RPL10L

RPL10L
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4UG0, 4V6X
Identifikatori
Aliasi	RPL10L
Vanjski ID-jevi	MGI: 3647985 HomoloGene: 68830 GeneCards: RPL10L
Lokacija gena (čovjek)
Hrom.	Hromosom 14 (čovjek)
Kraj	46,651,781 bp
Lokacija gena (miš)
Hrom.	Hromosom 12 (miš)
Kraj	66,331,175 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• structural constituent of ribosome; • vezivanje sa RNK;
Ćelijska komponenta	• polysome; • cytosolic large ribosomal subunit; • ribozom; • intracellular anatomical structure; • membrana; • jedro; • Endoplazmatski retikulum; • citosol;
Biološki proces	• Biosinteza bjelančevina; • ribosomal large subunit assembly; • Spermatogeneza;
	Izvori:Amigo / QuickGO
Ortolozi
	140801
	238217
	ENSG00000165496
	ENSMUSG00000060499
	Q96L21
	P86048
	NM_080746
	NM_001162933
	NP_542784
	NP_001156405
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

L10-liki 60S ribosomski protein je protein koji je kod ljudi kodiran genom RPL10L. Gen RPL10L nalazi se na pricentromernoj polovini hromosoma 14.^[5]^[6]

Objevljene su genetičke analize, korištenjem cijelog egzoma i Sangerovog sekvenciranja za dva brata s teškom oligospermijom. Učinci identificirane uzročne mutacije kandidata ispitivani su in silico i in vitro. Skrining sekvenciranja cijelog egzoma za kandidatsku mutaciju proveden je u 414 pacijenata s oligo–/azoospermijom i 223 plodne osobe. Homozigotna misens varijanta (NM_080746: c.A257C: p.H86P) u RPL10L identificirana je kod dva pogođena brata i pokazalo se da se kosegregira s teškim fenotipom oligozoospermije. Mutacija nije bila prisutna u javnim bazama podataka, uključujući projekt 1000 genoma i konzorcij za agregaciju Exome. Sve ispitivane baze podataka predviđale su da je mutacija štetna, u skladu s činjenicom da je smanjila nivo proteina in vitro. Naknadnim skriningom mutacija identifikovane su tri dodatne heterozigotne RPL10L mutacije u tri od 414 subjekata sa oligo-/azoospermijom, ali bez RPL10L mutacija među 223 plodna subjekta.

Dobijeni nalazi ukazuju na to da je RPL10L novi gen kandidat u patogenezi neplodnosti muškog faktora čovjeka i teške oligozoospermije.^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 214 aminokiselina, a molekulska težina 24.519 Da.^[8]

10	20	30	40	50
MGRRPARCYR	YCKNKPYPKS	RFCRGVPDAK	IRIFDLGRKK	AKVDEFPLGG
HMVSDEYEQL	SSEALEAARI	CANKYMVKSC	GRDGFHMRVR	LHPFHVIRIN
KMLSCAGADR	LQTGMRGAFG	KPQGTVARVH	IGQVIMSIRT	KLQNEEHVIE
ALRRAKFKFP	GRQKIHISKK	WGFTKFNADE	FEDMVAKKCL	IPDGCGVKYV
PSHGPLDKWR	VLHS

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

Funkcija

Ovaj gen kodira protein sa sličnošću sekvence sa ribosomnim proteinom L10 (RPL10). Još nije poznato je li kodirani protein funkcionalan ribosomski protein ili je razvio funkciju koja je neovisna o ribosomu. Ovaj gen je bezintronski.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165496 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000060499 - 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.
^ Balasubramanian S, Zheng D, Liu YJ, Fang G, Frankish A, Carriero N, Robilotto R, Cayting P, Gerstein M (maj 2009). "Comparative analysis of processed ribosomal protein pseudogenes in four mammalian genomes". Genome Biology. 10 (1): R2. doi:10.1186/gb-2009-10-1-r2. PMC 2687790. PMID 19123937.
^ ^a ^b "Entrez Gene: RPL10L ribosomal protein L10-like".
^ Chaofeng Tu 1, Lanlan Meng 2, Hongchuan Nie 2, Shimin Yuan 2, Weili Wang 3, Juan Du 4, Guangxiu Lu 5, Ge Lin 4, Yue-Qiu Tan 6 (2019): A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia. Fertil Steril, 113(3):561-568, PMID 32111475, DOI: 10.1016/j.fertnstert.2019.10.029
^ "UniProt, Q96L21". Pristupljeno 28. 7. 2021.

Dopunska kiteratura

Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (januar 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (oktobar 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Uechi T, Maeda N, Tanaka T, Kenmochi N (decembar 2002). "Functional second genes generated by retrotransposition of the X-linked ribosomal protein genes". Nucleic Acids Research. 30 (24): 5369–75. doi:10.1093/nar/gkf696. PMC 140079. PMID 12490704.
Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (septembar 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Hartley JL, Temple GF, Brasch MA (novembar 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.

Vanjski linkovi

Q96L21

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165496 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000060499 - 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.

[pmid19123937-5] Balasubramanian S, Zheng D, Liu YJ, Fang G, Frankish A, Carriero N, Robilotto R, Cayting P, Gerstein M (maj 2009). "Comparative analysis of processed ribosomal protein pseudogenes in four mammalian genomes". Genome Biology. 10 (1): R2. doi:10.1186/gb-2009-10-1-r2. PMC 2687790. PMID 19123937.

[entrez-6] "Entrez Gene: RPL10L ribosomal protein L10-like".

[7] Chaofeng Tu 1, Lanlan Meng 2, Hongchuan Nie 2, Shimin Yuan 2, Weili Wang 3, Juan Du 4, Guangxiu Lu 5, Ge Lin 4, Yue-Qiu Tan 6 (2019): A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia. Fertil Steril, 113(3):561-568, PMID 32111475, DOI: 10.1016/j.fertnstert.2019.10.029

[UniProt-8] "UniProt, Q96L21". Pristupljeno 28. 7. 2021.

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