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Q99502

- EYA1_HUMAN

UniProt

Q99502 - EYA1_HUMAN

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Protein

Eyes absent homolog 1

Gene

EYA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears. Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2.1 Publication

Catalytic activityi

Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.1 Publication
[a protein]-serine/threonine phosphate + H2O = [a protein]-serine/threonine + phosphate.1 Publication

Cofactori

Binds 1 Mg2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei328 – 3281NucleophileCurated
Metal bindingi328 – 3281MagnesiumBy similarity
Active sitei330 – 3301Proton donorBy similarity
Metal bindingi330 – 3301MagnesiumBy similarity
Metal bindingi556 – 5561MagnesiumBy similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. protein tyrosine phosphatase activity Source: UniProtKB
  3. RNA binding Source: Ensembl

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. aorta morphogenesis Source: Ensembl
  3. branching involved in ureteric bud morphogenesis Source: Ensembl
  4. cellular protein localization Source: Ensembl
  5. cochlea morphogenesis Source: Ensembl
  6. double-strand break repair Source: UniProtKB
  7. embryonic skeletal system morphogenesis Source: Ensembl
  8. establishment of mitotic spindle orientation Source: Ensembl
  9. establishment or maintenance of apical/basal cell polarity Source: Ensembl
  10. histone dephosphorylation Source: UniProtKB
  11. lung epithelial cell differentiation Source: Ensembl
  12. metanephros development Source: Ensembl
  13. middle ear morphogenesis Source: Ensembl
  14. negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
  15. neuron fate specification Source: Ensembl
  16. otic vesicle morphogenesis Source: Ensembl
  17. outer ear morphogenesis Source: Ensembl
  18. outflow tract morphogenesis Source: Ensembl
  19. pattern specification process Source: Ensembl
  20. pharyngeal system development Source: Ensembl
  21. positive regulation of DNA repair Source: UniProtKB
  22. positive regulation of epithelial cell proliferation Source: Ensembl
  23. positive regulation of Notch signaling pathway Source: Ensembl
  24. positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
  25. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  26. protein sumoylation Source: UniProtKB
  27. regulation of neuron differentiation Source: Ensembl
  28. response to ionizing radiation Source: UniProtKB
  29. semicircular canal morphogenesis Source: Ensembl
  30. sensory perception of sound Source: ProtInc
  31. striated muscle tissue development Source: Ensembl
  32. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Developmental protein, Hydrolase, Protein phosphatase

Keywords - Biological processi

DNA damage, DNA repair, Transcription, Transcription regulation

Keywords - Ligandi

Magnesium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Eyes absent homolog 1 (EC:3.1.3.16, EC:3.1.3.48)
Gene namesi
Name:EYA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:3519. EYA1.

Subcellular locationi

Cytoplasm. Nucleus
Note: Localizes at sites of DNA damage at double-strand breaks (DSBs).

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951P → S in BOR1. 1 Publication
VAR_064942
Natural varianti140 – 1401G → S in BOR1. 1 Publication
VAR_064943
Natural varianti363 – 3631E → V in BOR1. 1 Publication
VAR_064944
Natural varianti426 – 4261G → S in BOR1; with cataract. 1 Publication
VAR_016865
Natural varianti429 – 4291D → G in BOR1. 1 Publication
VAR_016866
Natural varianti440 – 4401R → Q in BOR1. 2 Publications
VAR_016867
Natural varianti487 – 4871S → P in BOR1. 1 Publication
VAR_005203
Natural varianti505 – 5051L → R in BOR1. 1 Publication
VAR_005204
Natural varianti514 – 5141L → P in BOR1. 1 Publication
VAR_064945
Natural varianti527 – 5271Y → C in BOR1. 1 Publication
VAR_064946
Natural varianti569 – 5691M → T in BOR1. 1 Publication
VAR_064947
Natural varianti583 – 5831L → P in BOR1. 1 Publication
VAR_016869
Otofaciocervical syndrome 1 (OFC1) [MIM:166780]: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Branchiootic syndrome 1 (BOS1) [MIM:602588]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti242 – 2421S → G in BOS1. 1 Publication
Corresponds to variant rs191838840 [ dbSNP | Ensembl ].
VAR_044452
Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti363 – 3631E → K in ASA. 1 Publication
VAR_016864
Natural varianti547 – 5471R → G in ASA; with cataract. 1 Publication
VAR_016868

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi328 – 3281D → A: Loss of tyrosine phosphatase activity toward H2AX. 1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

MIMi113650. phenotype.
166780. phenotype.
602588. phenotype.
Orphaneti107. BOR syndrome.
52429. Branchio-otic syndrome.
2792. Otofaciocervical syndrome.
PharmGKBiPA27931.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 592592Eyes absent homolog 1PRO_0000218643Add
BLAST

Post-translational modificationi

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiQ99502.
PRIDEiQ99502.

PTM databases

PhosphoSiteiQ99502.

Expressioni

Tissue specificityi

In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.

Developmental stagei

Detected in cytoplasm of somite cells at the beginning of fourth week of development. Detected in cytoplasm of limb bud cell between the sixth and eighth week of development.1 Publication

Gene expression databases

BgeeiQ99502.
CleanExiHS_EYA1.
ExpressionAtlasiQ99502. baseline and differential.
GenevestigatoriQ99502.

Interactioni

Subunit structurei

Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage. Interacts with SIX3; promotes EYA1 translocation to the nucleus.By similarity

Protein-protein interaction databases

BioGridi108439. 6 interactions.
DIPiDIP-60446N.
STRINGi9606.ENSP00000342626.

Structurei

3D structure databases

ProteinModelPortaliQ99502.
SMRiQ99502. Positions 322-592.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG297494.
GeneTreeiENSGT00390000008860.
HOGENOMiHOG000293149.
HOVERGENiHBG002447.
InParanoidiQ99502.
KOiK15616.
OMAiGQPYGIS.
OrthoDBiEOG7DNNTZ.
PhylomeDBiQ99502.
TreeFamiTF319337.

Family and domain databases

InterProiIPR006545. EYA_dom.
IPR028472. EYA_fam.
IPR028471. Eyes_absent_h1.
[Graphical view]
PANTHERiPTHR10190. PTHR10190. 1 hit.
PTHR10190:SF11. PTHR10190:SF11. 1 hit.
TIGRFAMsiTIGR01658. EYA-cons_domain. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform EYA1A (identifier: Q99502-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS
60 70 80 90 100
ETASTTADGS LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT
110 120 130 140 150
PSSQTMAAYG QTQFTTGMQQ ATAYATYPQP GQPYGISSYG ALWAGIKTEG
160 170 180 190 200
GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY SYQMQGSSFT TSSGIYTGNN
210 220 230 240 250
SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM TSSNTSPTTP
260 270 280 290 300
STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD
310 320 330 340 350
GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR
360 370 380 390 400
DPPTSVSLGL RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS
410 420 430 440 450
TYNFGTDGFP AAATSANLCL ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN
460 470 480 490 500
NVGGLLGPAK REAWLQLRAE IEALTDSWLT LALKALSLIH SRTNCVNILV
510 520 530 540 550
TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER IIQRFGRKVV
560 570 580 590
YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL
Length:592
Mass (Da):64,593
Last modified:July 15, 1998 - v2
Checksum:iD62365F81EB692E2
GO
Isoform EYA1B (identifier: Q99502-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTE → MLLFPQVA

Show »
Length:559
Mass (Da):61,211
Checksum:i6B638C22438309A8
GO
Isoform EYA1D (identifier: Q99502-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-144: Missing.
     351-380: Missing.

Show »
Length:557
Mass (Da):60,660
Checksum:i7AAB97F0AAE440CC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 331N → D in AAL73437. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201P → A.
Corresponds to variant rs1445404 [ dbSNP | Ensembl ].
VAR_024439
Natural varianti41 – 411E → K Found in a patient with congenital cataract. 1 Publication
VAR_070033
Natural varianti95 – 951P → S in BOR1. 1 Publication
VAR_064942
Natural varianti140 – 1401G → S in BOR1. 1 Publication
VAR_064943
Natural varianti242 – 2421S → G in BOS1. 1 Publication
Corresponds to variant rs191838840 [ dbSNP | Ensembl ].
VAR_044452
Natural varianti363 – 3631E → K in ASA. 1 Publication
VAR_016864
Natural varianti363 – 3631E → V in BOR1. 1 Publication
VAR_064944
Natural varianti426 – 4261G → S in BOR1; with cataract. 1 Publication
VAR_016865
Natural varianti429 – 4291D → G in BOR1. 1 Publication
VAR_016866
Natural varianti440 – 4401R → Q in BOR1. 2 Publications
VAR_016867
Natural varianti487 – 4871S → P in BOR1. 1 Publication
VAR_005203
Natural varianti505 – 5051L → R in BOR1. 1 Publication
VAR_005204
Natural varianti514 – 5141L → P in BOR1. 1 Publication
VAR_064945
Natural varianti527 – 5271Y → C in BOR1. 1 Publication
VAR_064946
Natural varianti547 – 5471R → G in ASA; with cataract. 1 Publication
VAR_016868
Natural varianti569 – 5691M → T in BOR1. 1 Publication
VAR_064947
Natural varianti583 – 5831L → P in BOR1. 1 Publication
VAR_016869

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4141MEMQD…PNGTE → MLLFPQVA in isoform EYA1B. CuratedVSP_001486Add
BLAST
Alternative sequencei140 – 1445Missing in isoform EYA1D. 1 PublicationVSP_045793
Alternative sequencei351 – 38030Missing in isoform EYA1D. 1 PublicationVSP_045794Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y10260 Genomic DNA. Translation: CAA71309.1.
AJ000097 mRNA. Translation: CAA03922.1.
AJ000098 mRNA. Translation: CAA03923.1.
AF467247 mRNA. Translation: AAL73437.1.
AC016465 Genomic DNA. No translation available.
AC022858 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW86976.1.
BC121799 mRNA. Translation: AAI21800.1.
CCDSiCCDS34906.1. [Q99502-1]
CCDS34907.1. [Q99502-3]
CCDS47873.1. [Q99502-2]
RefSeqiNP_000494.2. NM_000503.5. [Q99502-1]
NP_001275503.1. NM_001288574.1.
NP_001275504.1. NM_001288575.1.
NP_742055.1. NM_172058.3. [Q99502-1]
NP_742056.1. NM_172059.3. [Q99502-3]
NP_742057.1. NM_172060.3. [Q99502-2]
XP_006716499.1. XM_006716436.1. [Q99502-2]
UniGeneiHs.491997.

Genome annotation databases

EnsembliENST00000340726; ENSP00000342626; ENSG00000104313. [Q99502-1]
ENST00000388740; ENSP00000373392; ENSG00000104313. [Q99502-2]
ENST00000388742; ENSP00000373394; ENSG00000104313. [Q99502-1]
ENST00000419131; ENSP00000410176; ENSG00000104313. [Q99502-3]
GeneIDi2138.
KEGGihsa:2138.
UCSCiuc003xyr.4. human.
uc003xys.4. human. [Q99502-1]
uc003xyt.4. human. [Q99502-2]

Polymorphism databases

DMDMi3183005.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y10260 Genomic DNA. Translation: CAA71309.1 .
AJ000097 mRNA. Translation: CAA03922.1 .
AJ000098 mRNA. Translation: CAA03923.1 .
AF467247 mRNA. Translation: AAL73437.1 .
AC016465 Genomic DNA. No translation available.
AC022858 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW86976.1 .
BC121799 mRNA. Translation: AAI21800.1 .
CCDSi CCDS34906.1. [Q99502-1 ]
CCDS34907.1. [Q99502-3 ]
CCDS47873.1. [Q99502-2 ]
RefSeqi NP_000494.2. NM_000503.5. [Q99502-1 ]
NP_001275503.1. NM_001288574.1.
NP_001275504.1. NM_001288575.1.
NP_742055.1. NM_172058.3. [Q99502-1 ]
NP_742056.1. NM_172059.3. [Q99502-3 ]
NP_742057.1. NM_172060.3. [Q99502-2 ]
XP_006716499.1. XM_006716436.1. [Q99502-2 ]
UniGenei Hs.491997.

3D structure databases

ProteinModelPortali Q99502.
SMRi Q99502. Positions 322-592.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108439. 6 interactions.
DIPi DIP-60446N.
STRINGi 9606.ENSP00000342626.

PTM databases

PhosphoSitei Q99502.

Polymorphism databases

DMDMi 3183005.

Proteomic databases

PaxDbi Q99502.
PRIDEi Q99502.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000340726 ; ENSP00000342626 ; ENSG00000104313 . [Q99502-1 ]
ENST00000388740 ; ENSP00000373392 ; ENSG00000104313 . [Q99502-2 ]
ENST00000388742 ; ENSP00000373394 ; ENSG00000104313 . [Q99502-1 ]
ENST00000419131 ; ENSP00000410176 ; ENSG00000104313 . [Q99502-3 ]
GeneIDi 2138.
KEGGi hsa:2138.
UCSCi uc003xyr.4. human.
uc003xys.4. human. [Q99502-1 ]
uc003xyt.4. human. [Q99502-2 ]

Organism-specific databases

CTDi 2138.
GeneCardsi GC08M072159.
GeneReviewsi EYA1.
HGNCi HGNC:3519. EYA1.
MIMi 113650. phenotype.
166780. phenotype.
601653. gene.
602588. phenotype.
neXtProti NX_Q99502.
Orphaneti 107. BOR syndrome.
52429. Branchio-otic syndrome.
2792. Otofaciocervical syndrome.
PharmGKBi PA27931.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG297494.
GeneTreei ENSGT00390000008860.
HOGENOMi HOG000293149.
HOVERGENi HBG002447.
InParanoidi Q99502.
KOi K15616.
OMAi GQPYGIS.
OrthoDBi EOG7DNNTZ.
PhylomeDBi Q99502.
TreeFami TF319337.

Miscellaneous databases

GeneWikii EYA1.
GenomeRNAii 2138.
NextBioi 8639.
PROi Q99502.
SOURCEi Search...

Gene expression databases

Bgeei Q99502.
CleanExi HS_EYA1.
ExpressionAtlasi Q99502. baseline and differential.
Genevestigatori Q99502.

Family and domain databases

InterProi IPR006545. EYA_dom.
IPR028472. EYA_fam.
IPR028471. Eyes_absent_h1.
[Graphical view ]
PANTHERi PTHR10190. PTHR10190. 1 hit.
PTHR10190:SF11. PTHR10190:SF11. 1 hit.
TIGRFAMsi TIGR01658. EYA-cons_domain. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1."
    Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D., Vincent C., Levi-Acobas F., Cruaud C., le Merrer M., Mathieu M., Koenig R., Vigneron J., Weissenbach J., Petit C., Weil D.
    Hum. Mol. Genet. 6:2247-2255(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS BOR1 PRO-487 AND ARG-505.
    Tissue: Embryo.
  2. "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family."
    Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D., Vincent C., Weil D., Cruaud C., Sahly I., Leibovici M., Bitner-Glindzicz M., Francis M., Lacombe D., Vigneron J., Charachon R., Boven K., Bedbeder P., van Regemorter N., Weissenbach J., Petit C.
    Nat. Genet. 15:157-164(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM EYA1A).
    Tissue: Embryo.
  3. "EYA1D, a novel EYA1 isoform."
    Vervoort V.S., Schwartz C.E.
    Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM EYA1D), ALTERNATIVE SPLICING.
    Tissue: Kidney.
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. "BOR and BO syndromes are allelic defects of EYA1."
    Vincent C., Kalatzis V., Abdelhak S., Chaib H., Compain S., Helias J., Vaneecloo F.M., Petit C.
    Eur. J. Hum. Genet. 5:242-246(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BOS1.
  8. "Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM."
    Rickard S., Parker M., van't Hoff W., Barnicoat A., Russell-Eggitt I., Winter R.M., Bitner-Glindzicz M.
    Hum. Genet. 108:398-403(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN OFC1.
  9. Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE.
  10. "Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome."
    Estefania E., Ramirez-Camacho R., Gomar M., Trinidad A., Arellano B., Garcia-Berrocal J.R., Verdaguer J.M., Vilches C.
    Ann. Hum. Genet. 70:140-144(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN OFC1.
  11. "Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum."
    Spruijt L., Hoefsloot L.H., van Schaijk G.H.W.H., van Waardenburg D., Kremer B., Brackel H.J.L., de Die-Smulders C.E.M.
    Am. J. Med. Genet. A 140:1343-1345(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BOS1.
  12. "Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions."
    Cook P.J., Ju B.G., Telese F., Wang X., Glass C.K., Rosenfeld M.G.
    Nature 458:591-596(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, MUTAGENESIS OF ASP-328.
  13. "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing."
    Kumar S., Deffenbacher K., Cremers C.W.R.J., Van Camp G., Kimberling W.J.
    Genet. Test. 1:243-251(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BOR1 GLN-440.
  14. "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies."
    Azuma N., Hirakiyama A., Inoue T., Asaka A., Yamada M.
    Hum. Mol. Genet. 9:363-366(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASA LYS-363 AND GLY-547, VARIANT BOR1 SER-426.
  15. "Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes."
    Rickard S., Boxer M., Trompeter R., Bitner-Glindzicz M.
    J. Med. Genet. 37:623-627(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BOR1 PRO-583.
  16. "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis."
    Namba A., Abe S., Shinkawa H., Kimberling W.J., Usami S.
    J. Hum. Genet. 46:518-521(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BOR1 GLY-429.
  17. "Mutation of the EYA1 gene in patients with branchio-oto syndrome."
    Yashima T., Noguchi Y., Ishikawa K., Mizusawa H., Kitamura K.
    Acta Oto-Laryngol. 123:279-282(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BOS1 GLY-242.
  18. "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations."
    Krug P., Moriniere V., Marlin S., Koubi V., Gabriel H.D., Colin E., Bonneau D., Salomon R., Antignac C., Heidet L.
    Hum. Mutat. 32:183-190(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BOR1 SER-95; SER-140; VAL-363; GLN-440; PRO-514; CYS-527 AND THR-569.
  19. "Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."
    Reis L.M., Tyler R.C., Muheisen S., Raggio V., Salviati L., Han D.P., Costakos D., Yonath H., Hall S., Power P., Semina E.V.
    Hum. Genet. 132:761-770(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LYS-41.

Entry informationi

Entry nameiEYA1_HUMAN
AccessioniPrimary (citable) accession number: Q99502
Secondary accession number(s): A6NHQ0
, G5E9R4, Q0P516, Q8WX80
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: October 29, 2014
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3