EYA4

EYA4
Identifikatori
Aliasi	EYA4
Vanjski ID-jevi	OMIM: 603550 MGI: 1337104 HomoloGene: 3025 GeneCards: EYA4
Lokacija gena (čovjek)
Hrom.	Hromosom 6 (čovjek)
Kraj	133,532,128 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	23,350,786 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • phosphoprotein phosphatase activity; • hydrolase activity; • vezivanje iona metala; • protein tyrosine phosphatase activity;
Ćelijska komponenta	• citoplazma; • jedro;
Biološki proces	• multicellular organism development; • anatomical structure morphogenesis; • peptidyl-tyrosine dephosphorylation; • GO:0009373 regulation of transcription, DNA-templated; • sluh; • GO:0100026 Popravka DNK; • transcription, DNA-templated; • Vid; • cellular response to DNA damage stimulus; • GO:1900404 positive regulation of DNA repair; • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; • Ćelijska diferencijacija; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization; • GO:1903374 anatomical structure development;
	Izvori:Amigo / QuickGO
Ortolozi
	2070
	14051
	ENSG00000112319
	ENSMUSG00000010461
	O95677
	Q9Z191
NM_001301012; NM_001301013; NM_004100; NM_172103; NM_172104;
	NM_172105; NM_001370458; NM_001370459
	NM_010167; NM_001347372
NP_001287941; NP_001287942; NP_004091; NP_742101; NP_742103;
	NP_001357387; NP_001357388
	NP_001334301; NP_034297
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Nedostajući očni homolog 4 jest protein koji je kod ljudi kodiran genom EYA4.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 639 aminokiselina, а molekulska težina 69 505 Da.^[8]

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
MEDSQDLNEQ	SVKKTCTESD	VSQSQNSRSM	EMQDLASPHT	LVGGGDTPGS
SKLEKSNLSS	TSVTTNGTGG	ENMTVLNTAD	WLLSCNTPSS	ATMSLLAVKT
EPLNSSETTA	TTGDGALDTF	TGSVITSSGY	SPRSAHQYSP	QLYPSKPYPH
ILSTPAAQTM	SAYAGQTQYS	GMQQPAVYTA	YSQTGQPYSL	PTYDLGVMLP
AIKTESGLSQ	TQSPLQSGCL	SYSPGFSTPQ	PGQTPYSYQM	PGSSFAPSST
IYANNSVSNS	TNFSGSQQDY	PSYTAFGQNQ	YAQYYSASTY	GAYMTSNNTA
DGTPSSTSTY	QLQESLPGLT	NQPGEFDTMQ	SPSTPIKDLD	ERTCRSSGSK
SRGRGRKNNP	SPPPDSDLER	VFVWDLDETI	IVFHSLLTGS	YAQKYGKDPP
MAVTLGLRME	EMIFNLADTH	LFFNDLEECD	QVHIDDVSSD	DNGQDLSTYS
FATDGFHAAA	SSANLCLPTG	VRGGVDWMRK	LAFRYRRVKE	LYNTYKNNVG
GLLGPAKRDA	WLQLRAEIEG	LTDSWLTNAL	KSLSIISTRS	NCINVLVTTT
QLIPALAKVL	LYSLGGAFPI	ENIYSATKIG	KESCFERIMQ	RFGRKVVYVV
IGDGVEEEQA	AKKHNMPFWR	ISSHSDLLAL	HQALELEYL

Funkcija

Ovaj gen kodira proteinskog člana koji je odsutan u očima (EYA). Kodirani protein može djelovati kao aktivator transkripcije i biti važan za nastavak funkcije zrelog Cortijevog organa. Mutacije u ovom genu povezane su s postjezičnim, progresivnim, autosomno dominantnim gubitkom sluha pri gluhoći, autosomno dominantnim nesindromskim senzorinervnim poremećajem 10 lokusa. Za ovaj gen su identificirane tri varijante transkripta, koje kodiraju različite izoforme.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000112319 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000010461 - 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.
^ Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I (Mar 1999). "EYA4, a novel vertebrate gene related to Drosophila eyes absent". Hum Mol Genet. 8 (1): 11–23. doi:10.1093/hmg/8.1.11. PMID 9887327.
^ Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (Feb 2001). "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus". Hum Mol Genet. 10 (3): 195–200. doi:10.1093/hmg/10.3.195. PMID 11159937.
^ ^a ^b "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)".
^ "UniProt, O95677" (jezik: engleski). Pristupljeno 8. 10. 2021.

Dopunska literatura

O'Neill ME, Marietta J, Nishimura D, et al. (1996). "A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6". Hum. Mol. Genet. 5 (6): 853–856. doi:10.1093/hmg/5.6.853. PMID 8776603.
Schönberger J, Levy H, Grünig E, et al. (2000). "Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24". Circulation. 101 (15): 1812–1818. doi:10.1161/01.cir.101.15.1812. PMID 10769282.
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): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Pfister M, Tóth T, Thiele H, et al. (2004). "A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10". Mol. Med. 8 (10): 607–611. doi:10.1007/BF03402171. PMC 2039947. PMID 12477971.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–811. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Schönberger J, Wang L, Shin JT, et al. (2005). "Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss". Nat. Genet. 37 (4): 418–422. doi:10.1038/ng1527. PMID 15735644. S2CID 20760254.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–1292. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Makishima T, Madeo AC, Brewer CC, et al. (2007). "Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain". Am. J. Med. Genet. A. 143 (14): 1592–1598. doi:10.1002/ajmg.a.31793. PMID 17567890. S2CID 20167944.
Hildebrand MS, Coman D, Yang T, et al. (2007). "A novel splice site mutation in EYA4 causes DFNA10 hearing loss". Am. J. Med. Genet. A. 143 (14): 1599–1604. doi:10.1002/ajmg.a.31860. PMID 17568404. S2CID 40602803.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000112319 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000010461 - 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.

[pmid9887327-5] Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I (Mar 1999). "EYA4, a novel vertebrate gene related to Drosophila eyes absent". Hum Mol Genet. 8 (1): 11–23. doi:10.1093/hmg/8.1.11. PMID 9887327.

[pmid11159937-6] Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (Feb 2001). "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus". Hum Mol Genet. 10 (3): 195–200. doi:10.1093/hmg/10.3.195. PMID 11159937.

[entrez-7] "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)".

[UniProt-8] "UniProt, O95677" (jezik: engleski). Pristupljeno 8. 10. 2021.

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