Entry - *601558 - RNA-BINDING PROTEIN, mRNA-PROCESSING FACTOR; RBPMS - OMIM

 
 
* 601558

RNA-BINDING PROTEIN, mRNA-PROCESSING FACTOR; RBPMS


Alternative titles; symbols

RBPMS1
RNA-BINDING PROTEIN GENE WITH MULTIPLE SPLICING


HGNC Approved Gene Symbol: RBPMS

Cytogenetic location: 8p12     Genomic coordinates (GRCh38): 8:30,384,541-30,572,256 (from NCBI)


TEXT

▼ Cloning and Expression

Shimamoto et al. (1996) established a 1.3-Mb physical map spanning the Werner syndrome (WRN; 277700) region on chromosome 8p and identified a unique gene that they called RBPMS. The single-copy RBPMS gene is alternatively spliced, resulting in at least 12 transcripts with an average length of 1.5 kb. Nine different types of cDNAs encoding an N-terminal RNA-binding motif homologous to that of the Drosophila 'couch potato' protein and C-terminal helix-rich sequences were identified. Northern blot analysis showed that the RBPMS gene was expressed strongly in heart, prostate, intestine, and ovary, and poorly in skeletal muscle, spleen, thymus, brain, and peripheral leukocytes. Shimamoto et al. (1996) noted evidence that alternative splicing of RBPMS was regulated in a tissue-specific fashion.


▼ Gene Structure

Shimamoto et al. (1996) determined that the RBPMS gene contains 16 exons and spans at least 230 kb.


▼ Mapping

By genomic sequence analysis, Shimamoto et al. (1996) mapped the RBPMS gene to chromosome 8p12-p11. Gross (2020) mapped the RBPMS gene to chromosome 8p12 based on an alignment of the RBPMS sequence (GenBank BC003608) with the genomic sequence (GRCh38).


▼ Gene Function

Using yeast 2-hybrid screens, coaffinity purification analysis of transfected HEK293 cells, and bioinformatic analysis, Lim et al. (2006) developed an interaction network for 54 human proteins involved in 23 inherited ataxias. By database analysis, they expanded the core network to include more distantly related interacting proteins that could function as genetic modifiers. ATXN1 (601556) showed a strong direct interaction with RBPMS, and the N-terminal portion of ATXN1 was required for interaction with RBPMS. RBPMS was a main hub in the network and interacted with many proteins, including 2 cerebellar ataxia-associated proteins, ATN1 (607462) and QK1 (609590).


▼ REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 9/22/2020.

  2. Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabo, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., Barabasi, A.-L., Vidal, M., Zoghbi, H. Y. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 125: 801-814, 2006. [PubMed: 16713569, related citations] [Full Text]

  3. Shimamoto, A., Kitao, S., Ichikawa, K., Suzuki, N., Yamabe, Y., Imamura, O., Tokutake, Y., Satoh, M., Matsumoto, T., Kuromitsu, J., Kataoka, H., Sugawara, K., Sugawara, M., Sugimoto, M., Goto, M., Furuichi, Y. A unique human gene that spans over 230 kb in the human chromosome 8p11-12 and codes multiple family proteins sharing RNA-binding motifs. Proc. Nat. Acad. Sci. 93: 10913-10917, 1996. [PubMed: 8855282, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 09/22/2020
Patricia A. Hartz - updated : 01/15/2009
Creation Date:
Victor A. McKusick : 12/5/1996
Edit History:
mgross : 09/23/2020
mgross : 09/22/2020
mgross : 01/15/2009
jamie : 12/6/1996
mark : 12/5/1996

* 601558

RNA-BINDING PROTEIN, mRNA-PROCESSING FACTOR; RBPMS


Alternative titles; symbols

RBPMS1
RNA-BINDING PROTEIN GENE WITH MULTIPLE SPLICING


HGNC Approved Gene Symbol: RBPMS

Cytogenetic location: 8p12     Genomic coordinates (GRCh38): 8:30,384,541-30,572,256 (from NCBI)


TEXT

Cloning and Expression

Shimamoto et al. (1996) established a 1.3-Mb physical map spanning the Werner syndrome (WRN; 277700) region on chromosome 8p and identified a unique gene that they called RBPMS. The single-copy RBPMS gene is alternatively spliced, resulting in at least 12 transcripts with an average length of 1.5 kb. Nine different types of cDNAs encoding an N-terminal RNA-binding motif homologous to that of the Drosophila 'couch potato' protein and C-terminal helix-rich sequences were identified. Northern blot analysis showed that the RBPMS gene was expressed strongly in heart, prostate, intestine, and ovary, and poorly in skeletal muscle, spleen, thymus, brain, and peripheral leukocytes. Shimamoto et al. (1996) noted evidence that alternative splicing of RBPMS was regulated in a tissue-specific fashion.


Gene Structure

Shimamoto et al. (1996) determined that the RBPMS gene contains 16 exons and spans at least 230 kb.


Mapping

By genomic sequence analysis, Shimamoto et al. (1996) mapped the RBPMS gene to chromosome 8p12-p11. Gross (2020) mapped the RBPMS gene to chromosome 8p12 based on an alignment of the RBPMS sequence (GenBank BC003608) with the genomic sequence (GRCh38).


Gene Function

Using yeast 2-hybrid screens, coaffinity purification analysis of transfected HEK293 cells, and bioinformatic analysis, Lim et al. (2006) developed an interaction network for 54 human proteins involved in 23 inherited ataxias. By database analysis, they expanded the core network to include more distantly related interacting proteins that could function as genetic modifiers. ATXN1 (601556) showed a strong direct interaction with RBPMS, and the N-terminal portion of ATXN1 was required for interaction with RBPMS. RBPMS was a main hub in the network and interacted with many proteins, including 2 cerebellar ataxia-associated proteins, ATN1 (607462) and QK1 (609590).


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 9/22/2020.

  2. Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabo, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., Barabasi, A.-L., Vidal, M., Zoghbi, H. Y. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 125: 801-814, 2006. [PubMed: 16713569] [Full Text: https://doi.org/10.1016/j.cell.2006.03.032]

  3. Shimamoto, A., Kitao, S., Ichikawa, K., Suzuki, N., Yamabe, Y., Imamura, O., Tokutake, Y., Satoh, M., Matsumoto, T., Kuromitsu, J., Kataoka, H., Sugawara, K., Sugawara, M., Sugimoto, M., Goto, M., Furuichi, Y. A unique human gene that spans over 230 kb in the human chromosome 8p11-12 and codes multiple family proteins sharing RNA-binding motifs. Proc. Nat. Acad. Sci. 93: 10913-10917, 1996. [PubMed: 8855282] [Full Text: https://doi.org/10.1073/pnas.93.20.10913]


Contributors:
Matthew B. Gross - updated : 09/22/2020
Patricia A. Hartz - updated : 01/15/2009

Creation Date:
Victor A. McKusick : 12/5/1996

Edit History:
mgross : 09/23/2020
mgross : 09/22/2020
mgross : 01/15/2009
jamie : 12/6/1996
mark : 12/5/1996



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: May 23, 2024