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O95677

- EYA4_HUMAN

UniProt

O95677 - EYA4_HUMAN

Protein

Eyes absent homolog 4

Gene

EYA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    Functioni

    Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). '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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye By similarity.By similarity

    Catalytic activityi

    Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

    Cofactori

    Binds 1 Mg2+ ion per subunit.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei375 – 3751NucleophileBy similarity
    Metal bindingi375 – 3751MagnesiumBy similarity
    Active sitei377 – 3771Proton donorBy similarity
    Metal bindingi377 – 3771MagnesiumBy similarity
    Metal bindingi603 – 6031MagnesiumBy similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. protein tyrosine phosphatase activity Source: UniProtKB-EC

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. chromatin modification Source: UniProtKB-KW
    3. DNA repair Source: UniProtKB-KW
    4. inner ear development Source: Ensembl
    5. middle ear morphogenesis Source: Ensembl
    6. regulation of transcription, DNA-templated Source: UniProtKB-KW
    7. sensory perception of sound Source: Ensembl
    8. transcription, DNA-templated Source: UniProtKB-KW
    9. visual perception Source: ProtInc

    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 4 (EC:3.1.3.48)
    Gene namesi
    Name:EYA4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:3522. EYA4.

    Subcellular locationi

    Cytoplasm By similarity. Nucleus By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Cardiomyopathy, dilated 1J (CMD1J) [MIM:605362]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cardiomyopathy, Deafness, Non-syndromic deafness

    Organism-specific databases

    MIMi601316. phenotype.
    605362. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    217622. Sensorineural deafness with dilated cardiomyopathy.
    PharmGKBiPA27934.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 639639Eyes absent homolog 4PRO_0000218651Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei361 – 3611Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiO95677.
    PaxDbiO95677.
    PRIDEiO95677.

    PTM databases

    PhosphoSiteiO95677.

    Expressioni

    Tissue specificityi

    Highly expressed in heart and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiO95677.
    BgeeiO95677.
    CleanExiHS_EYA4.
    GenevestigatoriO95677.

    Organism-specific databases

    HPAiHPA004805.
    HPA038771.
    HPA038772.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000347294.

    Structurei

    3D structure databases

    ProteinModelPortaliO95677.
    SMRiO95677. Positions 369-639.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG297494.
    HOGENOMiHOG000293149.
    HOVERGENiHBG002447.
    KOiK17622.
    OrthoDBiEOG7DNNTZ.
    PhylomeDBiO95677.
    TreeFamiTF319337.

    Family and domain databases

    InterProiIPR028478. EYA4.
    IPR006545. EYA_dom.
    IPR028472. EYA_fam.
    [Graphical view]
    PANTHERiPTHR10190. PTHR10190. 1 hit.
    PTHR10190:SF17. PTHR10190:SF17. 1 hit.
    TIGRFAMsiTIGR01658. EYA-cons_domain. 1 hit.

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95677-1) [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

    MEDSQDLNEQ SVKKTCTESD VSQSQNSRSM EMQDLASPHT LVGGGDTPGS    50
    SKLEKSNLSS TSVTTNGTGG ENMTVLNTAD WLLSCNTPSS ATMSLLAVKT 100
    EPLNSSETTA TTGDGALDTF TGSVITSSGY SPRSAHQYSP QLYPSKPYPH 150
    ILSTPAAQTM SAYAGQTQYS GMQQPAVYTA YSQTGQPYSL PTYDLGVMLP 200
    AIKTESGLSQ TQSPLQSGCL SYSPGFSTPQ PGQTPYSYQM PGSSFAPSST 250
    IYANNSVSNS TNFSGSQQDY PSYTAFGQNQ YAQYYSASTY GAYMTSNNTA 300
    DGTPSSTSTY QLQESLPGLT NQPGEFDTMQ SPSTPIKDLD ERTCRSSGSK 350
    SRGRGRKNNP SPPPDSDLER VFVWDLDETI IVFHSLLTGS YAQKYGKDPP 400
    MAVTLGLRME EMIFNLADTH LFFNDLEECD QVHIDDVSSD DNGQDLSTYS 450
    FATDGFHAAA SSANLCLPTG VRGGVDWMRK LAFRYRRVKE LYNTYKNNVG 500
    GLLGPAKRDA WLQLRAEIEG LTDSWLTNAL KSLSIISTRS NCINVLVTTT 550
    QLIPALAKVL LYSLGGAFPI ENIYSATKIG KESCFERIMQ RFGRKVVYVV 600
    IGDGVEEEQA AKKHNMPFWR ISSHSDLLAL HQALELEYL 639
    Length:639
    Mass (Da):69,505
    Last modified:July 19, 2005 - v2
    Checksum:iCC59A8FB1527A0EC
    GO
    Isoform 2 (identifier: O95677-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         70-92: Missing.
         93-93: M → V

    Show »
    Length:616
    Mass (Da):67,065
    Checksum:i61BC97D2981AC16E
    GO
    Isoform 3 (identifier: O95677-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         447-452: STYSFA → RCKRRG
         453-639: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:452
    Mass (Da):48,735
    Checksum:iCE4391D2A264B937
    GO
    Isoform 4 (identifier: O95677-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         589-613: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ

    Show »
    Length:639
    Mass (Da):69,417
    Checksum:i514B81F45BD98DA2
    GO
    Isoform 5 (identifier: O95677-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         70-123: Missing.
         589-613: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ

    Show »
    Length:585
    Mass (Da):63,911
    Checksum:iF11418BAC8175189
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti177 – 1771V → A in BAH13593. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521L → R in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036248
    Natural varianti277 – 2771G → S.1 Publication
    Corresponds to variant rs9493627 [ dbSNP | Ensembl ].
    VAR_022932
    Natural varianti301 – 3011D → N in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036249

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei70 – 12354Missing in isoform 5. 1 PublicationVSP_042160Add
    BLAST
    Alternative sequencei70 – 9223Missing in isoform 2. 1 PublicationVSP_001495Add
    BLAST
    Alternative sequencei93 – 931M → V in isoform 2. 1 PublicationVSP_001496
    Alternative sequencei447 – 4526STYSFA → RCKRRG in isoform 3. CuratedVSP_001497
    Alternative sequencei453 – 639187Missing in isoform 3. CuratedVSP_001498Add
    BLAST
    Alternative sequencei589 – 61325MQRFG…QAAKK → VSRFGTNITYVVIGDGRDEE HAANQ in isoform 4 and isoform 5. 1 PublicationVSP_001499Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y17114 mRNA. Translation: CAA76636.1.
    Y17847 Genomic DNA. Translation: CAA76891.1.
    AJ007993 mRNA. Translation: CAA07816.1.
    AJ007994 mRNA. Translation: CAA07817.1.
    AK301950 mRNA. Translation: BAH13593.1.
    AL121959, AL024497, AL450270 Genomic DNA. Translation: CAB92069.2.
    AL024497, AL121959, AL450270 Genomic DNA. Translation: CAI42524.1.
    AL450270, AL024497, AL121959 Genomic DNA. Translation: CAI41272.1.
    BC041063 mRNA. Translation: AAH41063.1.
    CCDSiCCDS43506.1. [O95677-2]
    CCDS5165.1. [O95677-1]
    CCDS5166.1. [O95677-4]
    RefSeqiNP_004091.3. NM_004100.4. [O95677-1]
    NP_742101.2. NM_172103.3. [O95677-2]
    NP_742103.1. NM_172105.3. [O95677-4]
    XP_006715436.1. XM_006715373.1. [O95677-5]
    UniGeneiHs.596680.

    Genome annotation databases

    EnsembliENST00000355167; ENSP00000347294; ENSG00000112319. [O95677-4]
    ENST00000355286; ENSP00000347434; ENSG00000112319. [O95677-2]
    ENST00000367895; ENSP00000356870; ENSG00000112319. [O95677-1]
    ENST00000431403; ENSP00000404558; ENSG00000112319. [O95677-4]
    ENST00000452339; ENSP00000395916; ENSG00000112319. [O95677-5]
    GeneIDi2070.
    KEGGihsa:2070.
    UCSCiuc003qec.4. human. [O95677-1]
    uc003qed.4. human. [O95677-4]
    uc003qee.4. human. [O95677-2]
    uc011ecq.2. human. [O95677-5]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y17114 mRNA. Translation: CAA76636.1 .
    Y17847 Genomic DNA. Translation: CAA76891.1 .
    AJ007993 mRNA. Translation: CAA07816.1 .
    AJ007994 mRNA. Translation: CAA07817.1 .
    AK301950 mRNA. Translation: BAH13593.1 .
    AL121959 , AL024497 , AL450270 Genomic DNA. Translation: CAB92069.2 .
    AL024497 , AL121959 , AL450270 Genomic DNA. Translation: CAI42524.1 .
    AL450270 , AL024497 , AL121959 Genomic DNA. Translation: CAI41272.1 .
    BC041063 mRNA. Translation: AAH41063.1 .
    CCDSi CCDS43506.1. [O95677-2 ]
    CCDS5165.1. [O95677-1 ]
    CCDS5166.1. [O95677-4 ]
    RefSeqi NP_004091.3. NM_004100.4. [O95677-1 ]
    NP_742101.2. NM_172103.3. [O95677-2 ]
    NP_742103.1. NM_172105.3. [O95677-4 ]
    XP_006715436.1. XM_006715373.1. [O95677-5 ]
    UniGenei Hs.596680.

    3D structure databases

    ProteinModelPortali O95677.
    SMRi O95677. Positions 369-639.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000347294.

    PTM databases

    PhosphoSitei O95677.

    Proteomic databases

    MaxQBi O95677.
    PaxDbi O95677.
    PRIDEi O95677.

    Protocols and materials databases

    DNASUi 2070.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355167 ; ENSP00000347294 ; ENSG00000112319 . [O95677-4 ]
    ENST00000355286 ; ENSP00000347434 ; ENSG00000112319 . [O95677-2 ]
    ENST00000367895 ; ENSP00000356870 ; ENSG00000112319 . [O95677-1 ]
    ENST00000431403 ; ENSP00000404558 ; ENSG00000112319 . [O95677-4 ]
    ENST00000452339 ; ENSP00000395916 ; ENSG00000112319 . [O95677-5 ]
    GeneIDi 2070.
    KEGGi hsa:2070.
    UCSCi uc003qec.4. human. [O95677-1 ]
    uc003qed.4. human. [O95677-4 ]
    uc003qee.4. human. [O95677-2 ]
    uc011ecq.2. human. [O95677-5 ]

    Organism-specific databases

    CTDi 2070.
    GeneCardsi GC06P133563.
    GeneReviewsi EYA4.
    HGNCi HGNC:3522. EYA4.
    HPAi HPA004805.
    HPA038771.
    HPA038772.
    MIMi 601316. phenotype.
    603550. gene.
    605362. phenotype.
    neXtProti NX_O95677.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    217622. Sensorineural deafness with dilated cardiomyopathy.
    PharmGKBi PA27934.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG297494.
    HOGENOMi HOG000293149.
    HOVERGENi HBG002447.
    KOi K17622.
    OrthoDBi EOG7DNNTZ.
    PhylomeDBi O95677.
    TreeFami TF319337.

    Miscellaneous databases

    GeneWikii EYA4.
    GenomeRNAii 2070.
    NextBioi 8417.
    PROi O95677.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95677.
    Bgeei O95677.
    CleanExi HS_EYA4.
    Genevestigatori O95677.

    Family and domain databases

    InterProi IPR028478. EYA4.
    IPR006545. EYA_dom.
    IPR028472. EYA_fam.
    [Graphical view ]
    PANTHERi PTHR10190. PTHR10190. 1 hit.
    PTHR10190:SF17. PTHR10190:SF17. 1 hit.
    TIGRFAMsi TIGR01658. EYA-cons_domain. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT SER-277, ALTERNATIVE SPLICING.
      Tissue: Lens epithelium and Skeletal muscle.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
      Tissue: Testis.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 2).
      Tissue: Brain.
    5. "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus."
      Wayne S., Robertson N.G., DeClau F., Chen N., Verhoeven K., Prasad S., Tranebjaerg L., Morton C.C., Ryan A.F., Van Camp G., Smith R.J.H.
      Hum. Mol. Genet. 10:195-200(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN DFNA10.
    6. "Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss."
      Schoenberger J., Wang L., Shin J.T., Kim S.D., Depreux F.F.S., Zhu H., Zon L., Pizard A., Kim J.B., Macrae C.A., Mungall A.J., Seidman J.G., Seidman C.E.
      Nat. Genet. 37:418-422(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CMD1J, TISSUE SPECIFICITY.
    7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-361, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-152 AND ASN-301.

    Entry informationi

    Entry nameiEYA4_HUMAN
    AccessioniPrimary (citable) accession number: O95677
    Secondary accession number(s): B7Z7F7
    , O95464, O95679, Q8IW39, Q9NTR7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: July 19, 2005
    Last modified: October 1, 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 6
      Human chromosome 6: 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