EYA1

GENERAL INFORMATION

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Gene name

EYA1

Gene description

EYA transcriptional coactivator and phosphatase 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex, prostate)
GTEx:Tissue enhanced (prostate, vagina)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex, prostate)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (prostate, vagina)

Organ

Expression



GENE INFORMATION

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Gene name

EYA1 (HGNC Symbol)

Synonyms

BOR

Description

EYA transcriptional coactivator and phosphatase 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

8

Cytoband

q13.3

Chromosome location (bp)

71197433 - 71362232

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000104313 (version 78.38)

Entrez gene

2138

UniProt

Q99502 (UniProt - Evidence at protein level)

neXtProt

NX_Q99502

Antibodypedia

EYA1 antibodies


PROTEIN BROWSER

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ENST00000303824
 
ENST00000340726
 
ENST00000388740
 
ENST00000388741
 
ENST00000388742
 
ENST00000388743
 
ENST00000419131
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EYA1-001 ENSP00000342626
ENST00000340726
Q99502
Show all »
Show » Show » 592 64.6 No 0
EYA1-002 ENSP00000373394
ENST00000388742
Q99502
Show all »
Show » Show » 592 64.6 No 0
EYA1-005 ENSP00000410176
ENST00000419131
Q99502
Show all »
Show » Show » 557 60.7 No 0
EYA1-010 ENSP00000303221
ENST00000303824
A6NCB9
Show all »
Show » Show » 586 64 No 0
EYA1-011 ENSP00000373395
ENST00000388743
F8WB53
Show all »
Show » Show » 591 64.5 No 0
EYA1-012 ENSP00000373393
ENST00000388741
E7EQM5
Show all »
Show » Show » 558 61.1 No 0
EYA1-201 ENSP00000373392
ENST00000388740
Q99502
Show all »
Show » Show » 559 61.2 No 0