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LARS2
Identifikatori
Aliasi	LARS2
Vanjski ID-jevi	OMIM: 604544 MGI: 2142973 HomoloGene: 6526 GeneCards: LARS2
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	45,554,726 bp
Lokacija gena (miš)
Hrom.	Hromosom 9 (miš)
Kraj	123,291,731 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aminoacyl-tRNA ligase activity; • nucleotide binding; • ligase activity; • ATP binding; • aminoacyl-tRNA editing activity; • leucine-tRNA ligase activity;
Ćelijska komponenta	• mitochondrial matrix; • mitohondrija;
Biološki proces	• tRNA aminoacylation for protein translation; • Biosinteza bjelančevina; • leucyl-tRNA aminoacylation; • mitochondrial translation; • aminoacyl-tRNA metabolism involved in translational fidelity;
	Izvori:Amigo / QuickGO
Ortolozi
	23395
	102436
	ENSG00000011376
	ENSMUSG00000035202
	Q15031
	Q8VDC0
	NM_015340; NM_001368263
	NM_153168; NM_001348167; NM_001348168
	NP_056155; NP_001355192
	NP_694808; NP_001335096; NP_001335097
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Vjerovatna mitohondrijska leucl-tRNK sintetaza jest enzim koji je kod ljudi kodiran genom LARS2 sa hromosoma 3.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 903 aminokiseline, а molekulska težina 101.976 Da.^[6]

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

10	20	30	40	50
MASVWQRLGF	YASLLKRQLN	GGPDVIKWER	RVIPGCTRSI	YSATGKWTKE
YTLQTRKDVE	KWWHQRIKEQ	ASKISEADKS	KPKFYVLSMF	PYPSGKLHMG
HVRVYTISDT	IARFQKMRGM	QVINPMGWDA	FGLPAENAAV	ERNLHPQSWT
QSNIKHMRKQ	LDRLGLCFSW	DREITTCLPD	YYKWTQYLFI	KLYEAGLAYQ
KEALVNWDPV	DQTVLANEQV	DEHGCSWRSG	AKVEQKYLRQ	WFIKTTAYAK
AMQDALADLP	EWYGIKGMQA	HWIGDCVGCH	LDFTLKVHGQ	ATGEKLTAYT
ATPEAIYGTS	HVAISPSHRL	LHGHSSLKEA	LRMALVPGKD	CLTPVMAVNM
LTQQEVPVVI	LAKADLEGSL	DSKIGIPSTS	SEDTILAQTL	GLAYSEVIET
LPDGTERLSS	SAEFTGMTRQ	DAFLALTQKA	RGKRVGGDVT	SDKLKDWLIS
RQRYWGTPIP	IVHCPVCGPT	PVPLEDLPVT	LPNIASFTGK	GGPPLAMASE
WVNCSCPRCK	GAAKRETDTM	DTFVDSAWYY	FRYTDPHNPH	SPFNTAVADY
WMPVDLYIGG	KEHAVMHLFY	ARFFSHFCHD	QKMVKHREPF	HKLLAQGLIK
GQTFRLPSGQ	YLQREEVDLT	GSVPVHAKTK	EKLEVTWEKM	SKSKHNGVDP
EEVVEQYGID	TIRLYILFAA	PPEKDILWDV	KTDALPGVLR	WQQRLWTLTT
RFIEARASGK	SPQPQLLSNK	EKAEARKLWE	YKNSVISQVT	THFTEDFSLN
SAISQLMGLS	NALSQASQSV	ILHSPEFEDA	LCALMVMAAP	LAPHVTSEIW
AGLALVPRKL	CAHYTWDASV	LLQAWPAVDP	EFLQQPEVVQ	MAVLINNKAC
GKIPVPQQVA	RDQDKVHEFV	LQSELGVRLL	QGRSIKKSFL	SPRTALINFL
VQD

Funkcija

Ovaj gen kodira klasa 1 aminoacil-tRNA sintetaze, mitohondrijjske leucil-tRNK sintetaze. Svaka od dvadeset aminoacil-tRNA sintetaza katalizira aminoacilaciju specifične tRNK ili tRNK izoakceptirajuće porodice sa srodnom amino kiselinom.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000011376 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035202 - 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.
^ Sohm B, Sissler M, Park H, King MP, Florentz C (maj 2004). "Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase". J Mol Biol. 339 (1): 17–29. doi:10.1016/j.jmb.2004.03.066. PMID 15123417.
^ "UniProt, Q15031" (jezik: engleski). Pristupljeno 4. 11. 2021.
^ "Entrez Gene: LARS2 leucyl-tRNA synthetase 2, mitochondrial".

Dopunska literatura

Olsson P, Wennberg AL (1992). "[Midwife and research. Conference report]". Jordemodern. 104 (11): 408–9, 404. PMID 1684970.
Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1". DNA Res. 1 (1): 27–35. doi:10.1093/dnares/1.1.27. PMID 7584026.
Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement)". DNA Res. 1 (1): 47–56. doi:10.1093/dnares/1.1.47. PMID 7584028.
Szeles A, Yang Y, Sandlund AM, et al. (1998). "Human/mouse microcell hybrid based elimination test reduces the putative tumor suppressor region at 3p21.3 to 1.6 cM". Genes Chromosomes Cancer. 20 (4): 329–36. doi:10.1002/(SICI)1098-2264(199712)20:4<329::AID-GCC3>3.0.CO;2-3. PMID 9408748.
Kiss H, Kedra D, Yang Y, et al. (2000). "A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3". Hum. Genet. 105 (6): 552–9. doi:10.1007/s004390051144. PMID 10647888.
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.
Yao YN, Wang L, Wu XF, Wang ED (2004). "The processing of human mitochondrial leucyl-tRNA synthetase in the insect cells". FEBS Lett. 534 (1–3): 139–42. doi:10.1016/S0014-5793(02)03833-4. PMID 12527375. S2CID 21901003.
Park H, Davidson E, King MP (2003). "The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation". Biochemistry. 42 (4): 958–64. doi:10.1021/bi026882r. PMID 12549915.
Yao YN, Wang L, Wu XF, Wang ED (2004). "Human mitochondrial leucyl-tRNA synthetase with high activity produced from Escherichia coli". Protein Expr. Purif. 30 (1): 112–6. doi:10.1016/S1046-5928(03)00097-4. PMID 12821328.
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.
Munakata K, Iwamoto K, Bundo M, Kato T (2005). "Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia". Biol. Psychiatry. 57 (5): 525–32. doi:10.1016/j.biopsych.2004.11.041. PMID 15737668. S2CID 28499960.
't Hart LM, Hansen T, Rietveld I, et al. (2005). "Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene". Diabetes. 54 (6): 1892–5. doi:10.2337/diabetes.54.6.1892. PMID 15919814.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000011376 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035202 - 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.

[pmid15123417-5] Sohm B, Sissler M, Park H, King MP, Florentz C (maj 2004). "Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase". J Mol Biol. 339 (1): 17–29. doi:10.1016/j.jmb.2004.03.066. PMID 15123417.

[UniProt-6] "UniProt, Q15031" (jezik: engleski). Pristupljeno 4. 11. 2021.

[entrez-7] "Entrez Gene: LARS2 leucyl-tRNA synthetase 2, mitochondrial".

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