EYA1
entrez
2138
canonical
uniprot
Q99502
canonical
ensembl
ENSG00000104313
resolver
ensp
ENSP00000303221
resolver
ensp
ENSP00000342626
resolver
ensp
ENSP00000373392
resolver
ensp
ENSP00000373393
resolver
ensp
ENSP00000373394
resolver
ensp
ENSP00000373395
resolver
ensp
ENSP00000410176
resolver
ensp
ENSP00000494438
resolver
ensp
ENSP00000494568
resolver
ensp
ENSP00000495390
resolver
ensp
ENSP00000496188
resolver
ensp
ENSP00000496255
resolver
ensp
ENSP00000532576
resolver
ensp
ENSP00000532577
resolver
ensp
ENSP00000635039
resolver
ensp
ENSP00000635040
resolver
ensp
ENSP00000635041
resolver
enst
ENST00000303824
resolver
enst
ENST00000388743
resolver
enst
ENST00000643681
resolver
enst
ENST00000644229
resolver
enst
ENST00000644712
resolver
enst
ENST00000862517
resolver
enst
ENST00000964980
resolver
enst
ENST00000964982
resolver
genesymbol
EYA1
resolver
hgnc
HGNC:3519
resolver
uniprot
A0A2R8Y6K4
resolver
uniprot
A0A2R8YET7
resolver
uniprot
A0A2R8YGM9
resolver
uniprot
A6NCB9
resolver
uniprot
A6NHQ0
resolver
uniprot
B3KXR1
resolver
uniprot
B4DJ28
resolver
uniprot
F8WB53
resolver
uniprot
G5E9R4
resolver
uniprot
Q0P516
resolver
uniprot
Q0P517
resolver
uniprot
Q8WX80
resolver
uniprot_entry
A0A2R8Y6K4_HUMAN
resolver
uniprot_entry
A0A2R8YET7_HUMAN
resolver
uniprot_entry
A0A2R8YGM9_HUMAN
resolver
uniprot_entry
A6NCB9_HUMAN
resolver
uniprot_entry
B3KXR1_HUMAN
resolver
uniprot_entry
B4DJ28_HUMAN
resolver
uniprot_entry
EYA1_HUMAN
resolver
uniprot_entry
F8WB53_HUMAN
resolver
uniprot_entry
Q0P517_HUMAN
resolver
uniprot_sec
A6NHQ0
resolver
uniprot_sec
G5E9R4
resolver
uniprot_sec
Q0P516
resolver
uniprot_sec
Q8WX80
resolver
amino_acid_sequence
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL
uniprot
proteins
disease_involvement
DISEASE: Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A 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. {ECO:0000269|PubMed:10464653, ECO:0000269|PubMed:10655545, ECO:0000269|PubMed:10991693, ECO:0000269|PubMed:11558900, ECO:0000269|PubMed:21280147, ECO:0000269|PubMed:9361030}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Otofaciocervical syndrome 1 (OTFCS1) [MIM:166780]: A 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. {ECO:0000269|PubMed:11409867, ECO:0000269|PubMed:16441263}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Branchiootic syndrome 1 (BOS1) [MIM:602588]: A 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. {ECO:0000269|PubMed:12701758, ECO:0000269|PubMed:16691597, ECO:0000269|PubMed:9359046}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A 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. {ECO:0000269|PubMed:10655545}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.16
uniprot
proteins
ec_number
3.1.3.48
uniprot
proteins
function
FUNCTION: 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). Also has 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). {ECO:0000250|UniProtKB:P97767, ECO:0000269|PubMed:19234442}.
uniprot
proteins
mass_dalton
64593
uniprot
proteins
mutagenesis
MUTAGEN 328; /note="D->A: Loss of tyrosine phosphatase activity toward H2AX."; /evidence="ECO:0000269|PubMed:19234442
uniprot
proteins
post_translational_modification
PTM: Sumoylated with SUMO1. {ECO:0000250}.
uniprot
proteins
protein_family
EYA family
uniprot
proteins
protein_family
HAD-like hydrolase superfamily
uniprot
proteins
pubmed
10464653
uniprot
proteins
pubmed
10655545
uniprot
proteins
pubmed
10991693
uniprot
proteins
pubmed
11409867
uniprot
proteins
pubmed
11558900
uniprot
proteins
pubmed
12500905
uniprot
proteins
pubmed
12701758
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16441263
uniprot
proteins
pubmed
16691597
uniprot
proteins
pubmed
19234442
uniprot
proteins
pubmed
21280147
uniprot
proteins
pubmed
23508780
uniprot
proteins
pubmed
9020840
uniprot
proteins
pubmed
9359046
uniprot
proteins
pubmed
9361030
uniprot
proteins
sequence_length
592
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12500905}. Nucleus {ECO:0000269|PubMed:12500905, ECO:0000269|PubMed:19234442}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269|PubMed:19234442}.
uniprot
proteins