Entry - *611980 - MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17 - OMIM

 
 
* 611980

MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17


HGNC Approved Gene Symbol: MRPS17

Cytogenetic location: 7p11.2     Genomic coordinates (GRCh38): 7:55,951,877-55,956,500 (from NCBI)


TEXT

▼ Description

Mitochondria have their own translation system for production of 13 proteins essential for oxidative phosphorylation. MRPS17 is 1 of more than 70 protein components of mitochondrial ribosomes that are encoded by the nuclear genome (Kenmochi et al., 2001).


▼ Cloning and Expression

By proteolytic digestion of whole bovine 28S subunits, followed by peptide analysis and EST database analysis, Koc et al. (2001) identified full-length human MRPS17. The deduced 130-amino acid MRPS17 protein has a calculated molecular mass of 14.5 kD. Removal of a predicted 20-amino acid N-terminal mitochondrial localization signal results in a mature 12.4-kD protein. Koc et al. (2001) identified MRPS17 orthologs in mouse, Drosophila, C. elegans, yeast, and E. coli. Highest conservation is in the N-terminal and central regions of MRPS17 orthologs. Mouse and human MRPS17 share 84.2% amino acid identity.


▼ Mapping

Using radiation hybrid analysis and analysis of an integrated BAC-STS map, Kenmochi et al. (2001) mapped the MRPS17 gene to chromosome 7p11-q11.21. By genomic sequence analysis, Zhang and Gerstein (2003) identified 9 MRPS17 pseudogenes scattered throughout the genome.


▼ REFERENCES

  1. Kenmochi, N., Suzuki, T., Uechi, T., Magoori, M., Kuniba, M., Higa, S., Watanabe, K., Tanaka, T. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Genomics 77: 65-70, 2001. [PubMed: 11543634, related citations] [Full Text]

  2. Koc, E. C., Burkhart, W., Blackburn, K., Moseley, A., Spremulli, L. L. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. J. Biol. Chem. 276: 19363-19374, 2001. [PubMed: 11279123, related citations] [Full Text]

  3. Zhang, Z., Gerstein, M. Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome. Genomics 81: 468-480, 2003. [PubMed: 12706105, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 4/21/2008
Edit History:
mgross : 04/22/2008

* 611980

MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17


HGNC Approved Gene Symbol: MRPS17

Cytogenetic location: 7p11.2     Genomic coordinates (GRCh38): 7:55,951,877-55,956,500 (from NCBI)


TEXT

Description

Mitochondria have their own translation system for production of 13 proteins essential for oxidative phosphorylation. MRPS17 is 1 of more than 70 protein components of mitochondrial ribosomes that are encoded by the nuclear genome (Kenmochi et al., 2001).


Cloning and Expression

By proteolytic digestion of whole bovine 28S subunits, followed by peptide analysis and EST database analysis, Koc et al. (2001) identified full-length human MRPS17. The deduced 130-amino acid MRPS17 protein has a calculated molecular mass of 14.5 kD. Removal of a predicted 20-amino acid N-terminal mitochondrial localization signal results in a mature 12.4-kD protein. Koc et al. (2001) identified MRPS17 orthologs in mouse, Drosophila, C. elegans, yeast, and E. coli. Highest conservation is in the N-terminal and central regions of MRPS17 orthologs. Mouse and human MRPS17 share 84.2% amino acid identity.


Mapping

Using radiation hybrid analysis and analysis of an integrated BAC-STS map, Kenmochi et al. (2001) mapped the MRPS17 gene to chromosome 7p11-q11.21. By genomic sequence analysis, Zhang and Gerstein (2003) identified 9 MRPS17 pseudogenes scattered throughout the genome.


REFERENCES

  1. Kenmochi, N., Suzuki, T., Uechi, T., Magoori, M., Kuniba, M., Higa, S., Watanabe, K., Tanaka, T. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Genomics 77: 65-70, 2001. [PubMed: 11543634] [Full Text: https://doi.org/10.1006/geno.2001.6622]

  2. Koc, E. C., Burkhart, W., Blackburn, K., Moseley, A., Spremulli, L. L. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. J. Biol. Chem. 276: 19363-19374, 2001. [PubMed: 11279123] [Full Text: https://doi.org/10.1074/jbc.M100727200]

  3. Zhang, Z., Gerstein, M. Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome. Genomics 81: 468-480, 2003. [PubMed: 12706105] [Full Text: https://doi.org/10.1016/s0888-7543(03)00004-1]


Creation Date:
Patricia A. Hartz : 4/21/2008

Edit History:
mgross : 04/22/2008



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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: June 11, 2024