Seroatlas · Human Serome Atlas

EYA1

Protein phosphatase EYA1

Also known as: BOR, EYA1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q99502
Gene
EYA1
Ensembl
ENSG00000104313
Chromosome
8
Canonical length
592 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

592 residues, UniProt reviewed canonical sequence.

>Q99502|EYA1
     1  MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS ETASTTADGS
    61  LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT PSSQTMAAYG QTQFTTGMQQ
   121  ATAYATYPQP GQPYGISSYG ALWAGIKTEG GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY
   181  SYQMQGSSFT TSSGIYTGNN SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM
   241  TSSNTSPTTP STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD
   301  GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR DPPTSVSLGL
   361  RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS TYNFGTDGFP AAATSANLCL
   421  ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN NVGGLLGPAK REAWLQLRAE IEALTDSWLT
   481  LALKALSLIH SRTNCVNILV TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER
   541  IIQRFGRKVV YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EYA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 22 nTPM
  • choroid plexus: 14 nTPM
  • prostate: 11 nTPM
  • thymus: 11 nTPM
  • pituitary gland: 6.9 nTPM
  • cerebral cortex: 5.6 nTPM

Single-cell type

  • pituitary stem cells: 2,529 nCPM
  • gonadotrophs: 1,089 nCPM
  • medullary thymic epithelial cells: 1,042 nCPM
  • corticotrophs: 652 nCPM
  • choroid plexus epithelial cells: 652 nCPM
  • ependymal cells: 560 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 44 nTPM
  • basal ganglia: 19 nTPM
  • midbrain: 14 nTPM
  • thalamus: 13 nTPM
  • amygdala: 9.6 nTPM
  • hypothalamus: 8.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EYA1.

Disease | AllUniProt

Conditions EYA1 is implicated in, by any mechanism.

  • Branchiootorenal syndrome 1 (BOR1) MIM:113650
  • Otofaciocervical syndrome 1 (OTFCS1) MIM:166780
  • Branchiootic syndrome 1 (BOS1) MIM:602588
  • Anterior segment anomalies with or without cataract (ASA) MIM:602588

Disease | GeneticClinVar

203 pathogenic / likely-pathogenic of 731 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.33
gnomAD pLI
0.95
gnomAD missense Z
1.02
DepMap mean gene effect
0.18
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EYA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EYA1 as an antibody target. Whether an autoantibody or antibody against EYA1 could matter depends on whether native EYA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EYA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EYA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EYA1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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