40S ribosomal protein S29: Difference between revisions

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== Clinical significance ==
== Clinical significance ==


Mutations in RPS29 cause {{SWL|type=mutation_results_in|target=Diamond-Blackfan anemia|label=Diamond-Blackfan anemia}}.<ref>{{cite journal | vauthors = Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA | title = Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families | journal = Blood | volume = 124 | issue = 1 | pages = 24–32 | date = July 2014 | pmid = 24829207 | doi = 10.1182/blood-2013-11-540278 }}</ref>
Mutations in RPS29 cause {{SWL|type=mutation_results_in|target=Diamond-Blackfan anemia|label=Diamond-Blackfan anemia}}.<ref>{{cite journal | vauthors = Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA | title = Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families | journal = Blood | volume = 124 | issue = 1 | pages = 24–32 | date = July 2014 | pmid = 24829207 | doi = 10.1182/blood-2013-11-540278 | pmc = 4125351 }}</ref>


== References ==
== References ==
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== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Wool IG, Chan YL, Glück A | title = Structure and evolution of mammalian ribosomal proteins | journal = Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire | volume = 73 | issue = 11-12 | pages = 933–47 | year = 1996 | pmid = 8722009 | doi = 10.1139/o95-101 }}
* {{cite journal | vauthors = Wool IG, Chan YL, Glück A | title = Structure and evolution of mammalian ribosomal proteins | journal = Biochemistry and Cell Biology | volume = 73 | issue = 11-12 | pages = 933–47 | year = 1996 | pmid = 8722009 | doi = 10.1139/o95-101 }}
* {{cite journal | vauthors = Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA, Thiede B, Wittmann-Liebold B, Otto A | title = Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry | journal = European Journal of Biochemistry | volume = 239 | issue = 1 | pages = 144–9 | date = July 1996 | pmid = 8706699 | doi = 10.1111/j.1432-1033.1996.0144u.x }}
* {{cite journal | vauthors = Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA, Thiede B, Wittmann-Liebold B, Otto A | title = Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry | journal = European Journal of Biochemistry | volume = 239 | issue = 1 | pages = 144–9 | date = July 1996 | pmid = 8706699 | doi = 10.1111/j.1432-1033.1996.0144u.x }}
* {{cite journal | vauthors = Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC | title = A map of 75 human ribosomal protein genes | journal = Genome Research | volume = 8 | issue = 5 | pages = 509–23 | date = May 1998 | pmid = 9582194 | doi = 10.1101/gr.8.5.509 }}
* {{cite journal | vauthors = Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC | title = A map of 75 human ribosomal protein genes | journal = Genome Research | volume = 8 | issue = 5 | pages = 509–23 | date = May 1998 | pmid = 9582194 | doi = 10.1101/gr.8.5.509 }}
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* {{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}
* {{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}
{{refend}}
{{refend}}


{{GeneticTranslation}}
{{GeneticTranslation}}
{{Ribosome subunits}}
{{Ribosome subunits}}
[[Category:Ribosomal proteins]]


{{protein-stub}}
{{protein-stub}}
[[Category:Ribosomal proteins]]

Revision as of 16:43, 28 October 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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RefSeq (protein)

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Wikidata
View/Edit Human

40S ribosomal protein S29 is a protein that in humans is encoded by the RPS29 gene.[1][2][3]

Function

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.[3]

Clinical significance

Mutations in RPS29 cause Diamond-Blackfan anemia .[4]

References

  1. ↑ Kondoh N, Noda M, Fisher RJ, Schweinfest CW, Papas TS, Kondoh A, Samuel KP, Oikawa T (August 1996). "The S29 ribosomal protein increases tumor suppressor activity of K rev-1 gene on v-K ras-transformed NIH3T3 cells". Biochimica et Biophysica Acta. 1313 (1): 41–6. doi:10.1016/0167-4889(96)00052-3. PMID 8781548.
  2. ↑ Frigerio JM, Dagorn JC, Iovanna JL (May 1995). "Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs". Biochimica et Biophysica Acta. 1262 (1): 64–8. doi:10.1016/0167-4781(95)00045-i. PMID 7772601.
  3. ↑ 3.0 3.1 "Entrez Gene: RPS29 ribosomal protein S29".
  4. ↑ Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA (July 2014). "Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families". Blood. 124 (1): 24–32. doi:10.1182/blood-2013-11-540278. PMC 4125351. PMID 24829207.

Further reading


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