Eya1
entrez
14048
canonical
uniprot
P97767
canonical
ensembl
ENSMUSG00000025932
resolver
ensp
ENSMUSP00000027066
resolver
ensp
ENSMUSP00000079493
resolver
ensp
ENSMUSP00000126383
resolver
ensp
ENSMUSP00000141112
resolver
ensp
ENSMUSP00000299133
resolver
ensp
ENSMUSP00000299136
resolver
ensp
ENSMUSP00000299137
resolver
enst
ENSMUST00000080664
resolver
enst
ENSMUST00000168081
resolver
genesymbol
Eya1
resolver
uniprot
A0ACM8Q269
resolver
uniprot
F6YST4
resolver
uniprot
F7B3B8
resolver
uniprot
G5E864
resolver
uniprot
O08818
resolver
uniprot
Q6PAJ8
resolver
uniprot
Q8C9D0
resolver
uniprot_entry
A0ACM8Q269_MOUSE
resolver
uniprot_entry
EYA1_MOUSE
resolver
uniprot_entry
F6YST4_MOUSE
resolver
uniprot_entry
Q6PAJ8_MOUSE
resolver
uniprot_entry
Q8C9D0_MOUSE
resolver
uniprot_sec
F7B3B8
resolver
uniprot_sec
G5E864
resolver
uniprot_sec
O08818
resolver
amino_acid_sequence
MEMQDLTSPHSRLSGSSESPSGPKLDSSHINSTSMTPNGTEVKTEPMSSSEIASTAADGSLDSFSGSALGSSSFSPRPAHPFSPPQIYPSKSYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTESGLSQSQSPGQTGFLSYGTSFGTPQPGQAPYSYQMQGSSFTTSSGLYSGNNSLTNSSGFNSSQQDYPSYPGFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGVTSQAVTDPTAEYSTIHSPSTPIKETDSERLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRVSSHSDLMALHHALELEYL
uniprot
proteins
disease_involvement
DISEASE: Note=A spontaneous mutation leading to decreased Eya1 expression gives rise to the Eya1-bor phenotype. It is characterized by circling behavior and deafness, due to gross morphological abnormalities of the inner ear, and dysmorphic or missing kidneys. This autosomal recessive trait resembles human branchio-oto-renal (BOR) syndrome. {ECO:0000269|PubMed:10072433}.
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 (PubMed:10490620). 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 (PubMed:14628042). Also has phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (PubMed:10471511). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (PubMed:17098221). {ECO:0000269|PubMed:10471511, ECO:0000269|PubMed:10490620, ECO:0000269|PubMed:14628042, ECO:0000269|PubMed:17098221, ECO:0000269|PubMed:19234442}.
uniprot
proteins
mass_dalton
64324
uniprot
proteins
mutagenesis
MUTAGEN 43; /note="K->R: Markedly reduced sumoylation; when associated with R-459."; /evidence="ECO:0000269|PubMed:16990542"; MUTAGEN 459; /note="K->R: Markedly reduced sumoylation; when associated with R-43."; /evidence="ECO:0000269|PubMed:16990542
uniprot
proteins
post_translational_modification
PTM: Sumoylated with SUMO1. {ECO:0000269|PubMed:16990542}.
uniprot
proteins
protein_family
EYA family
uniprot
proteins
protein_family
HAD-like hydrolase superfamily
uniprot
proteins
pubmed
10072433
uniprot
proteins
pubmed
10471511
uniprot
proteins
pubmed
10490620
uniprot
proteins
pubmed
14628042
uniprot
proteins
pubmed
14628052
uniprot
proteins
pubmed
16024294
uniprot
proteins
pubmed
16990542
uniprot
proteins
pubmed
17098221
uniprot
proteins
pubmed
19234442
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
9006082
uniprot
proteins
pubmed
9020840
uniprot
proteins
pubmed
9887327
uniprot
proteins
sequence_length
591
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10490620}. Nucleus {ECO:0000269|PubMed:10490620, ECO:0000269|PubMed:19234442}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000250|UniProtKB:Q99502}.
uniprot
proteins