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Protein Coding Gene : Eya1 EYA transcriptional coactivator and phosphatase 1

Primary Identifier  MGI:109344 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  14048
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables RNA binding activity and protein tyrosine phosphatase activity. Involved in mesodermal cell fate specification; positive regulation of DNA-templated transcription; and protein sumoylation. Acts upstream of or within several processes, including embryonic organ morphogenesis; epithelial cell differentiation; and positive regulation of cell population proliferation. Located in cytoplasm and nucleus. Part of protein-DNA complex. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Orthologous to human EYA1 (EYA transcriptional coactivator and phosphatase 1).
PHENOTYPE: Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia. [provided by MGI curators]
  • synonyms:
  • Eya1,
  • EYA transcriptional coactivator and phosphatase 1,
  • MGI:1891212,
  • MGD-MRK-38389,
  • bor,
  • branchiootorenal dysplasia

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

1 Driver For