Entry - *617759 - RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 3; RPUSD3 - OMIM

 
 
* 617759

RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 3; RPUSD3


HGNC Approved Gene Symbol: RPUSD3

Cytogenetic location: 3p25.3     Genomic coordinates (GRCh38): 3:9,837,849-9,844,008 (from NCBI)


TEXT

▼ Description

Pseudouridylation is a common posttranscriptional modification in RNA that may function in RNA stability, RNA folding and/or secondary structure, and translational efficiency and fidelity. RPUSD3 is involved in pseudouridylation of mitochondrial DNA-encoded mRNAs (Antonicka et al., 2017).


▼ Gene Function

Using affinity purification-mass spectrometry and a proximity-biotinylation assay with human 143B cells, Antonicka et al. (2017) found that the RNA-binding protein FASTKD2 (612322) interacted with RNA granule proteins and with pseudouridine synthases, including TRUB2 (610727), RPUSD3, and RPUSD4 (617488). Knockdown of RPUSD3 via short interfering RNA reduced mitochondrial protein synthesis, but it did not affect assembly of mitochondrial ribosomes. RPUSD3 knockdown also reduced pseudouridylation in COX1 (MTCO1; 516030) and COXIII (MTCO3; 516050) mRNAs and reduced their translation, inhibiting assembly of complex IV.


▼ Mapping

Hartz (2017) mapped the RPUSD3 gene to chromosome 3p25.3 based on alignment of the RPUSD3 sequence (GenGank BC032135) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Antonicka, H., Choquet, K., Lin, Z.-Y., Gingras, A.-C., Kleinman, C. L., Shoubridge, E. A. A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. EMBO Rep. 18: 28-38, 2017. [PubMed: 27974379, related citations] [Full Text]

  2. Hartz, P. A. Personal Communication. Baltimore, Md. 11/2/2017.


Creation Date:
Patricia A. Hartz : 11/02/2017
Edit History:
mgross : 11/02/2017
mgross : 11/02/2017

* 617759

RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 3; RPUSD3


HGNC Approved Gene Symbol: RPUSD3

Cytogenetic location: 3p25.3     Genomic coordinates (GRCh38): 3:9,837,849-9,844,008 (from NCBI)


TEXT

Description

Pseudouridylation is a common posttranscriptional modification in RNA that may function in RNA stability, RNA folding and/or secondary structure, and translational efficiency and fidelity. RPUSD3 is involved in pseudouridylation of mitochondrial DNA-encoded mRNAs (Antonicka et al., 2017).


Gene Function

Using affinity purification-mass spectrometry and a proximity-biotinylation assay with human 143B cells, Antonicka et al. (2017) found that the RNA-binding protein FASTKD2 (612322) interacted with RNA granule proteins and with pseudouridine synthases, including TRUB2 (610727), RPUSD3, and RPUSD4 (617488). Knockdown of RPUSD3 via short interfering RNA reduced mitochondrial protein synthesis, but it did not affect assembly of mitochondrial ribosomes. RPUSD3 knockdown also reduced pseudouridylation in COX1 (MTCO1; 516030) and COXIII (MTCO3; 516050) mRNAs and reduced their translation, inhibiting assembly of complex IV.


Mapping

Hartz (2017) mapped the RPUSD3 gene to chromosome 3p25.3 based on alignment of the RPUSD3 sequence (GenGank BC032135) with the genomic sequence (GRCh38).

REFERENCES

  1. Antonicka, H., Choquet, K., Lin, Z.-Y., Gingras, A.-C., Kleinman, C. L., Shoubridge, E. A. A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. EMBO Rep. 18: 28-38, 2017. [PubMed: 27974379] [Full Text: https://doi.org/10.15252/embr.201643391]

  2. Hartz, P. A. Personal Communication. Baltimore, Md. 11/2/2017.


Creation Date:
Patricia A. Hartz : 11/02/2017

Edit History:
mgross : 11/02/2017
mgross : 11/02/2017



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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: May 14, 2024