EYA1 EYA transcriptional coactivator and phosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EYA1provided by HGNC
Official Full Name: EYA transcriptional coactivator and phosphatase 1provided by HGNC
Primary source: HGNC:HGNC:3519
See related: Ensembl:ENSG00000104313 MIM:601653; AllianceGenome:HGNC:3519
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BOP; BOR; BOS1; OFC1; OTFCS
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]
Expression: Biased expression in prostate (RPKM 2.8), brain (RPKM 1.5) and 7 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8q13.3

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (71197433..71548094, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (71626530..71983583, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (72109668..72460329, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and Functional Study of Enhancers of EYA1: The Causative Gene of Branchio-Oto-Renal Syndrome.
Title: Identification and Functional Study of Enhancers of EYA1: The Causative Gene of Branchio-Oto-Renal Syndrome.
[Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants].
Title: [Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants].
Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.
Title: Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Title: A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
Title: [Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.
Title: The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.
The deubiquitinase OTUB1 fosters papillary thyroid carcinoma growth through EYA1 stabilization.
Title: The deubiquitinase OTUB1 fosters papillary thyroid carcinoma growth through EYA1 stabilization.
Genome-Wide association between EYA1 and Aspirin-induced peptic ulceration.
Title: Genome-Wide association between EYA1 and Aspirin-induced peptic ulceration.
Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
Title: Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
The Eyes Absent proteins in development and in developmental disorders.
Title: The Eyes Absent proteins in development and in developmental disorders.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Branchiootic syndrome 1 MedGen: C1865143 OMIM: 602588 GeneReviews: Branchiootorenal Spectrum Disorder	not available
Branchiootorenal syndrome 1 MedGen: C4551702 OMIM: 113650 GeneReviews: Branchiootorenal Spectrum Disorder	not available
Otofaciocervical syndrome 1 MedGen: C3714941 OMIM: 166780 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-08-25) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-08-25) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of sleep and circadian phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G62463 (e-PCR)
- UniSTS:139521

SHGC-106306 (e-PCR)
- UniSTS:169760

Eya1 (e-PCR), detects polymorphism
- UniSTS:234058

RH94070 (e-PCR)
- UniSTS:92505

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MAP kinase serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin-dependent protein phosphatase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS140 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in aorta morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cochlea morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in mesodermal cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron fate specification	IEA Inferred from Electronic Annotation more info
involved_in otic vesicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in outer ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in pattern specification process	IEA Inferred from Electronic Annotation more info
involved_in pharyngeal system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of secondary heart field cardioblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in protein sumoylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in semicircular canal morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	TAS Traceable Author Statement more info	PubMed
involved_in striated muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-DNA complex	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: eyes absent homolog 1

NP_000494.2

EC 3.1.3.16

EC 3.1.3.48

NP_001275503.1

EC 3.1.3.16

EC 3.1.3.48

NP_001275504.1

EC 3.1.3.16

EC 3.1.3.48

NP_001357262.1

EC 3.1.3.16

EC 3.1.3.48

NP_001357263.1

EC 3.1.3.16

EC 3.1.3.48

NP_001357264.1

EC 3.1.3.16

EC 3.1.3.48

NP_001357265.1

EC 3.1.3.16

EC 3.1.3.48

NP_001398726.1

EC 3.1.3.16

EC 3.1.3.48

NP_742055.1

EC 3.1.3.16

EC 3.1.3.48

NP_742056.2

EC 3.1.3.16

EC 3.1.3.48

NP_742057.1

EC 3.1.3.16

EC 3.1.3.48

XP_011515786.2

EC 3.1.3.16

EC 3.1.3.48

XP_016868691.1

EC 3.1.3.16

EC 3.1.3.48

XP_016868697.1

EC 3.1.3.16

EC 3.1.3.48

XP_016868702.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277475.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277476.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277477.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277478.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277479.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277480.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277481.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277482.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277483.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277484.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277485.1

EC 3.1.3.16

EC 3.1.3.48

XP_047277486.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216011.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216012.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216013.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216014.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216015.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216016.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216017.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216018.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216019.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216020.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216021.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216022.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216023.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216024.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216025.1

EC 3.1.3.16

EC 3.1.3.48

XP_054216026.1

EC 3.1.3.16

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011735.4 RefSeqGene

Range

191025..355661

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000503.6 → NP_000494.2 eyes absent homolog 1 isoform 1

See identical proteins and their annotated locations for NP_000494.2

Status: REVIEWED

Source sequence(s)

AC016465, AC022858

Consensus CDS

CCDS34906.1

UniProtKB/Swiss-Prot

A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502

UniProtKB/TrEMBL

E7EQM5

Related

ENSP00000342626.3, ENST00000340726.8

Conserved Domains (1) summary

cd02601
Location:321 → 592

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
NM_001288574.2 → NP_001275503.1 eyes absent homolog 1 isoform 4

See identical proteins and their annotated locations for NP_001275503.1

Status: REVIEWED

Source sequence(s)

AC016465, AC022858

Consensus CDS

CCDS75750.1

UniProtKB/TrEMBL

A6NCB9, E7EQM5

Related

ENSP00000303221.7, ENST00000303824.11

Conserved Domains (2) summary

TIGR01658
Location:315 → 586

EYA-cons_domain; eyes absent protein conserved domain

pfam00702
Location:317 → 561

Hydrolase; haloacid dehalogenase-like hydrolase
NM_001288575.2 → NP_001275504.1 eyes absent homolog 1 isoform 5

See identical proteins and their annotated locations for NP_001275504.1

Status: REVIEWED

Source sequence(s)

AC016465, AC022858

UniProtKB/TrEMBL

B3KXR1

Conserved Domains (2) summary

TIGR01658
Location:199 → 470

EYA-cons_domain; eyes absent protein conserved domain

pfam00702
Location:201 → 445

Hydrolase; haloacid dehalogenase-like hydrolase
NM_001370333.1 → NP_001357262.1 eyes absent homolog 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC016465, AC022858, AC099805

Consensus CDS

CCDS94313.1

UniProtKB/TrEMBL

A0A2R8Y6K4, E7EQM5

Related

ENSP00000495390.1, ENST00000643681.1

Conserved Domains (1) summary

cd02601
Location:350 → 621

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
NM_001370334.1 → NP_001357263.1 eyes absent homolog 1 isoform 1

Status: REVIEWED

Source sequence(s)

AC016465, AC022858, AC099805

Consensus CDS

CCDS34906.1

UniProtKB/Swiss-Prot

A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502

UniProtKB/TrEMBL

E7EQM5

Related

ENSP00000494438.1, ENST00000647540.1

Conserved Domains (1) summary

cd02601
Location:321 → 592

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
NM_001370335.1 → NP_001357264.1 eyes absent homolog 1 isoform 1

Status: REVIEWED

Source sequence(s)

AC016465, AC022858, AC099805

Consensus CDS

CCDS34906.1

UniProtKB/Swiss-Prot

A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502

UniProtKB/TrEMBL

E7EQM5

Related

ENSP00000496255.1, ENST00000645793.1

Conserved Domains (1) summary

cd02601
Location:321 → 592

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
NM_001370336.1 → NP_001357265.1 eyes absent homolog 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC016465, AC022858, AC099805

Consensus CDS

CCDS94312.1

UniProtKB/TrEMBL

A0A2R8YGM9, E7EQM5

Related

ENSP00000496188.1, ENST00000644712.1

Conserved Domains (2) summary

pfam05109
Location:61 → 302

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

cd02601
Location:344 → 585

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
NM_001411797.1 → NP_001398726.1 eyes absent homolog 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC016465, AC022858

Consensus CDS

CCDS47873.1

Related

ENSP00000373393.2, ENST00000388741.7
NM_172058.4 → NP_742055.1 eyes absent homolog 1 isoform 1

See identical proteins and their annotated locations for NP_742055.1

Status: REVIEWED

Source sequence(s)

AC016465, AC022858

Consensus CDS

CCDS34906.1

UniProtKB/Swiss-Prot

A6NHQ0, G5E9R4, Q0P516, Q8WX80, Q99502

UniProtKB/TrEMBL

E7EQM5

Related

ENSP00000373394.4, ENST00000388742.8

Conserved Domains (1) summary

cd02601
Location:321 → 592

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
NM_172059.5 → NP_742056.2 eyes absent homolog 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC016465, AC022858, AC099805

Consensus CDS

CCDS34907.2

UniProtKB/TrEMBL

A0A2R8YET7, E7EQM5

Related

ENSP00000494568.1, ENST00000644229.1

Conserved Domains (2) summary

cd02601
Location:345 → 586

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

cl26464
Location:75 → 310

Atrophin-1; Atrophin-1 family
NM_172060.4 → NP_742057.1 eyes absent homolog 1 isoform 2

See identical proteins and their annotated locations for NP_742057.1

Status: REVIEWED

Source sequence(s)

AC016465, AC022858

UniProtKB/TrEMBL

E7EQM5

Related

ENSP00000373392.3, ENST00000388740.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

71197433..71548094 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421528.1 → XP_047277484.1 eyes absent homolog 1 isoform X11
XM_011517484.4 → XP_011515786.2 eyes absent homolog 1 isoform X4

UniProtKB/TrEMBL

E7EQM5
XM_047421522.1 → XP_047277478.1 eyes absent homolog 1 isoform X5
XM_047421524.1 → XP_047277480.1 eyes absent homolog 1 isoform X8
XM_047421519.1 → XP_047277475.1 eyes absent homolog 1 isoform X2
XM_047421521.1 → XP_047277477.1 eyes absent homolog 1 isoform X4
XM_047421523.1 → XP_047277479.1 eyes absent homolog 1 isoform X6
XM_017013202.2 → XP_016868691.1 eyes absent homolog 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y6K4, E7EQM5

Conserved Domains (1) summary

cd02601
Location:350 → 621

HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
XM_047421530.1 → XP_047277486.1 eyes absent homolog 1 isoform X13
XM_047421525.1 → XP_047277481.1 eyes absent homolog 1 isoform X9
XM_047421527.1 → XP_047277483.1 eyes absent homolog 1 isoform X10
XM_047421520.1 → XP_047277476.1 eyes absent homolog 1 isoform X3
XM_047421529.1 → XP_047277485.1 eyes absent homolog 1 isoform X12

Related

ENSP00000410176.1, ENST00000419131.6
XM_017013208.3 → XP_016868697.1 eyes absent homolog 1 isoform X7

UniProtKB/TrEMBL

E7EQM5, F8WB53

Related

ENSP00000373395.2, ENST00000388743.6

Conserved Domains (2) summary

TIGR01658
Location:320 → 591

EYA-cons_domain; eyes absent protein conserved domain

pfam00702
Location:322 → 566

Hydrolase; haloacid dehalogenase-like hydrolase
XM_047421526.1 → XP_047277482.1 eyes absent homolog 1 isoform X9
XM_017013213.2 → XP_016868702.1 eyes absent homolog 1 isoform X14

UniProtKB/TrEMBL

B3KXR1