Entry - *602338 - PRE-mRNA-PROCESSING FACTOR KINASE PRP4K; PRP4K - OMIM

 
 
* 602338

PRE-mRNA-PROCESSING FACTOR KINASE PRP4K; PRP4K


Alternative titles; symbols

PRE-mRNA-PROCESSING FACTOR 4B; PRPF4B
PRECURSOR mRNA-PROCESSING FACTOR 4, S. POMBE, HOMOLOG OF, B
PRP4, YEAST, HOMOLOG OF


HGNC Approved Gene Symbol: PRP4K

Cytogenetic location: 6p25.2   Genomic coordinates (GRCh38) : 6:4,021,300-4,064,983 (from NCBI)


TEXT

▼ Description

The PRP4K gene is the human homolog of Schizosaccharomyces pombe Prp4, which encodes a protein kinase that appears to be involved in pre-mRNA splicing (Gross et al., 1997). Based on kinase domain sequence, Prp4 belongs to the Clk (CDC-like kinase) family.


▼ Cloning and Expression

Using a PCR approach, Gross et al. (1997) identified human and mouse homologs of S. pombe Prp4. The human and mouse amino acid sequences are 98% identical, and the mammalian sequence shared 44% identity with that of the S. pombe protein. Gross et al. (1997) demonstrated that Prp4 and a recombinant fusion protein consisting of the yeast N terminus with the mouse kinase domain phosphorylated the human arginine/serine-rich splicing factor SFRS2 (600813) in vitro.


▼ Mapping

Stumpf (2024) mapped the PRP4K gene to chromosome 6p25.2 based on an alignment of the PRP4K sequence (GenBank AF283465) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Gross, T., Lutzelberger, M., Wiegmann, H., Klingenhoff, A., Shenoy, S., Kaufer, N. F. Functional analysis of the fission yeast Prp4 protein kinase involved in pre-mRNA splicing and isolation of a putative mammalian homologue. Nucleic Acids Res. 25: 1028-1035, 1997. [PubMed: 9102632, related citations] [Full Text]

  2. Stumpf, A. M. Personal Communication. Baltimore, Md. 09/30/2024.


Contributors:
Anne M. Stumpf - updated : 09/30/2024
Joanna S. Amberger - updated : 8/29/2002
Creation Date:
Rebekah S. Rasooly : 2/10/1998
Edit History:
alopez : 09/30/2024
carol : 09/25/2019
joanna : 09/10/2009
joanna : 8/29/2002
dholmes : 2/19/1998
alopez : 2/10/1998

* 602338

PRE-mRNA-PROCESSING FACTOR KINASE PRP4K; PRP4K


Alternative titles; symbols

PRE-mRNA-PROCESSING FACTOR 4B; PRPF4B
PRECURSOR mRNA-PROCESSING FACTOR 4, S. POMBE, HOMOLOG OF, B
PRP4, YEAST, HOMOLOG OF


HGNC Approved Gene Symbol: PRP4K

Cytogenetic location: 6p25.2   Genomic coordinates (GRCh38) : 6:4,021,300-4,064,983 (from NCBI)


TEXT

Description

The PRP4K gene is the human homolog of Schizosaccharomyces pombe Prp4, which encodes a protein kinase that appears to be involved in pre-mRNA splicing (Gross et al., 1997). Based on kinase domain sequence, Prp4 belongs to the Clk (CDC-like kinase) family.


Cloning and Expression

Using a PCR approach, Gross et al. (1997) identified human and mouse homologs of S. pombe Prp4. The human and mouse amino acid sequences are 98% identical, and the mammalian sequence shared 44% identity with that of the S. pombe protein. Gross et al. (1997) demonstrated that Prp4 and a recombinant fusion protein consisting of the yeast N terminus with the mouse kinase domain phosphorylated the human arginine/serine-rich splicing factor SFRS2 (600813) in vitro.


Mapping

Stumpf (2024) mapped the PRP4K gene to chromosome 6p25.2 based on an alignment of the PRP4K sequence (GenBank AF283465) with the genomic sequence (GRCh38).

REFERENCES

  1. Gross, T., Lutzelberger, M., Wiegmann, H., Klingenhoff, A., Shenoy, S., Kaufer, N. F. Functional analysis of the fission yeast Prp4 protein kinase involved in pre-mRNA splicing and isolation of a putative mammalian homologue. Nucleic Acids Res. 25: 1028-1035, 1997. [PubMed: 9102632] [Full Text: https://doi.org/10.1093/nar/25.5.1028]

  2. Stumpf, A. M. Personal Communication. Baltimore, Md. 09/30/2024.


Contributors:
Anne M. Stumpf - updated : 09/30/2024
Joanna S. Amberger - updated : 8/29/2002

Creation Date:
Rebekah S. Rasooly : 2/10/1998

Edit History:
alopez : 09/30/2024
carol : 09/25/2019
joanna : 09/10/2009
joanna : 8/29/2002
dholmes : 2/19/1998
alopez : 2/10/1998



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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: Nov. 16, 2024