HUMAN:EYA1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	EYA1
Protein Name(s)	Eyes absent homolog 1
External Links
UniProt	Q99502
EMBL	Y10260 AJ000097 AJ000098 AF467247 AC016465 AC022858 CH471068 BC121799
CCDS	CCDS34906.1 CCDS34907.1 CCDS47873.1
RefSeq	NP_000494.2 NP_001275503.1 NP_001275504.1 NP_742055.1 NP_742056.1 NP_742057.1 XP_006716499.1
UniGene	Hs.491997
ProteinModelPortal	Q99502
SMR	Q99502
BioGrid	108439
DIP	DIP-60446N
STRING	9606.ENSP00000342626
DEPOD	Q99502
PhosphoSite	Q99502
DMDM	3183005
PaxDb	Q99502
PRIDE	Q99502
Ensembl	ENST00000340726 ENST00000388740 ENST00000388742 ENST00000419131
GeneID	2138
KEGG	hsa:2138
UCSC	uc003xyr.4 uc003xys.4 uc003xyt.4
CTD	2138
GeneCards	GC08M072159
GeneReviews	EYA1
HGNC	HGNC:3519
MIM	113650 166780 601653 602588
neXtProt	NX_Q99502
Orphanet	107 52429 2792
PharmGKB	PA27931
eggNOG	NOG297494
GeneTree	ENSGT00390000008860
HOGENOM	HOG000293149
HOVERGEN	HBG002447
InParanoid	Q99502
KO	K15616
OMA	GQPYGIS
OrthoDB	EOG7DNNTZ
PhylomeDB	Q99502
TreeFam	TF319337
ChiTaRS	EYA1
GeneWiki	EYA1
GenomeRNAi	2138
NextBio	8639
PRO	PR:Q99502
Proteomes	UP000005640
Bgee	Q99502
CleanEx	HS_EYA1
ExpressionAtlas	Q99502
Genevestigator	Q99502
GO	GO:0005737 GO:0005634 GO:0046872 GO:0004725 GO:0003723 GO:0009653 GO:0035909 GO:0001658 GO:0034613 GO:0090103 GO:0006302 GO:0048704 GO:0000132 GO:0035088 GO:0016576 GO:0060487 GO:0001656 GO:0042474 GO:2001240 GO:0048665 GO:0071600 GO:0042473 GO:0003151 GO:0007389 GO:0060037 GO:0045739 GO:0050679 GO:0045747 GO:0072513 GO:0045944 GO:0016925 GO:0045664 GO:0010212 GO:0048752 GO:0007605 GO:0014706 GO:0006351
InterPro	IPR006545 IPR028472 IPR028471
PANTHER	PTHR10190 PTHR10190:SF11
TIGRFAMs	TIGR01658

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0045739	positive regulation of DNA repair	PMID:19234442^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0016925	protein sumoylation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P97767	P	Seeded From UniProt	complete
involved_in	GO:0016576	histone dephosphorylation	PMID:19234442^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0010212	response to ionizing radiation	PMID:19234442^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006302	double-strand break repair	PMID:19234442^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:19497856^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:19234442^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:19497856^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0004725	protein tyrosine phosphatase activity	PMID:19234442^[1]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109344 PANTHER:PTN000022641	P	Seeded From UniProt	complete
involved_in	GO:0048856	anatomical structure development	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109344 PANTHER:PTN000022641	P	Seeded From UniProt	complete
involved_in	GO:0045739	positive regulation of DNA repair	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000022641 UniProtKB:Q99502 UniProtKB:Q99504	P	Seeded From UniProt	complete
involved_in	GO:0016576	histone dephosphorylation	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000022641 UniProtKB:O00167 UniProtKB:Q99502 UniProtKB:Q99504	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0000320 MGI:MGI:109339 MGI:MGI:109341 MGI:MGI:109344 PANTHER:PTN000022641 RGD:1309932 UniProtKB:Q99502 UniProtKB:Q99504 WB:WBGene00001377	C	Seeded From UniProt	complete
enables	GO:0004725	protein tyrosine phosphatase activity	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0000320 MGI:MGI:109339 MGI:MGI:109341 MGI:MGI:109344 PANTHER:PTN000022641 UniProtKB:O00167 UniProtKB:Q99502 UniProtKB:Q99504	F	Seeded From UniProt	complete
part_of	GO:0016604	nuclear body	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0090103	cochlea morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0072513	positive regulation of secondary heart field cardioblast proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0071600	otic vesicle morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0071599	otic vesicle development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0060037	pharyngeal system development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0050679	positive regulation of epithelial cell proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0048856	anatomical structure development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0048752	semicircular canal morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0048704	embryonic skeletal system morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0048665	neuron fate specification	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0045664	regulation of neuron differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0045165	cell fate commitment	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0042474	middle ear morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0042473	outer ear morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0042472	inner ear morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0035909	aorta morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
part_of	GO:0032993	protein-DNA complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	C	Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	C	Seeded From UniProt	complete
involved_in	GO:0016925	protein sumoylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0014706	striated muscle tissue development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0009887	animal organ morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0007501	mesodermal cell fate specification	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0007389	pattern specification process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0006470	protein dephosphorylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	C	Seeded From UniProt	complete
enables	GO:0004725	protein tyrosine phosphatase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	F	Seeded From UniProt	complete
enables	GO:0003723	RNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	F	Seeded From UniProt	complete
involved_in	GO:0003151	outflow tract morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0001658	branching involved in ureteric bud morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0001657	ureteric bud development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
involved_in	GO:0001656	metanephros development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P97767 ensembl:ENSMUSP00000027066	P	Seeded From UniProt	complete
enables	GO:0004725	protein tyrosine phosphatase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028471 InterPro:IPR028472	F	Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006545	P	Seeded From UniProt	complete
involved_in	GO:0009887	animal organ morphogenesis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028471	P	Seeded From UniProt	complete
involved_in	GO:0035335	peptidyl-tyrosine dephosphorylation	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028471	P	Seeded From UniProt	complete
involved_in	GO:0042471	ear morphogenesis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028471	P	Seeded From UniProt	complete
enables	GO:0004721	phosphoprotein phosphatase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.1.3.16	F	Seeded From UniProt	complete
enables	GO:0004725	protein tyrosine phosphatase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.1.3.48	F	Seeded From UniProt	complete
involved_in	GO:0009653	anatomical structure morphogenesis	PMID:9020840^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	PMID:9020840^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-5683964	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0234	P	Seeded From UniProt	complete
involved_in	GO:0006974	cellular response to DNA damage stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0227	P	Seeded From UniProt	complete
enables	GO:0004721	phosphoprotein phosphatase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0904	F	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C	Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F	Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P	Seeded From UniProt	complete
involved_in	GO:0006325	chromatin organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0156	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Cook, PJ et al. (2009) Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. Nature 458 591-6 PubMed GONUTS page
↑ ^2.0 ^2.1 Patrick, AN et al. (2009) Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. J. Biol. Chem. 284 20781-90 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^4.0 ^4.1 Abdelhak, S et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat. Genet. 15 157-64 PubMed GONUTS page

[PMID:19234442-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Cook, PJ et al. (2009) Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. Nature 458 591-6 PubMed GONUTS page

[PMID:19497856-2] 2.0 ^2.1 Patrick, AN et al. (2009) Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. J. Biol. Chem. 284 20781-90 PubMed GONUTS page

[PMID:21873635-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9020840-4] 4.0 ^4.1 Abdelhak, S et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat. Genet. 15 157-64 PubMed GONUTS page

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HUMAN:EYA1

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