| Identification |
|---|
| HMDB Protein ID
| CDBP03930 |
| Secondary Accession Numbers
| Not Available |
| Name
| Eyes absent homolog 1 |
| Description
| Not Available |
| Synonyms
|
Not Available
|
| Gene Name
| EYA1 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in catalytic activity |
| Specific Function
| Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). '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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Seems to coactivate SIX2, SIX4 and SIX5. May be required for normal development of branchial arches, ear and kidney.
|
| GO Classification
|
| Biological Process |
| pharyngeal system development |
| positive regulation of transcription from RNA polymerase II promoter |
| positive regulation of DNA repair |
| aorta morphogenesis |
| positive regulation of Notch signaling pathway |
| branching involved in ureteric bud morphogenesis |
| positive regulation of secondary heart field cardioblast proliferation |
| cell fate commitment |
| protein sumoylation |
| cellular protein localization |
| regulation of neuron differentiation |
| cochlea morphogenesis |
| striated muscle tissue development |
| embryonic skeletal system morphogenesis |
| positive regulation of epithelial cell proliferation |
| establishment of mitotic spindle orientation |
| transcription, DNA-dependent |
| establishment or maintenance of apical/basal cell polarity |
| sensory perception of sound |
| histone dephosphorylation |
| negative regulation of apoptotic process |
| lung epithelial cell differentiation |
| metanephros development |
| pattern specification process |
| middle ear morphogenesis |
| response to ionizing radiation |
| otic vesicle morphogenesis |
| double-strand break repair |
| outer ear morphogenesis |
| anatomical structure morphogenesis |
| outflow tract morphogenesis |
| semicircular canal morphogenesis |
| Cellular Component |
| cytoplasm |
| nucleus |
| Function |
| catalytic activity |
| Molecular Function |
| metal ion binding |
| protein tyrosine phosphatase activity |
| Process |
| multicellular organismal development |
| metabolic process |
| multicellular organismal process |
|
| Cellular Location
|
- Nucleus
- Cytoplasm
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Transcriptional misregulation in cancer | Not Available |  |
|
| Gene Properties |
|---|
| Chromosome Location
| 8 |
| Locus
| 8q13.3 |
| SNPs
| EYA1 |
| Gene Sequence
|
>1779 bp
ATGGAAATGCAGGATCTAACCAGCCCGCATAGCCGTCTGAGTGGTAGTAGTGAATCCCCC
AGTGGCCCCAAACTCGGTAACTCTCATATAAATAGTAATTCCATGACTCCCAATGGCACC
GAAGTTAAAACAGAGCCAATGAGCAGCAGTGAAACAGCTTCAACGACAGCCGACGGGTCT
TTAAACAATTTCTCAGGTTCAGCAATTGGGAGCAGTAGTTTCAGCCCACGACCAACTCAC
CAGTTCTCTCCACCACAGATTTACCCTTCCAACAGACCATACCCACATATTCTCCCTACC
CCTTCCTCACAAACTATGGCTGCATATGGGCAAACACAGTTTACCACAGGAATGCAACAA
GCTACAGCCTATGCCACGTACCCACAGCCAGGACAGCCGTACGGCATTTCCTCATATGGT
GCATTGTGGGCAGGCATCAAGACTGAAGGTGGATTGTCACAGTCTCAGTCACCTGGACAG
ACAGGATTTCTCAGCTATGGCACAAGCTTCAGTACCCCTCAACCTGGACAGGCACCATAC
AGCTACCAGATGCAAGGTAGCAGTTTTACAACATCATCAGGAATATATACAGGAAATAAT
TCACTCACAAATTCCTCTGGATTTAATAGTTCACAGCAGGACTATCCGTCTTATCCCAGT
TTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCACCGTATCCAGCACATTATATG
ACCAGCAGCAACACCAGCCCAACGACACCATCCACCAATGCCACTTACCAGCTTCAAGAA
CCGCCATCTGGCATCACCAGCCAAGCAGTTACAGATCCCACAGCAGAGTACAGCACAATC
CACAGCCCATCAACACCCATTAAAGATTCAGATTCTGATCGATTGCGTCGAGGTTCAGAT
GGGAAATCACGTGGACGGGGCCGAAGAAACAATAATCCTTCACCTCCCCCAGATTCTGAT
CTTGAGAGAGTGTTCATCTGGGACTTGGATGAGACAATCATTGTTTTCCACTCCTTGCTT
ACTGGGTCCTACGCCAACAGATATGGGAGGGATCCACCCACTTCAGTTTCCCTTGGACTG
CGAATGGAAGAAATGATTTTCAACTTGGCAGACACACATTTATTTTTTAATGACTTAGAA
GAATGTGACCAAGTCCATATAGATGATGTTTCTTCAGATGATAACGGACAGGACCTAAGC
ACATATAACTTTGGAACAGATGGCTTTCCTGCTGCAGCAACCAGTGCTAACTTATGTTTG
GCAACTGGTGTACGGGGCGGTGTGGACTGGATGAGAAAGTTGGCCTTCCGCTACAGACGG
GTAAAAGAGATCTACAACACCTACAAAAATAATGTTGGAGGTCTGCTTGGTCCAGCTAAG
AGGGAAGCCTGGCTGCAGTTGAGGGCCGAAATTGAAGCCCTGACCGACTCCTGGTTGACA
CTGGCCCTGAAAGCACTCTCGCTCATTCACTCCCGGACAAACTGTGTGAATATTTTAGTA
ACAACTACTCAGCTCATCCCAGCATTGGCGAAAGTCCTGCTGTATGGGTTAGGAATTGTA
TTTCCAATAGAAAATATTTACAGTGCAACTAAAATAGGAAAAGAAAGCTGTTTTGAGAGA
ATAATTCAAAGGTTTGGAAGAAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAA
GAACAAGGAGCAAAAAAGCACGCGATGCCCTTCTGGAGGATCTCCAGCCACTCGGACCTC
ATGGCCCTGCACCATGCCTTGGAACTGGAGTACCTGTAA
|
| Protein Properties |
|---|
| Number of Residues
| 592 |
| Molecular Weight
| 64592.905 |
| Theoretical pI
| 6.21 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Eyes absent homolog 1
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGS
LNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQ
ATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPY
SYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM
TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGL
RMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT
LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFER
IIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL
|
| External Links |
|---|
| GenBank ID Protein
| 19923100 |
| UniProtKB/Swiss-Prot ID
| Q99502 |
| UniProtKB/Swiss-Prot Entry Name
| EYA1_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_000503.4 |
| GeneCard ID
| EYA1 |
| GenAtlas ID
| EYA1 |
| HGNC ID
| HGNC:3519 |
| References |
|---|
| General References
| Not Available |