Human Gene EYA1 (ENST00000388742.8) from GENCODE V44
Description: Homo sapiens EYA transcriptional coactivator and phosphatase 1 (EYA1), transcript variant EYA1B, mRNA. (from RefSeq NM_172058) RefSeq Summary (NM_172058): This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000388742.8 Gencode Gene: ENSG00000104313.20 Transcript (Including UTRs) Position: hg38 chr8:71,197,433-71,356,678 Size: 159,246 Total Exon Count: 17 Strand: - Coding Region Position: hg38 chr8:71,199,340-71,354,905 Size: 155,566 Coding Exon Count: 16
ID:EYA1_HUMAN DESCRIPTION: RecName: Full=Eyes absent homolog 1; EC=3.1.3.48; 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. CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. COFACTOR: Binds 1 Mg(2+) ion per subunit (By similarity). SUBUNIT: Probably interacts with SIX2, SIX4 and SIX5 (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). TISSUE SPECIFICITY: 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 STAGE: 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. PTM: Sumoylated with SUMO1 (By similarity). DISEASE: Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1) [MIM:113650]; also known as Melnick-Fraser syndrome. BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. DISEASE: Defects in EYA1 are the cause of otofaciocervical syndrome (OFCS) [MIM:166780]. The syndrome is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. DISEASE: Defects in EYA1 are the cause of branchiootic syndrome type 1 (BOS1) [MIM:602588]; also known as BO syndrome type 1 or branchiootic dysplasia. Individuals with BOS1 are affected by the same branchial and otic anomalies as those seen in individuals with BOR1, but lack renal anomalies. DISEASE: Defects in EYA1 are the cause of 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. SIMILARITY: Belongs to the HAD-like hydrolase superfamily. EYA family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EYA1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99502
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AJ000097 - Homo sapiens mRNA for EYA1B gene. AJ000098 - Homo sapiens mRNA for EYA1C gene. AK127798 - Homo sapiens cDNA FLJ45899 fis, clone OCBBF3025503, highly similar to Eyes absent homolog 1 (EC 3.1.3.48). AK295897 - Homo sapiens cDNA FLJ61289 complete cds, highly similar to Eyes absent homolog 1 (EC 3.1.3.48). BC121798 - Homo sapiens eyes absent homolog 1 (Drosophila), mRNA (cDNA clone MGC:141875 IMAGE:40084971), complete cds. BC121799 - Homo sapiens eyes absent homolog 1 (Drosophila), mRNA (cDNA clone MGC:141874 IMAGE:40084967), complete cds. AF467247 - Homo sapiens EYA1D (EYA1) mRNA, complete cds; alternatively spliced. KJ901419 - Synthetic construct Homo sapiens clone ccsbBroadEn_10813 EYA1 gene, encodes complete protein. KJ896791 - Synthetic construct Homo sapiens clone ccsbBroadEn_06185 EYA1 gene, encodes complete protein. KR711890 - Synthetic construct Homo sapiens clone CCSBHm_00031717 EYA1 (EYA1) mRNA, encodes complete protein. KR711891 - Synthetic construct Homo sapiens clone CCSBHm_00031729 EYA1 (EYA1) mRNA, encodes complete protein. KR711892 - Synthetic construct Homo sapiens clone CCSBHm_00031747 EYA1 (EYA1) mRNA, encodes complete protein. KR711893 - Synthetic construct Homo sapiens clone CCSBHm_00031756 EYA1 (EYA1) mRNA, encodes complete protein. JD262009 - Sequence 243033 from Patent EP1572962. JD250482 - Sequence 231506 from Patent EP1572962. JD073237 - Sequence 54261 from Patent EP1572962. JD480243 - Sequence 461267 from Patent EP1572962. JD525044 - Sequence 506068 from Patent EP1572962. JD385542 - Sequence 366566 from Patent EP1572962. JD095521 - Sequence 76545 from Patent EP1572962. JD298477 - Sequence 279501 from Patent EP1572962. JD230924 - Sequence 211948 from Patent EP1572962. JD067818 - Sequence 48842 from Patent EP1572962. JD412614 - Sequence 393638 from Patent EP1572962. JD422536 - Sequence 403560 from Patent EP1572962. JD133073 - Sequence 114097 from Patent EP1572962. JD304386 - Sequence 285410 from Patent EP1572962. JD436242 - Sequence 417266 from Patent EP1572962. JD163046 - Sequence 144070 from Patent EP1572962. JD098363 - Sequence 79387 from Patent EP1572962. JD091075 - Sequence 72099 from Patent EP1572962. JD040110 - Sequence 21134 from Patent EP1572962. JD460469 - Sequence 441493 from Patent EP1572962. JD109649 - Sequence 90673 from Patent EP1572962. JD102544 - Sequence 83568 from Patent EP1572962. JD214921 - Sequence 195945 from Patent EP1572962. JD345287 - Sequence 326311 from Patent EP1572962. KJ452455 - Homo sapiens PVT1/EYA1 fusion protein isoform 3 mRNA, partial cds. AK307379 - Homo sapiens cDNA, FLJ97327. JD302086 - Sequence 283110 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q99502 (Reactome details) participates in the following event(s):
R-HSA-5683964 ATM phosphorylates EYA1-4 R-HSA-5683967 EYA1-4 dephosphorylates tyrosine Y142 of H2AFX R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks R-HSA-5693606 DNA Double Strand Break Response R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-73894 DNA Repair
US Server
