RPS15A

40S-ribosomni protein S15a je protein koji je kod ljudi kodiran genom RPS15A.^[5][6] Izvedeni ribosomski protein 15a (RPS15A) ima 130 aminokiselina (SWISS-PROT P62244). Analizom hibridnih somatskih ćelija i analizom hibridne radijacije zračenja, Kenmochi et al. (1998) mapirali su ljudski gen RPS15A na poziciji 16p hromosoma 16.^[7]

RPS15A
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 4UG0, 4V6X, 5A2Q, 5AJ0, 4KZY, 3J7R, 4D61, 4KZX, 4D5L, 4V5Z, 5FLX, 4UJD, 3J7P, 4KZZ, 4UJE, 4UJC
Identifikatori
Aliasi	RPS15A
Vanjski ID-jevi	OMIM: 603674 MGI: 2389091 HomoloGene: 128982 GeneCards: RPS15A
Lokacija gena (čovjek) Hrom. Hromosom 16 (čovjek)[1] Bend 16p12.3 Početak 18,781,295 bp[1] Kraj 18,790,383 bp[1]
Lokacija gena (miš) Hrom. Hromosom 7 (miš)[2] Bend 7|7 F1 Početak 117,703,595 bp[2] Kraj 117,715,411 bp[2]
Ontologija gena Molekularna funkcija • structural constituent of ribosome • GO:0001948, GO:0016582 vezivanje za proteine • vezivanje sa RNK Ćelijska komponenta • citoplazma • citosol • ribozom • membrana • Egzosom • mitohondrija • nukleoplazma • GO:0005578 Vanćelijski matriks • cytosolic small ribosomal subunit Biološki proces • viral transcription • response to virus • SRP-dependent cotranslational protein targeting to membrane • positive regulation of cell cycle • positive regulation of cell population proliferation • translational initiation • Nonsens-posredovano propadanje iRNK • rRNA processing • Biosinteza bjelančevina Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	6210	267019
Ensembl	ENSG00000134419	ENSMUSG00000008683
UniProt	P62244	P62245
RefSeq (mRNK)	NM_001030009 NM_001019	NM_170669
RefSeq (bjelančevina)	NP_001010 NP_001025180	NP_733769
Lokacija (UCSC)	Chr 16: 18.78 – 18.79 Mb	Chr 7: 117.7 – 117.72 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Ribosomi, organele koje kataliziraju sintezu proteina sastoje se od male 40S i velika 60S podjedinice. Zajedno se sastoje od četiri tipa RNK i približno 80 strukturno različitih proteina. Ovaj gen kodira ribosomski protein koji je komponenta 40S podjedinice. Protein pripada porodici S8P ribosomskih proteina. Nalazi se u citoplazmi. Kao što je tipsko za gene koji kodiraju ribosomske proteine, postoji više obrađenih pseudogena ovog gena raspršenih širom genoma.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 130 aminokiselina, a molekulska težina 14.840 Da.^[8].

10		20		30		40		50
MVRMNVLADA		LKSINNAEKR		GKRQVLIRPC		SKVIVRFLTV		MMKHGYIGEF
EIIDDHRAGK		IVVNLTGRLN		KCGVISPRFD		VQLKDLEKWQ		NNLLPSRQFG
FIVLTTSAGI		MDHEEARRKH		TGGKILGFFF

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Molekulska genetika

Kod majke i dvije kćeri s Diamond-Blackfan anemijom-20 (DBA20), Ikeda et al. (2017) identificirali su heterozigotnu mutaciju prerade u genu RPS15A, koja je pokazala da izaziva gubitak funkcije i haploinsuficijenciju. Eksprimiranje mutacije u ćelijama ljudskog eritroida K562 pokazalo je da potiskuje proliferaciju ćelija i uzrokuje abnormalne nivoe nekoliko pre-rRNK podjedinica, što ukazuje na poremećenu preradu RNK.

Životinjski model

Ikeda et al. (2017) otkrili su da je morfolinsko mijenjanje gena rps15a u embrionima zebrica rezultiralo abnormalnostima, uključujući tanku žumanjčanu vrećicu, savijeni rep i značajno smanjenu proizvodnju eritrocita. Mutirani fenotip mogao bi se spasiti ekspresijom divljeg tipa rps15a.^[9]

Reference

1. GRCh38: Ensembl release 89: ENSG00000134419 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000008683 - Ensembl, maj 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC (Aug 1998). "A map of 75 human ribosomal protein genes". Genome Res. 8 (5): 509–23. doi:10.1101/gr.8.5.509. PMID 9582194.
6. "Entrez Gene: RPS15A ribosomal protein S15a".
7. Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. A map of 75 human ribosomal protein genes. Genome Res. 8: 509-523, 1998. PubMed: 9582194
8. "UniProt, P62244". Pristupljeno 9. 7. 2021.
9. Ikeda, F., Yoshida, K., Toki, T., Uechi, T., Ishida, S., Nakajima, Y., Sasahara, Y., Okuno, Y., Kanezaki, R., Terui, K., Kamio, T., Kobayashi, A., and 14 others. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. (Letter) Haematologica 102: e93-e96, 2017. Note: Electronic Article. PubMed: 27909223

Dopunska literatura

• Wool IG, Chan YL, Glück A (1996). "Structure and evolution of mammalian ribosomal proteins". Biochem. Cell Biol. 73 (11–12): 933–47. doi:10.1139/o95-101. PMID 8722009.
• Chan YL, Olvera J, Paz V, Wool IG (1994). "The primary structure of rat ribosomal protein S15a". Biochem. Biophys. Res. Commun. 200 (3): 1498–504. doi:10.1006/bbrc.1994.1620. PMID 8185605.
• Vladimirov SN, Ivanov AV, Karpova GG, et al. (1996). "Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry". Eur. J. Biochem. 239 (1): 144–9. doi:10.1111/j.1432-1033.1996.0144u.x. PMID 8706699.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Yu Y, Ji H, Doudna JA, Leary JA (2005). "Mass spectrometric analysis of the human 40S ribosomal subunit: native and HCV IRES-bound complexes". Protein Sci. 14 (6): 1438–46. doi:10.1110/ps.041293005. PMC 2253395. PMID 15883184.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.