| Tag | Content |
|---|---|
| Uniprot ID | Q9Z191; Q0VAV8; |
| Entrez ID | 14051 |
| Genbank protein ID | AAI20900.1; EDL04766.1; CAA07820.1; CAA76637.1; |
| Genbank nucleotide ID | XM_006512524.3; NM_001347372.1; XM_006512523.3; |
| Ensembl protein ID | ENSMUSP00000073970; ENSMUSP00000151287; |
| Ensembl nucleotide ID | ENSMUSG00000010461 |
| Gene name | Eyes absent homolog 4 |
| Gene symbol | Eya4 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 18219393 |
| Functional description | 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. May be involved in development of the eye (By similarity). |
| Sequence | MEDTQDLNEQ SVKKTCPEAD VSEPQNSRSM EMQDLASPHA LVGGSDTPGS SKLDKSGLSS 60 TSVTTNGTGV SLLAVKTEPL HSSESTTTTG DGALDTFTGS VITSSGYSPR SAQQYSPQLY 120 PSKPYPHILS TPAAQTMSAY AGQTQYSGMQ QPAVYTAYSQ TGQPYSLPAY DLGVMLPAIK 180 TESGLSQTQS PLQSGCLSYS PGFSTPQPGQ TPYSYQMPGS SFAPSSTIYA NNSVSNSTNF 240 SSSQQDYPSY TAFGQNQYAQ YYSASTYGAY MTSNNTADGT SSSTSTYQLQ ESLQGLTSQP 300 GEFDTVQSPS TPIKDLDDRT CRSSGSKSRG RGRKNNPSPP PDSDLERVFV WDLDETIIVF 360 HSLLTGSYAQ KYGKDPPMAV TLGLRMEEMI FNLADTHLFF NDLEECDQVH IDDVSSDDNG 420 QDLSTYSFAT DGFHAAASSA NLCLPTGVRG GVDWMRKLAF RYRRVKELYN TYKNNVGGLL 480 GPAKRDAWLQ LRAEIEGLTD SWLTNALKSL SIISTRSNCV NVLVTTTQLI PALAKVLLYS 540 LGGAFPIENI YSATKIGKES CFERIVSRFG TNITYVVIGD GRDEEHAANQ HNMPFWRISS 600 HSDLLALHQA LELEYL 616 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004725 | protein tyrosine phosphatase activity | IBA |
| GO:0008134 | transcription factor binding | ISO |
| GO:0046872 | metal ion binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006281 | DNA repair | IEA |
| GO:0007605 | sensory perception of sound | IMP |
| GO:0016576 | histone dephosphorylation | IBA |
| GO:0030154 | cell differentiation | IBA |
| GO:0035335 | peptidyl-tyrosine dephosphorylation | IEA |
| GO:0042474 | middle ear morphogenesis | IMP |
| GO:0045739 | positive regulation of DNA repair | IBA |
| GO:0048856 | anatomical structure development | IBA |
| GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IBA |
| GO:0005737 | cytoplasm | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-5693532 | DNA Double-Strand Break Repair | IEA |
| R-MMU-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | IEA |
| R-MMU-5693606 | DNA Double Strand Break Response | IEA |
| R-MMU-73894 | DNA Repair | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0007 | Acetylation |
| KW-0010 | Activator |
| KW-0156 | Chromatin regulator |
| KW-0963 | Cytoplasm |
| KW-0217 | Developmental protein |
| KW-0227 | DNA damage |
| KW-0234 | DNA repair |
| KW-0378 | Hydrolase |
| KW-1017 | Isopeptide bond |
| KW-0460 | Magnesium |
| KW-0479 | Metal-binding |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-0904 | Protein phosphatase |
| KW-1185 | Reference proteome |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0832 | Ubl conjugation |