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EYA1

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (parathyroid gland)
GTEx:Tissue enhanced (pituitary gland, caudate)
FANTOM5:Tissue enhanced (pituitary gland, retina, caudate)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
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
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (parathyroid gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland, caudate)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland, retina, caudate)

GENE INFORMATION

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 83.38)

Entrez gene

 2138

UniProt

 Q99502 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99502

Antibodypedia

 EYA1 antibodies

PROTEIN BROWSER
EYA1-001
EYA1-002
EYA1-005
EYA1-010
EYA1-011
EYA1-012
EYA1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EYA1-001
ENSP00000342626
ENST00000340726
Q99502 [Direct mapping]
Eyes absent homolog 1
A0A024R813 [Target identity:100%; Query identity:100%]
Eyes absent homolog
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Show all
GO:0000132 [establishment of mitotic spindle orientation]
GO:0001656 [metanephros development]
GO:0001657 [ureteric bud development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0003151 [outflow tract morphogenesis]
GO:0003723 [RNA binding]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006351 [transcription, DNA-templated]
GO:0006470 [protein dephosphorylation]
GO:0007275 [multicellular organismal development]
GO:0007389 [pattern specification process]
GO:0007501 [mesodermal cell fate specification]
GO:0007605 [sensory perception of sound]
GO:0009653 [anatomical structure morphogenesis]
GO:0009887 [organ morphogenesis]
GO:0010212 [response to ionizing radiation]
GO:0014706 [striated muscle tissue development]
GO:0016576 [histone dephosphorylation]
GO:0016925 [protein sumoylation]
GO:0032993 [protein-DNA complex]
GO:0034613 [cellular protein localization]
GO:0035088 [establishment or maintenance of apical/basal cell polarity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0035909 [aorta morphogenesis]
GO:0042472 [inner ear morphogenesis]
GO:0042473 [outer ear morphogenesis]
GO:0042474 [middle ear morphogenesis]
GO:0043234 [protein complex]
GO:0045165 [cell fate commitment]
GO:0045664 [regulation of neuron differentiation]
GO:0045739 [positive regulation of DNA repair]
GO:0045747 [positive regulation of Notch signaling pathway]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0048665 [neuron fate specification]
GO:0048704 [embryonic skeletal system morphogenesis]
GO:0048752 [semicircular canal morphogenesis]
GO:0048856 [anatomical structure development]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0060037 [pharyngeal system development]
GO:0060487 [lung epithelial cell differentiation]
GO:0071599 [otic vesicle development]
GO:0071600 [otic vesicle morphogenesis]
GO:0072513 [positive regulation of secondary heart field cardioblast proliferation]
GO:0090103 [cochlea morphogenesis]
GO:2001240 [negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Show all
 592 aa
64.6 kDa 		No 0
EYA1-002
ENSP00000373394
ENST00000388742
Q99502 [Direct mapping]
Eyes absent homolog 1
A0A024R813 [Target identity:100%; Query identity:100%]
Eyes absent homolog
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006351 [transcription, DNA-templated]
GO:0007275 [multicellular organismal development]
GO:0007605 [sensory perception of sound]
GO:0009653 [anatomical structure morphogenesis]
GO:0010212 [response to ionizing radiation]
GO:0016576 [histone dephosphorylation]
GO:0016925 [protein sumoylation]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0045739 [positive regulation of DNA repair]
GO:0046872 [metal ion binding]
Show all
 592 aa
64.6 kDa 		No 0
EYA1-005
ENSP00000410176
ENST00000419131
Q99502 [Direct mapping]
Eyes absent homolog 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006351 [transcription, DNA-templated]
GO:0007275 [multicellular organismal development]
GO:0007605 [sensory perception of sound]
GO:0009653 [anatomical structure morphogenesis]
GO:0010212 [response to ionizing radiation]
GO:0016576 [histone dephosphorylation]
GO:0016925 [protein sumoylation]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0045739 [positive regulation of DNA repair]
GO:0046872 [metal ion binding]
Show all
 557 aa
60.7 kDa 		No 0
EYA1-010
ENSP00000303221
ENST00000303824
A6NCB9 [Direct mapping]
Eyes absent homolog
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007275 [multicellular organismal development]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0042471 [ear morphogenesis]
GO:0046872 [metal ion binding]
Show all
 586 aa
64 kDa 		No 0
EYA1-011
ENSP00000373395
ENST00000388743
F8WB53 [Direct mapping]
Eyes absent homolog
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007275 [multicellular organismal development]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0042471 [ear morphogenesis]
GO:0046872 [metal ion binding]
Show all
 591 aa
64.5 kDa 		No 0
EYA1-012
ENSP00000373393
ENST00000388741
E7EQM5 [Direct mapping]
Eyes absent homolog
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007275 [multicellular organismal development]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0042471 [ear morphogenesis]
GO:0046872 [metal ion binding]
Show all
 558 aa
61.1 kDa 		No 0
EYA1-201
ENSP00000373392
ENST00000388740
Q99502 [Direct mapping]
Eyes absent homolog 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006351 [transcription, DNA-templated]
GO:0007275 [multicellular organismal development]
GO:0007605 [sensory perception of sound]
GO:0009653 [anatomical structure morphogenesis]
GO:0010212 [response to ionizing radiation]
GO:0016576 [histone dephosphorylation]
GO:0016925 [protein sumoylation]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0045739 [positive regulation of DNA repair]
GO:0046872 [metal ion binding]
Show all
 559 aa
61.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.