RPS15A

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)
Kraj	18,790,383 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	117,715,411 bp
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
	6210
	267019
	ENSG00000134419
	ENSMUSG00000008683
	P62244
	P62245
	NM_001030009; NM_001019
	NM_170669
	NP_001010; NP_001025180
	NP_733769
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134419 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000008683 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: RPS15A ribosomal protein S15a".
^ 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
^ "UniProt, P62244". Pristupljeno 9. 7. 2021.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134419 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[pmid9582194-5] 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.

[entrez-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

[UniProt-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

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