EYA1

Functionⁱ

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).By similarity1 Publication

Catalytic activityⁱ

Protein tyrosine phosphate + H₂O = protein tyrosine + phosphate.1 Publication

[a protein]-serine/threonine phosphate + H₂O = [a protein]-serine/threonine + phosphate.1 Publication

Cofactorⁱ

Mg²⁺By similarityNote: Binds 1 Mg²⁺ ion per subunit.By similarity

Sites

Feature key	Position(s)	DescriptionActions	Length
Active siteⁱ	328	NucleophileBy similarity	1
Metal bindingⁱ	328	MagnesiumBy similarity	1
Active siteⁱ	330	Proton donorBy similarity	1
Metal bindingⁱ	330	Magnesium; via carbonyl oxygenBy similarity	1
Metal bindingⁱ	556	MagnesiumBy similarity	1

GO - Molecular functionⁱ

metal ion binding Source: UniProtKB-KW
protein tyrosine phosphatase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 19234442
RNA binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anatomical structure morphogenesis
Source: ProtInc
Traceable author statementⁱ
- 9020840
aorta morphogenesis Source: Ensembl
branching involved in ureteric bud morphogenesis Source: Ensembl
cell differentiation Source: GO_Central
cochlea morphogenesis Source: Ensembl
double-strand break repair
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 19234442
embryonic skeletal system morphogenesis Source: Ensembl
histone dephosphorylation
Source: UniProtKB
Inferred from direct assayⁱ
- 19234442
mesodermal cell fate specification Source: Ensembl
metanephros development Source: Ensembl
middle ear morphogenesis Source: Ensembl
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: GO_Central
neuron fate specification Source: Ensembl
otic vesicle morphogenesis Source: Ensembl
outer ear morphogenesis Source: Ensembl
outflow tract morphogenesis Source: Ensembl
pattern specification process Source: Ensembl
pharyngeal system development Source: Ensembl
positive regulation of DNA repair
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 19234442
positive regulation of epithelial cell proliferation Source: Ensembl
positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
positive regulation of transcription by RNA polymerase II Source: Ensembl
protein sumoylation Source: UniProtKB
regulation of neuron differentiation Source: Ensembl
response to ionizing radiation
Source: UniProtKB
Inferred from direct assayⁱ
- 19234442
semicircular canal morphogenesis Source: Ensembl
sensory perception of sound
Source: ProtInc
Traceable author statementⁱ
- 9020840
striated muscle tissue development Source: Ensembl
transcription, DNA-templated Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Chromatin regulator, Developmental protein, Hydrolase, Protein phosphatase
Biological process	DNA damage, DNA repair, Transcription, Transcription regulation
Ligand	Magnesium, Metal-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
SIGNORⁱ	Q99502

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Eyes absent homolog 1 (EC:3.1.3.161 Publication, EC:3.1.3.481 Publication)
Gene namesⁱ	Name:EYA1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000104313.17
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3519 EYA1
MIMⁱ	601653 gene
neXtProtⁱ	NX_Q99502

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Branchiootorenal syndrome 1 (BOR1)6 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_064942	95	P → S in BOR1. 1 Publication	1
Natural variantⁱVAR_064943	140	G → S in BOR1. 1 Publication	1
Natural variantⁱVAR_064944	363	E → V in BOR1. 1 Publication	1
Natural variantⁱVAR_016865	426	G → S in BOR1; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909199EnsemblClinVar.	1
Natural variantⁱVAR_016866	429	D → G in BOR1. 1 Publication	1
Natural variantⁱVAR_016867	440	R → Q in BOR1. 2 PublicationsCorresponds to variant dbSNP:rs121909196EnsemblClinVar.	1
Natural variantⁱVAR_005203	487	S → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909200EnsemblClinVar.	1
Natural variantⁱVAR_005204	505	L → R in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909201EnsemblClinVar.	1
Natural variantⁱVAR_064945	514	L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs112340154Ensembl.	1
Natural variantⁱVAR_064946	527	Y → C in BOR1. 1 Publication	1
Natural variantⁱVAR_064947	569	M → T in BOR1. 1 Publication	1
Natural variantⁱVAR_016869	583	L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs397517920EnsemblClinVar.	1

Otofaciocervical syndrome 1 (OTFCS1)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.

Branchiootic syndrome 1 (BOS1)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_044452	242	S → G in BOS1. 1 PublicationCorresponds to variant dbSNP:rs191838840Ensembl.		1

Anterior segment anomalies with or without cataract (ASA)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_016864	363	E → K in ASA. 1 PublicationCorresponds to variant dbSNP:rs121909198EnsemblClinVar.		1
Natural variantⁱVAR_016868	547	R → G in ASA; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909197EnsemblClinVar.		1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	328	D → A: Loss of tyrosine phosphatase activity toward H2AX. 1 Publication		1

Keywords - Diseaseⁱ

Deafness, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2138
GeneReviewsⁱ	EYA1
MalaCards human disease database More...MalaCardsⁱ	EYA1
MIMⁱ	113650 phenotype 166780 phenotype 602588 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000104313
Orphanetⁱ	107 BOR syndrome 52429 Branchio-otic syndrome 2792 Otofaciocervical syndrome
PharmGKBⁱ	PA27931

Polymorphism and mutation databases

DMDMⁱ	3183005

DMDMⁱ

3183005

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000218643	1 – 592	Eyes absent homolog 1Add BLAST		592

Post-translational modificationⁱ

Sumoylated with SUMO1.By similarity

Keywords - PTMⁱ

Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q99502
PaxDbⁱ	Q99502
PeptideAtlas More...PeptideAtlasⁱ	Q99502
PRIDEⁱ	Q99502
ProteomicsDBⁱ	78303 78304 [Q99502-2]

PTM databases

DEPODⁱ	Q99502
iPTMnetⁱ	Q99502
PhosphoSitePlusⁱ	Q99502

Expressionⁱ

Tissue specificityⁱ

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.

Developmental stageⁱ

Detected in cytoplasm of somite cells at the beginning of fourth week of development. Detected in cytoplasm of limb bud cell between the sixth and eighth week of development.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000104313 Expressed in 145 organ(s), highest expression level in kidney
CleanExⁱ	HS_EYA1
ExpressionAtlasⁱ	Q99502 baseline and differential
Genevisibleⁱ	Q99502 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA028917

HPAⁱ

HPA028917

Interactionⁱ

Subunit structureⁱ

Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage. Interacts with SIX3; promotes EYA1 translocation to the nucleus.By similarity

Protein-protein interaction databases

BioGridⁱ	108439, 20 interactors
Database of interacting proteins More...DIPⁱ	DIP-60446N
IntActⁱ	Q99502, 3 interactors
STRINGⁱ	9606.ENSP00000342626

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q99502
SMRⁱ	Q99502
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the HAD-like hydrolase superfamily. EYA family.Curated

Phylogenomic databases

eggNOGⁱ	KOG3107 Eukaryota ENOG410XT12 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000008860
HOGENOMⁱ	HOG000293149
HOVERGENⁱ	HBG002447
InParanoidⁱ	Q99502
KEGG Orthology (KO) More...KOⁱ	K15616
OMAⁱ	YATYPQP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G04YD
PhylomeDBⁱ	Q99502
TreeFamⁱ	TF319337

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd02601 HAD_Eya, 1 hit
Gene3Dⁱ	3.40.50.12350, 1 hit
InterProⁱ	View protein in InterPro IPR006545 EYA_dom IPR038102 EYA_dom_sf IPR028472 EYA_fam IPR028471 Eyes_absent_h1
PANTHERⁱ	PTHR10190 PTHR10190, 1 hit PTHR10190:SF11 PTHR10190:SF11, 1 hit
TIGRFAMsⁱ	TIGR01658 EYA-cons_domain, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.ⁱShow all

Isoform EYA1A (identifier: Q99502-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS 
        60         70         80         90        100
ETASTTADGS LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT 
       110        120        130        140        150
PSSQTMAAYG QTQFTTGMQQ ATAYATYPQP GQPYGISSYG ALWAGIKTEG 
       160        170        180        190        200
GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY SYQMQGSSFT TSSGIYTGNN 
       210        220        230        240        250
SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM TSSNTSPTTP 
       260        270        280        290        300
STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD 
       310        320        330        340        350
GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR 
       360        370        380        390        400
DPPTSVSLGL RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS 
       410        420        430        440        450
TYNFGTDGFP AAATSANLCL ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN 
       460        470        480        490        500
NVGGLLGPAK REAWLQLRAE IEALTDSWLT LALKALSLIH SRTNCVNILV 
       510        520        530        540        550
TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER IIQRFGRKVV 
       560        570        580        590 
YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL

Length:592

Mass (Da):64,593

Last modified:July 15, 1998 - v2

Checksum:ⁱD62365F81EB692E2

GO

Isoform EYA1B (identifier: Q99502-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-41: MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTE → MLLFPQVA

« Hide

        10         20         30         40         50
MLLFPQVAVK TEPMSSSETA STTADGSLNN FSGSAIGSSS FSPRPTHQFS 
        60         70         80         90        100
PPQIYPSNRP YPHILPTPSS QTMAAYGQTQ FTTGMQQATA YATYPQPGQP 
       110        120        130        140        150
YGISSYGALW AGIKTEGGLS QSQSPGQTGF LSYGTSFSTP QPGQAPYSYQ 
       160        170        180        190        200
MQGSSFTTSS GIYTGNNSLT NSSGFNSSQQ DYPSYPSFGQ GQYAQYYNSS 
       210        220        230        240        250
PYPAHYMTSS NTSPTTPSTN ATYQLQEPPS GITSQAVTDP TAEYSTIHSP 
       260        270        280        290        300
STPIKDSDSD RLRRGSDGKS RGRGRRNNNP SPPPDSDLER VFIWDLDETI 
       310        320        330        340        350
IVFHSLLTGS YANRYGRDPP TSVSLGLRME EMIFNLADTH LFFNDLEECD 
       360        370        380        390        400
QVHIDDVSSD DNGQDLSTYN FGTDGFPAAA TSANLCLATG VRGGVDWMRK 
       410        420        430        440        450
LAFRYRRVKE IYNTYKNNVG GLLGPAKREA WLQLRAEIEA LTDSWLTLAL 
       460        470        480        490        500
KALSLIHSRT NCVNILVTTT QLIPALAKVL LYGLGIVFPI ENIYSATKIG 
       510        520        530        540        550
KESCFERIIQ RFGRKVVYVV IGDGVEEEQG AKKHAMPFWR ISSHSDLMAL 

HHALELEYL

Show »

Length:559

Mass (Da):61,211

Checksum:ⁱ6B638C22438309A8

GO

Isoform EYA1D (identifier: Q99502-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
140-144: Missing.
351-380: Missing.

« Hide

        10         20         30         40         50
MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS 
        60         70         80         90        100
ETASTTADGS LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT 
       110        120        130        140        150
PSSQTMAAYG QTQFTTGMQQ ATAYATYPQP GQPYGISSYG IKTEGGLSQS 
       160        170        180        190        200
QSPGQTGFLS YGTSFSTPQP GQAPYSYQMQ GSSFTTSSGI YTGNNSLTNS 
       210        220        230        240        250
SGFNSSQQDY PSYPSFGQGQ YAQYYNSSPY PAHYMTSSNT SPTTPSTNAT 
       260        270        280        290        300
YQLQEPPSGI TSQAVTDPTA EYSTIHSPST PIKDSDSDRL RRGSDGKSRG 
       310        320        330        340        350
RGRRNNNPSP PPDSDLERVF IWDLDETIIV FHSLLTGSYA NRYGRECDQV 
       360        370        380        390        400
HIDDVSSDDN GQDLSTYNFG TDGFPAAATS ANLCLATGVR GGVDWMRKLA 
       410        420        430        440        450
FRYRRVKEIY NTYKNNVGGL LGPAKREAWL QLRAEIEALT DSWLTLALKA 
       460        470        480        490        500
LSLIHSRTNC VNILVTTTQL IPALAKVLLY GLGIVFPIEN IYSATKIGKE 
       510        520        530        540        550
SCFERIIQRF GRKVVYVVIG DGVEEEQGAK KHAMPFWRIS SHSDLMALHH 

ALELEYL

Show »

Length:557

Mass (Da):60,660

Checksum:ⁱ7AAB97F0AAE440CC

GO

Computationally mapped potential isoform sequencesⁱ

There are 10 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation
F8WB53	F8WB53_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	591	Annotation score:
A6NCB9	A6NCB9_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	586	Annotation score:
E7EQM5	E7EQM5_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	558	Annotation score:
E5RHZ7	E5RHZ7_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	148	Annotation score:
E5RIQ7	E5RIQ7_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	212	Annotation score:
A0A2R8Y6K4	A0A2R8Y6K4_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	621	Annotation score:
A0A2R8YGM9	A0A2R8YGM9_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	585	Annotation score:
A0A2R8YET7	A0A2R8YET7_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	586	Annotation score:
A0A2R8YFS6	A0A2R8YFS6_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	82	Annotation score:
A0A2R8YF73	A0A2R8YF73_HUMAN	Eyes absent homolog Eyes absent homolog, EC 3.1.3.48	EYA1	90	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	33	N → D in AAL73437 (Ref. 3) Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_024439	20	P → A. Corresponds to variant dbSNP:rs1445404EnsemblClinVar.	1
Natural variantⁱVAR_070033	41	E → K Found in a patient with congenital cataract. 1 PublicationCorresponds to variant dbSNP:rs561111097Ensembl.	1
Natural variantⁱVAR_064942	95	P → S in BOR1. 1 Publication	1
Natural variantⁱVAR_064943	140	G → S in BOR1. 1 Publication	1
Natural variantⁱVAR_044452	242	S → G in BOS1. 1 PublicationCorresponds to variant dbSNP:rs191838840Ensembl.	1
Natural variantⁱVAR_016864	363	E → K in ASA. 1 PublicationCorresponds to variant dbSNP:rs121909198EnsemblClinVar.	1
Natural variantⁱVAR_064944	363	E → V in BOR1. 1 Publication	1
Natural variantⁱVAR_016865	426	G → S in BOR1; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909199EnsemblClinVar.	1
Natural variantⁱVAR_016866	429	D → G in BOR1. 1 Publication	1
Natural variantⁱVAR_016867	440	R → Q in BOR1. 2 PublicationsCorresponds to variant dbSNP:rs121909196EnsemblClinVar.	1
Natural variantⁱVAR_005203	487	S → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909200EnsemblClinVar.	1
Natural variantⁱVAR_005204	505	L → R in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909201EnsemblClinVar.	1
Natural variantⁱVAR_064945	514	L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs112340154Ensembl.	1
Natural variantⁱVAR_064946	527	Y → C in BOR1. 1 Publication	1
Natural variantⁱVAR_016868	547	R → G in ASA; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909197EnsemblClinVar.	1
Natural variantⁱVAR_064947	569	M → T in BOR1. 1 Publication	1
Natural variantⁱVAR_016869	583	L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs397517920EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_001486	1 – 41	MEMQD…PNGTE → MLLFPQVA in isoform EYA1B. CuratedAdd BLAST	41
Alternative sequenceⁱVSP_045793	140 – 144	Missing in isoform EYA1D. 1 Publication	5
Alternative sequenceⁱVSP_045794	351 – 380	Missing in isoform EYA1D. 1 PublicationAdd BLAST	30

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	Y10260 Genomic DNA Translation: CAA71309.1 AJ000097 mRNA Translation: CAA03922.1 AJ000098 mRNA Translation: CAA03923.1 AF467247 mRNA Translation: AAL73437.1 AC016465 Genomic DNA No translation available. AC022858 Genomic DNA No translation available. CH471068 Genomic DNA Translation: EAW86976.1 BC121799 mRNA Translation: AAI21800.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34906.1 [Q99502-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_000494.2, NM_000503.5 [Q99502-1] NP_001275503.1, NM_001288574.1 NP_001275504.1, NM_001288575.1 NP_742055.1, NM_172058.3 [Q99502-1] NP_742056.1, NM_172059.3 NP_742057.1, NM_172060.3 XP_016868695.1, XM_017013206.1 [Q99502-1] XP_016868701.1, XM_017013212.1 [Q99502-2]
UniGeneⁱ	Hs.444971 Hs.491997 Hs.612611

Genome annotation databases

Ensemblⁱ	ENST00000340726; ENSP00000342626; ENSG00000104313 [Q99502-1] ENST00000388740; ENSP00000373392; ENSG00000104313 [Q99502-2] ENST00000388742; ENSP00000373394; ENSG00000104313 [Q99502-1] ENST00000419131; ENSP00000410176; ENSG00000104313 [Q99502-3] ENST00000644427; ENSP00000496702; ENSG00000104313 [Q99502-1] ENST00000645793; ENSP00000496255; ENSG00000104313 [Q99502-1] ENST00000647540; ENSP00000494438; ENSG00000104313 [Q99502-1]
GeneIDⁱ	2138
KEGGⁱ	hsa:2138
UCSC genome browser More...UCSCⁱ	uc003xyr.6 human [Q99502-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q99502	Eyes absent homolog		HUMAN		621	UniRef100_Q99502
Eyes absent homolog		HUMAN		592
Eyes absent homolog (Fragment)		HUMAN		89
Eyes absent homolog (Fragment)		HUMAN		62
UPI0003EB01ED		HUMAN		475
Q99502-2	Eyes absent homolog (Fragment)		HUMAN		90	UniRef100_Q99502-2
UPI000387BEDF		HUMAN		571

Protein	Similar proteins		Species	Score	Length	Source
Q99502	Eyes absent homolog 1		MOUSE		591	UniRef90_P97767
Eyes absent homolog 1 (Fragment)		CHICK		119
Eyes absent homolog		ALLMI		649
Eyes absent homolog		ALLSI		622
Eyes absent homolog		MUSPF		621
+735
Q99502-3	Eyes absent homolog		NOMLE		557	UniRef90_G1RL07
Eyes absent homolog		HUMAN		586
eyes absent homolog 1		Florida manatee		573
Eyes absent homolog		PANTR		557
Eyes absent homolog		PONAB		557
+74

Protein	Similar proteins		Species	Score	Length	Source
Q99502	Eyes absent homolog 1		MOUSE		591	UniRef50_P97767
Eyes absent homolog 1 (Fragment)		CHICK		119
Eyes absent homolog		ALLMI		649
Eyes absent homolog		ALLSI		622
Eyes absent homolog		MUSPF		621
+1043
Q99502-3	Eyes absent homolog		MOUSE		502	UniRef50_Q811N7
Eyes absent homolog (Fragment)		OPHHA		493
Eyes absent homolog		ODORO		508
Eyes absent homolog		HUMAN		586
eyes absent homolog 1		Florida manatee		573
+84

Entry informationⁱ

Entry nameⁱ	EYA1_HUMAN
Accessionⁱ	Q99502Primary (citable) accession number: Q99502 Secondary accession number(s): A6NHQ0 , G5E9R4, Q0P516, Q8WX80
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
	Last sequence update:	July 15, 1998
	Last modified:	September 12, 2018
	This is version 164 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q99502 (EYA1_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Eyes absent homolog 1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Other locations

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ