EYA1

EYA1
Identifikatori
Aliasi	EYA1
Vanjski ID-jevi	OMIM: 601653 MGI: 109344 HomoloGene: 74943 GeneCards: EYA1
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	71,592,025 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	14,380,459 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• phosphoprotein phosphatase activity; • vezivanje iona metala; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje sa RNK; • protein tyrosine phosphatase activity; • hydrolase activity;
Ćelijska komponenta	• citoplazma; • protein-DNA complex; • jedro; • nukleoplazma; • nuclear body; • GO:0009327 makromolekulani kompleks;
Biološki proces	• pattern specification process; • response to ionizing radiation; • regulation of neuron differentiation; • embryonic skeletal system morphogenesis; • ureteric bud development; • cell fate commitment; • striated muscle tissue development; • semicircular canal morphogenesis; • GO:0009373 regulation of transcription, DNA-templated; • GO:1903374 anatomical structure development; • positive regulation of epithelial cell proliferation; • neuron fate specification; • anatomical structure morphogenesis; • GO:1900404 positive regulation of DNA repair; • GO:0016576 protein dephosphorylation; • outflow tract morphogenesis; • otic vesicle morphogenesis; • outer ear morphogenesis; • sluh; • aorta morphogenesis; • protein sumoylation; • transcription, DNA-templated; • otic vesicle development; • cellular response to DNA damage stimulus; • multicellular organism development; • ear morphogenesis; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • branching involved in ureteric bud morphogenesis; • cochlea morphogenesis; • inner ear morphogenesis; • middle ear morphogenesis; • animal organ morphogenesis; • positive regulation of secondary heart field cardioblast proliferation; • peptidyl-tyrosine dephosphorylation; • metanephros development; • mesodermal cell fate specification; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • pharyngeal system development; • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; • double-strand break repair; • GO:0100026 Popravka DNK; • Ćelijska diferencijacija; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization;
	Izvori:Amigo / QuickGO
Ortolozi
	2138
	14048
	ENSG00000104313
	ENSMUSG00000025932
	Q99502
	P97767
NM_000503; NM_001288574; NM_001288575; NM_172058; NM_172059;
	NM_172060; NM_001370333; NM_001370334; NM_001370335; NM_001370336
	NM_001252192; NM_010164; NM_001310459
NP_000494; NP_001275503; NP_001275504; NP_742055; NP_742056;
	NP_001357262; NP_001357263; NP_001357264; NP_001357265
NP_001239121; NP_001297388; NP_034294; NP_001389588; NP_001389589;
	NP_001389590; NP_001389591
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Homolog 1 nedostatka očiju je protein koji je kod ljudi kodiran genom EYA1.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 952 aminokiseline, а molekulska težina 64.593 Da.^[7]

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
MEMQDLTSPH	SRLSGSSESP	SGPKLGNSHI	NSNSMTPNGT	EVKTEPMSSS
ETASTTADGS	LNNFSGSAIG	SSSFSPRPTH	QFSPPQIYPS	NRPYPHILPT
PSSQTMAAYG	QTQFTTGMQQ	ATAYATYPQP	GQPYGISSYG	ALWAGIKTEG
GLSQSQSPGQ	TGFLSYGTSF	STPQPGQAPY	SYQMQGSSFT	TSSGIYTGNN
SLTNSSGFNS	SQQDYPSYPS	FGQGQYAQYY	NSSPYPAHYM	TSSNTSPTTP
STNATYQLQE	PPSGITSQAV	TDPTAEYSTI	HSPSTPIKDS	DSDRLRRGSD
GKSRGRGRRN	NNPSPPPDSD	LERVFIWDLD	ETIIVFHSLL	TGSYANRYGR
DPPTSVSLGL	RMEEMIFNLA	DTHLFFNDLE	ECDQVHIDDV	SSDDNGQDLS
TYNFGTDGFP	AAATSANLCL	ATGVRGGVDW	MRKLAFRYRR	VKEIYNTYKN
NVGGLLGPAK	REAWLQLRAE	IEALTDSWLT	LALKALSLIH	SRTNCVNILV
TTTQLIPALA	KVLLYGLGIV	FPIENIYSAT	KIGKESCFER	IIQRFGRKVV
YVVIGDGVEE	EQGAKKHAMP	FWRISSHSDL	MALHHALELE	YL

Funkcija

Ovaj gen kodira člana proteina nedostatka očiju (EYA). Kodirani protein može imati ulogu u razvoju bubrega, granatih lukova, oka i uha. Mutacije ovog gena povezane su sa sindromom granulootobubrežne displazije, granuloušnim sindromom i sporadičnim slučajevima kongenitalnog katarakta i anomalija prednjeg dijela oka. Sličan protein kod miševa može djelovati kao aktivator transkripcije. Za ovaj gen identificirane su četiri varijante transkripta, koje kodiraju tri različite izoforme.^[6]

Interakcije

Pokazalo se da EYA1 stupa u interakciju sa SIX1.^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104313 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025932 - 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.
^ Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (Mar 1997). "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nat Genet. 15 (2): 157–64. doi:10.1038/ng0297-157. PMID 9020840. S2CID 28527865.
^ ^a ^b "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)".
^ "UniProt, Q99502" (jezik: engleski). Pristupljeno 17. 9. 2021.
^ Buller, C; Xu X; Marquis V; Schwanke R; Xu P X (Nov 2001). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. England. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. ISSN 0964-6906. PMID 11734542.

Dopunska literatura

Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990). "Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements". Proc. Natl. Acad. Sci. U.S.A. 87 (4): 1551–5. Bibcode:1990PNAS...87.1551S. doi:10.1073/pnas.87.4.1551. PMC 53513. PMID 2154751.
Vincent C, Kalatzis V, Abdelhak S, et al. (1998). "BOR and BO syndromes are allelic defects of EYA1". Eur. J. Hum. Genet. 5 (4): 242–6. doi:10.1159/000484770. PMID 9359046.
Abdelhak S, Kalatzis V, Heilig R, et al. (1998). "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1". Hum. Mol. Genet. 6 (13): 2247–55. doi:10.1093/hmg/6.13.2247. PMID 9361030.
Pignoni F, Hu B, Zavitz KH, et al. (1998). "The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development". Cell. 91 (7): 881–91. doi:10.1016/S0092-8674(00)80480-8. PMID 9428512. S2CID 269908.
Kumar S, Kimberling WJ, Weston MD, et al. (1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome". Hum. Mutat. 11 (6): 443–9. doi:10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S. PMID 9603436.
Kalatzis V, Sahly I, El-Amraoui A, Petit C (1999). "Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome". Dev. Dyn. 213 (4): 486–99. doi:10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L. PMID 9853969.
Kumar S, Deffenbacher K, Cremers CW, et al. (1999). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing". Genet. Test. 1 (4): 243–51. doi:10.1089/gte.1997.1.243. PMID 10464653.
Ohto H, Kamada S, Tago K, et al. (1999). "Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya". Mol. Cell. Biol. 19 (10): 6815–24. doi:10.1128/mcb.19.10.6815. PMC 84678. PMID 10490620.
Azuma N, Hirakiyama A, Inoue T, et al. (2000). "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies". Hum. Mol. Genet. 9 (3): 363–6. doi:10.1093/hmg/9.3.363. PMID 10655545.
Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M (2000). "Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes". J. Med. Genet. 37 (8): 623–7. doi:10.1136/jmg.37.8.623. PMC 1734672. PMID 10991693.
Rickard S, Parker M, van't Hoff W, et al. (2001). "Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM". Hum. Genet. 108 (5): 398–403. doi:10.1007/s004390100495. PMID 11409867. S2CID 8451069.
Namba A, Abe S, Shinkawa H, et al. (2001). "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis". J. Hum. Genet. 46 (9): 518–21. doi:10.1007/s100380170033. PMID 11558900.
Fukuda S, Kuroda T, Chida E, et al. (2002). "A family affected by branchio-oto syndrome with EYA1 mutations". Auris Nasus Larynx. 28 Suppl: S7–11. doi:10.1016/s0385-8146(01)00082-7. PMID 11683347.
Buller C, Xu X, Marquis V, et al. (2002). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. PMID 11734542.
Ozaki H, Watanabe Y, Ikeda K, Kawakami K (2002). "Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins". J. Hum. Genet. 47 (3): 107–16. doi:10.1007/s100380200011. PMID 11950062.
Xu PX, Zheng W, Laclef C, et al. (2002). "Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid". Development. 129 (13): 3033–44. doi:10.1242/dev.129.13.3033. PMC 3873877. PMID 12070080.
Vervoort VS, Smith RJ, O'Brien J, et al. (2003). "Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome". Eur. J. Hum. Genet. 10 (11): 757–66. doi:10.1038/sj.ejhg.5200877. PMID 12404110.
Fougerousse F, Durand M, Lopez S, et al. (2003). "Six and Eya expression during human somitogenesis and MyoD gene family activation". J. Muscle Res. Cell. Motil. 23 (3): 255–64. doi:10.1023/A:1020990825644. PMID 12500905. S2CID 42497614.
Yashima T, Noguchi Y, Ishikawa K, et al. (2003). "Mutation of the EYA1 gene in patients with branchio-oto syndrome". Acta Otolaryngol. 123 (2): 279–82. doi:10.1080/0036554021000028103. PMID 12701758. S2CID 24399383.

Vanjski linkovi

Šablon:Protein-tirozin fosfataze

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104313 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025932 - 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.

[pmid9020840-5] Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (Mar 1997). "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nat Genet. 15 (2): 157–64. doi:10.1038/ng0297-157. PMID 9020840. S2CID 28527865.

[entrez-6] "Entrez Gene: EYA1 eyes absent homolog 1 (Drosophila)".

[UniProt-7] "UniProt, Q99502" (jezik: engleski). Pristupljeno 17. 9. 2021.

[pmid11734542-8] Buller, C; Xu X; Marquis V; Schwanke R; Xu P X (Nov 2001). "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Hum. Mol. Genet. England. 10 (24): 2775–81. doi:10.1093/hmg/10.24.2775. ISSN 0964-6906. PMID 11734542.

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