Goat anti-Human Eyes Absent Homolog 1 Polyclonal Antibody | anti-EYA1 antibody

Eyes Absent Homolog 1 (EYA1, Eyes Absent 1, OTTHUMP00000195053, Melnick-Fraser Syndrome, Eyes absent, Drosophila, homolog of, 1, MGC141875, BOR, BOP, Eyes Absent Homolog 1 (Drosophila))

Cat. Num. AAA628923

• Reactivity: Human
• Applications: ELISA, Western Blot
• Purity: Affinity Purified; Purified by peptide affinity chromatography.
• Synonyms: Eyes Absent Homolog 1; Polyclonal Antibody; Eyes Absent Homolog 1 (EYA1; Eyes Absent 1; OTTHUMP00000195053; Melnick-Fraser Syndrome; Eyes absent; Drosophila; homolog of; 1; MGC141875; BOR; BOP; Eyes Absent Homolog 1 (Drosophila)); Anti -Eyes Absent Homolog 1 (EYA1; anti-EYA1 antibody

• Host: Goat
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human EYA1. Species sequence homology
• Purity/Purification: Affinity Purified; Purified by peptide affinity chromatography.
• Form/Format: Supplied as a liquid in Tris saline, pH 7.3, 0.5% BSA, 0.02% sodium azide.

• Applicable Applications for anti-EYA1 antibody: ELISA (EL/EIA), Western Blot (WB)
• Application Notes: Suitable for use in ELISA and Western Blot.; Dilution: Peptide ELISA Titer: 1:16,000; Western Blot: 1-3ug/ml ~55kD band observed in lysates of cell lline HEK293 (calculated MW of 60.7kD according to NP_742056.1).
• Immunogen: Synthetic peptide corresponding to C-TDPTAEYSTIHSP, from the internal region of human EYA1 (NP_742057.1; NP_000494.2; NP_742056.1).
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot analysis in HEK293 lysate (35ug protein in RIPA buffer) using MBS628923 (2ug/ml). Primary incubation was 1 hour. Detected by chemiluminescence.)

Related Product Information for anti-EYA1 antibody

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. Four transcript variants encoding three distinct isoforms have been identified for this gene.

Product Categories/Family for anti-EYA1 antibody

Antibodies; Abs to Disease Markers

NCBI and Uniprot Product Information

• NCBI GI #: 71360880
• UniProt Accession #: Q4A4D0
• Molecular Weight: 9,472 Da
• NCBI Official Full Name: eyes absent homolog 1
• UniProt Protein Name: Eyes absent homolog 1
• Protein Family: Eyes absent
• UniProt Gene Name: EYA1
• UniProt Entry Name: Q4A4D0_HUMAN

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: EC 3.1.3.48; Cell development/differentiation; Protein phosphatase, tyrosine (non-receptor); Motility/polarity/chemotaxis; Apoptosis; EC 3.1.3.16; DNA repair, damage

Chromosomal Location of Human Ortholog: 8q13.3

Cellular Component: cytoplasm; nucleus

Molecular Function: protein binding; RNA binding; metal ion binding; protein tyrosine phosphatase activity

Biological Process: histone dephosphorylation; anatomical structure morphogenesis; striated muscle development; pharyngeal system development; positive regulation of DNA repair; transcription, DNA-dependent; regulation of neuron differentiation; outer ear morphogenesis; semicircular canal morphogenesis; establishment and/or maintenance of apical/basal cell polarity; middle ear morphogenesis; pattern specification process; embryonic skeletal morphogenesis; protein sumoylation; sensory perception of sound; establishment of mitotic spindle orientation; ureteric bud branching; double-strand break repair; neuron fate specification; positive regulation of transcription from RNA polymerase II promoter; response to ionizing radiation; metanephros development; positive regulation of epithelial cell proliferation; positive regulation of Notch signaling pathway

Disease: Branchiootic Syndrome 1; Otofaciocervical Syndrome 1; Branchiootorenal Syndrome 1