EYA1 cdna clone
EYA1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
EYA1: 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. Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1); 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. Defects in EYA1 are the cause of otofaciocervical syndrome (OFCS). The syndrome is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. Defects in EYA1 are the cause of branchiootic syndrome type 1 (BOS1); 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. Defects in EYA1 are the cause of anterior segment anomalies with or without cataract (ASA). 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. Belongs to the HAD-like hydrolase superfamily. EYA family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell development/differentiation; Apoptosis; EC 3.1.3.16; EC 3.1.3.48; DNA repair, damage; Motility/polarity/chemotaxis; Protein phosphatase, tyrosine (non-receptor)
Chromosomal Location of Human Ortholog: 8q13.3
Cellular Component: cytoplasm; nucleoplasm; nucleus
Molecular Function: protein binding; protein tyrosine phosphatase activity
Biological Process: anatomical structure morphogenesis; double-strand break repair; histone dephosphorylation; positive regulation of DNA repair; protein sumoylation; response to ionizing radiation; sensory perception of sound
Disease: Branchiootic Syndrome 1; Branchiootorenal Syndrome 1; Otofaciocervical Syndrome 1
Research Articles on EYA1
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Product Notes
The EYA1 eya1 (Catalog #AAA1278818) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGGAAATGC AGGATCTAAC CAGCCCGCAT AGCCGTCTGA GTGGTAGTAG TGAATCCCCC AGTGGCCCCA AACTCGGTAA CTCTCATATA AATAGTAATT CCATGACTCC CAATGGCACC GAAGTTAAAA CAGAGCCAAT GAGCAGCAGT GAAACAGCTT CAACGACAGC CGACGGGTCT TTAAACAATT TCTCAGGTTC AGCAATTGGG AGCAGTAGTT TCAGCCCACG ACCAACTCAC CAGTTCTCTC CACCACAGAT TTACCCTTCC AACAGACCAT ACCCACATAT TCTCCCTACC CCTTCCTCAC AAACTATGGC TGCATATGGG CAAACACAGT TTACCACAGG AATGCAACAA GCTACAGCCT ATGCCACGTA CCCACAGCCA GGACAGCCGT ACGGCATTTC CTCATATGGT GCATTGTGGG CAGGCATCAA GACTGAAGGT GGATTGTCAC AGTCTCAGTC ACCTGGACAG ACAGGATTTC TCAGCTATGG CACAAGCTTC AGTACCCCTC AACCTGGACA GGCACCATAC AGCTACCAGA TGCAAGGTAG CAGTTTTACA ACATCATCAG GAATATATAC AGGAAATAAT TCACTCACAA ATTCCTCTGG ATTTAATAGT TCACAGCAGG ACTATCCGTC TTATCCCAGT TTTGGCCAGG GTCAGTACGC ACAGTATTAT AACAGCTCAC CGTATCCAGC ACATTATATG ACCAGCAGCA ACACCAGCCC AACGACACCA TCCACCAATG CCACTTACCA GCTTCAAGAA CCGCCATCTG GCATCACCAG CCAAGCAGTT ACGGATCCCA CAGCAGAGTA CAGCACAATC CACAGCCCAT CAACACCCAT TAAAGATTCA GATTCTGATC GATTGCGTCG AGGTTCAGAT GGGAAATCAC GTGGACGGGG CCGAAGAAAC AATAATCCTT CACCTCCCCC AGATTCTGAT CTTGAGAGAG TGTTCATCTG GGACTTGGAT GAGACAATCA TTGTTTTCCA CTCCTTGCTT ACTGGGTCCT ACGCCAACAG ATATGGGAGG GATCCACCCA CTTCAGTTTC CCTTGGACTG CGAATGGAAG AAATGATTTT CAACTTGGCA GACACACATT TATTTTTTAA TGACTTAGAA GAATGTGACC AAGTCCATAT AGATGATGTT TCTTCAGATG ATAACGGACA GGACCTAAGC ACATATAACT TTGGAACAGA TGGCTTTCCT GCTGCAGCAA CCAGTGCTAA CTTATGTTTG GCAACTGGTG TACGGGGCGG TGTGGACTGG ATGAGAAAGT TGGCCTTCCG CTACAGACGG GTAAAAGAGA TCTACAACAC CTACAAAAAT AATGTTGGAG GTCTGCTTGG TCCAGCTAAG AGGGAAGCCT GGCTGCAGTT GAGGGCCGAA ATTGAAGCCC TGACCGACTC CTGGTTGACA CTGGCCCTGA AAGCACTCTC GCTCATTCAC TCCCGGACAA ACTGTGTGAA TATTTTAGTA ACAACTACTC AGCTCATCCC AGCATTGGCG AAAGTCCTGC TGTATGGGTT AGGAATTGTA TTTCCAATAG AAAATATTTA CAGTGCAACT AAAATAGGAA AAGAAAGCTG TTTTGAGAGA ATAATTCAAA GGTTTGGAAG AAAAGTGGTG TATGTTGTTA TAGGAGATGG TGTAGAAGAA GAACAAGGAG CAAAAAAGCA CGCGATGCCC TTCTGGAGGA TCTCCAGCCA CTCGGACCTC ATGGCCCTGC ACCATGCCTT GGAACTGGAG TACCTGTAA. It is sometimes possible for the material contained within the vial of "EYA1, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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