nuclear RNAs (U1, 180680; U2, 180690; U3, 180710; U5; and U6, 180692) and numerous proteins. Introns are removed by means of 2 consecutive transesterification reactions. Introns are defined only by 3 short consensus sequences: the 5-prime splice site, the branch point region, and 3-prime splice site. Sontheimer and Steitz (1993) characterized the U5 and U6 snRNAs as components of the active site of the spliceosome. Wise (1993) reviewed the functioning of the spliceosome.


Mapping

Gross (2023) mapped the RNU5A-1 gene to chromosome 15q22.31 based on an alignment of the RNU5A-1 sequence (GenBank NR_002756) with the genomic sequence (GRCh38).

REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 5/2/2023.

  2. Sontheimer, E. J., Steitz, J. A. The U5 and U6 small nuclear RNAs as active site components of the spliceosome. Science 262: 1989-1996, 1993. Note: Erratum: Science 263: 739 only, 1994. [PubMed: 8266094] [Full Text: https://doi.org/10.1126/science.8266094]

  3. Wise, J. A. Guides to the heart of the spliceosome. Science 262: 1978-1979, 1993. [PubMed: 8266091] [Full Text: https://doi.org/10.1126/science.8266091]


Contributors:
Matthew B. Gross - updated : 05/02/2023

Creation Date:
Victor A. McKusick : 1/12/1994

Edit History:
mgross : 05/02/2023
terry : 04/04/2013
mgross : 5/21/2008
mgross : 5/21/2008
terry : 7/7/1994
carol : 1/12/1994



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 28, 2024