• Gene id: 2138

Gene Summary

• Gene Symbol: EYA1   Gene   UCSC   Ensembl
• Aliases: BOP, BOR, BOS1, OFC1
• Gene name: EYA transcriptional coactivator and phosphatase 1
• Alternate names: eyes absent homolog 1,
• Gene location: 8q13.3 (71548103: 71197432)     Exons: 25     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, bra

Protein Summary

• Protein general information: Q99502  
  • Name: Eyes absent homolog 1 (EC 3.1.3.16) (EC 3.1.3.48)
  • Length: 592  
  • Mass: 64593
  • Tissue specificity: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.
• Sequence:

  MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFS
  PRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEG
  GLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQ
  YAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
  GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLF
  FNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKN
  NVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIEN
  IYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL

• Structural information:
  • Interpro: IPR006545  IPR042577  IPR038102  IPR028472  IPR028471  
  • CDD: cd02601
  • DIP: 60446
  • STRING: ENSP00000342626
• Other Databases: GeneCards:  EYA1  Malacards:  EYA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004725	protein tyrosine phosphatase activity	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0016576	histone dephosphorylation	IBA	biological process
GO:0045739	positive regulation of DNA repair	IBA	biological process
GO:0048856	anatomical structure development	IBA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA	biological process
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0016576	histone dephosphorylation	IDA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0016925	protein sumoylation	ISS	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0042471	ear morphogenesis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007605	sensory perception of sound	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0032993	protein-DNA complex	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0014706	striated muscle tissue development	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0007501	mesodermal cell fate specification	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0001657	ureteric bud development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0072513	positive regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0071600	otic vesicle morphogenesis	IEA	biological process
GO:0071599	otic vesicle development	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0048752	semicircular canal morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045664	regulation of neuron differentiation	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0042473	outer ear morphogenesis	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0016925	protein sumoylation	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Branchio-oto-renal syndrome	KEGG:H00453
OFC syndrome	KEGG:H02046
Branchio-oto-renal syndrome	KEGG:H00453
OFC syndrome	KEGG:H02046
Branchiootorenal syndrome	PMID:9361030
mitochondrial myopathy	PMID:23107834
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospadias	MIK: 25108383

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25108383	Hypospadias	rs16937456		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS