Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q5T1H1

- EYS_HUMAN

UniProt

Q5T1H1 - EYS_HUMAN

Protein

Protein eyes shut homolog

Gene

EYS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 5 (28 Jun 2011)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Required to maintain the integrity of photoreceptor cells.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. detection of light stimulus involved in visual perception Source: UniProt
    2. skeletal muscle tissue regeneration Source: UniProt

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Calcium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein eyes shut homolog
    Alternative name(s):
    Epidermal growth factor-like protein 10
    Short name:
    EGF-like protein 10
    Epidermal growth factor-like protein 11
    Short name:
    EGF-like protein 11
    Protein spacemaker homolog
    Gene namesi
    Name:EYS
    Synonyms:C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, SPAM
    ORF Names:UNQ9424/PRO34591
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21555. EYS.

    Subcellular locationi

    Secreted 1 Publication
    Note: Localizes in the photoreceptor cell layer.

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 25 (RP25) [MIM:602772]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti618 – 6181G → S in RP25. 1 Publication
    Corresponds to variant rs142450703 [ dbSNP | Ensembl ].
    VAR_063445
    Natural varianti745 – 7451N → S in RP25. 2 Publications
    VAR_063448
    Natural varianti1110 – 11101T → S in RP25. 1 Publication
    Corresponds to variant rs143327210 [ dbSNP | Ensembl ].
    VAR_063451
    Natural varianti1176 – 11761C → R in RP25. 1 Publication
    VAR_063453
    Natural varianti1232 – 12321I → F in RP25. 1 Publication
    Corresponds to variant rs190009374 [ dbSNP | Ensembl ].
    VAR_063454
    Natural varianti1484 – 14841W → R in RP25. 1 Publication
    VAR_064417
    Natural varianti1682 – 16821D → Y in RP25. 1 Publication
    Corresponds to variant rs75831552 [ dbSNP | Ensembl ].
    VAR_063465
    Natural varianti1747 – 17471E → G in RP25. 1 Publication
    VAR_063467
    Natural varianti1869 – 18691L → M in RP25. 1 Publication
    VAR_063470
    Natural varianti2017 – 20171G → V in RP25. 1 Publication
    VAR_064418
    Natural varianti2139 – 21391C → Y in RP25. 1 Publication
    VAR_063478
    Natural varianti2189 – 21891L → P in RP25. 1 Publication
    VAR_063480
    Natural varianti2211 – 22111S → L in RP25; unknown pathological significance. 2 Publications
    Corresponds to variant rs145623359 [ dbSNP | Ensembl ].
    VAR_063481
    Natural varianti2503 – 25031E → K in RP25. 1 Publication
    VAR_064419
    Natural varianti2829 – 28291A → T in RP25. 1 Publication
    Corresponds to variant rs111991705 [ dbSNP | Ensembl ].
    VAR_063486
    Natural varianti2911 – 29111C → Y in RP25. 1 Publication
    VAR_063488
    Natural varianti2928 – 29281G → E in RP25. 1 Publication
    VAR_063489
    Natural varianti2945 – 29451Q → E in RP25. 1 Publication
    VAR_064420

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi602772. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA164719488.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 31653144Protein eyes shut homologPRO_0000337014Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi174 ↔ 189By similarity
    Disulfide bondi183 ↔ 200By similarity
    Disulfide bondi202 ↔ 211By similarity
    Disulfide bondi217 ↔ 228By similarity
    Disulfide bondi222 ↔ 242By similarity
    Disulfide bondi244 ↔ 253By similarity
    Disulfide bondi260 ↔ 270By similarity
    Disulfide bondi265 ↔ 280By similarity
    Glycosylationi269 – 2691N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi272 – 2721N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi282 ↔ 291By similarity
    Glycosylationi311 – 3111N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi341 ↔ 356By similarity
    Glycosylationi343 – 3431N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi358 ↔ 367By similarity
    Disulfide bondi374 ↔ 385By similarity
    Disulfide bondi396 ↔ 405By similarity
    Glycosylationi506 – 5061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi566 – 5661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi575 ↔ 590By similarity
    Disulfide bondi592 ↔ 601By similarity
    Disulfide bondi669 ↔ 678By similarity
    Disulfide bondi685 ↔ 696By similarity
    Disulfide bondi690 ↔ 705By similarity
    Disulfide bondi707 ↔ 719By similarity
    Disulfide bondi737 ↔ 748By similarity
    Disulfide bondi742 ↔ 757By similarity
    Disulfide bondi759 ↔ 768By similarity
    Disulfide bondi775 ↔ 786By similarity
    Disulfide bondi780 ↔ 795By similarity
    Disulfide bondi797 ↔ 806By similarity
    Disulfide bondi813 ↔ 824By similarity
    Disulfide bondi818 ↔ 835By similarity
    Disulfide bondi837 ↔ 846By similarity
    Disulfide bondi853 ↔ 866By similarity
    Disulfide bondi860 ↔ 876By similarity
    Disulfide bondi878 ↔ 887By similarity
    Disulfide bondi894 ↔ 905By similarity
    Disulfide bondi899 ↔ 914By similarity
    Disulfide bondi916 ↔ 925By similarity
    Disulfide bondi932 ↔ 943By similarity
    Disulfide bondi937 ↔ 952By similarity
    Disulfide bondi954 ↔ 963By similarity
    Disulfide bondi970 ↔ 981By similarity
    Disulfide bondi975 ↔ 990By similarity
    Disulfide bondi992 ↔ 1001By similarity
    Disulfide bondi1008 ↔ 1019By similarity
    Disulfide bondi1013 ↔ 1028By similarity
    Disulfide bondi1030 ↔ 1039By similarity
    Disulfide bondi1046 ↔ 1056By similarity
    Disulfide bondi1051 ↔ 1065By similarity
    Disulfide bondi1067 ↔ 1076By similarity
    Disulfide bondi1083 ↔ 1094By similarity
    Disulfide bondi1088 ↔ 1103By similarity
    Disulfide bondi1105 ↔ 1114By similarity
    Disulfide bondi1121 ↔ 1137By similarity
    Disulfide bondi1131 ↔ 1147By similarity
    Disulfide bondi1149 ↔ 1158By similarity
    Disulfide bondi1165 ↔ 1176By similarity
    Disulfide bondi1170 ↔ 1185By similarity
    Disulfide bondi1187 ↔ 1196By similarity
    Disulfide bondi2037 ↔ 2063By similarity
    Disulfide bondi2103 ↔ 2114By similarity
    Disulfide bondi2108 ↔ 2128By similarity
    Disulfide bondi2130 ↔ 2139By similarity
    Glycosylationi2170 – 21701N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi2339 ↔ 2350By similarity
    Disulfide bondi2344 ↔ 2359By similarity
    Disulfide bondi2375 ↔ 2386By similarity
    Disulfide bondi2380 ↔ 2396By similarity
    Disulfide bondi2398 ↔ 2407By similarity
    Disulfide bondi2576 ↔ 2609By similarity
    Disulfide bondi2614 ↔ 2625By similarity
    Disulfide bondi2619 ↔ 2634By similarity
    Disulfide bondi2636 ↔ 2645By similarity
    Disulfide bondi2652 ↔ 2668By similarity
    Disulfide bondi2662 ↔ 2677By similarity
    Disulfide bondi2679 ↔ 2688By similarity
    Disulfide bondi2868 ↔ 2895By similarity
    Disulfide bondi2900 ↔ 2911By similarity
    Disulfide bondi2905 ↔ 2920By similarity
    Disulfide bondi2922 ↔ 2931By similarity
    Disulfide bondi2937 ↔ 2948By similarity
    Disulfide bondi2942 ↔ 2958By similarity
    Disulfide bondi2960 ↔ 2969By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ5T1H1.
    PRIDEiQ5T1H1.

    PTM databases

    PhosphoSiteiQ5T1H1.

    Expressioni

    Tissue specificityi

    Present in retina.2 Publications

    Gene expression databases

    ArrayExpressiQ5T1H1.
    BgeeiQ5T1H1.
    GenevestigatoriQ5T1H1.

    Organism-specific databases

    HPAiHPA027103.
    HPA036712.

    Interactioni

    Protein-protein interaction databases

    IntActiQ5T1H1. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5T1H1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini170 – 21243EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini213 – 25442EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini256 – 29237EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini332 – 36837EGF-like 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini370 – 40637EGF-like 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini567 – 60236EGF-like 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini643 – 67937EGF-like 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini681 – 72040EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini733 – 76937EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini771 – 80737EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini809 – 84739EGF-like 11PROSITE-ProRule annotationAdd
    BLAST
    Domaini849 – 88840EGF-like 12PROSITE-ProRule annotationAdd
    BLAST
    Domaini890 – 92637EGF-like 13PROSITE-ProRule annotationAdd
    BLAST
    Domaini928 – 96437EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini966 – 100237EGF-like 15PROSITE-ProRule annotationAdd
    BLAST
    Domaini1004 – 104037EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1042 – 107736EGF-like 17PROSITE-ProRule annotationAdd
    BLAST
    Domaini1079 – 111537EGF-like 18PROSITE-ProRule annotationAdd
    BLAST
    Domaini1117 – 115943EGF-like 19PROSITE-ProRule annotationAdd
    BLAST
    Domaini1161 – 119737EGF-like 20; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1883 – 2063181Laminin G-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini2099 – 214042EGF-like 21PROSITE-ProRule annotationAdd
    BLAST
    Domaini2145 – 2339195Laminin G-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini2335 – 236834EGF-like 22PROSITE-ProRule annotationAdd
    BLAST
    Domaini2371 – 240838EGF-like 23PROSITE-ProRule annotationAdd
    BLAST
    Domaini2419 – 2609191Laminin G-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini2610 – 264637EGF-like 24PROSITE-ProRule annotationAdd
    BLAST
    Domaini2648 – 268942EGF-like 25PROSITE-ProRule annotationAdd
    BLAST
    Domaini2717 – 2895179Laminin G-like 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini2896 – 293237EGF-like 26PROSITE-ProRule annotationAdd
    BLAST
    Domaini2933 – 297038EGF-like 27PROSITE-ProRule annotationAdd
    BLAST
    Domaini2975 – 3165191Laminin G-like 5PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the EYS family.Curated
    Contains 27 EGF-like domains.PROSITE-ProRule annotation
    Contains 5 laminin G-like domains.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG12793.
    InParanoidiA8MVE7.
    OMAiEITHAND.
    OrthoDBiEOG79PJN9.
    PhylomeDBiQ5T1H1.
    TreeFamiTF317565.

    Family and domain databases

    Gene3Di2.60.120.200. 6 hits.
    InterProiIPR008985. ConA-like_lec_gl_sf.
    IPR013320. ConA-like_subgrp.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR001791. Laminin_G.
    [Graphical view]
    PfamiPF00008. EGF. 9 hits.
    PF00054. Laminin_G_1. 1 hit.
    PF02210. Laminin_G_2. 4 hits.
    [Graphical view]
    SMARTiSM00181. EGF. 18 hits.
    SM00179. EGF_CA. 6 hits.
    SM00282. LamG. 5 hits.
    [Graphical view]
    SUPFAMiSSF49899. SSF49899. 6 hits.
    SSF57184. SSF57184. 2 hits.
    PROSITEiPS00010. ASX_HYDROXYL. 7 hits.
    PS00022. EGF_1. 23 hits.
    PS01186. EGF_2. 15 hits.
    PS50026. EGF_3. 27 hits.
    PS01187. EGF_CA. 6 hits.
    PS50025. LAM_G_DOMAIN. 5 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q5T1H1-3) [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

    MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC     50
    LDFYRDCWFL GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE 100
    INLMNVSETS FVGCVQNTTT EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT 150
    VMASGPSPCP LGLRLNVTVK QQFCQESLSS EFCSGHGKCL SEAWSKTYSC 200
    HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY ECVCHPPFTG 250
    KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS 300
    LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI 350
    SNDVMCICSP IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF 400
    TEKNCEKAID HCKLLSINCL NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN 450
    VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV WQLGFAGSEG EKCQGVIDAY 500
    FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS CLSEEDSQEY 550
    RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL 600
    CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA 650
    SCKNGTTSTH LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP 700
    GNYFCQCVPP FKVVDGFSCL CNPGYVGIRC EQDIDDCILN ACEHNSTCKD 750
    LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC KNNSTCTDLY KSYRCECTSG 800
    WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL YTGQFCHQRY 850
    NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ 900
    DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF 950
    FCNCEPEYHG PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN 1000
    CEINLDECLS EPCLHDGVCI DGINHYTCDC KSGFFGTHCE TNANDCLSNP 1050
    CLHGRCTELI NEYPCSCDAD GTSTQCKIKI NDCTSIPCMN EGFCQKSAHG 1100
    FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG PGHTFDCRCL 1150
    PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL 1200
    ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF 1250
    QRTDPISTQT YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV 1300
    KHDILPTTGL ATLRISTPLE SYLLQELIVT RELSAKHSLL SSADVSSSRF 1350
    LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL GFFFPDRRAR TPFIMSSLMS 1400
    DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR QSLLSRGFLL 1450
    IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI 1500
    ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR 1550
    ELSQTCATCS MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM 1600
    GAQTITSGHS FSSATEITPS VAFTEVPSLF PSKKSAKRTI LSSSLEESIT 1650
    LSSNLDVNLC LDKTCLSIVP SQTISSDLMN SDLTSKMTTD ELSVSENILK 1700
    LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS DSSLDFELNL 1750
    QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP 1800
    ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE 1850
    FPTASRHLPF TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA 1900
    LNPQNNISLE FQTFSSYGLL LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC 1950
    PGEAKFKSIN TTVRVDNGQK YTLLIRQELD PCNAELTILG RNTQICESIN 2000
    HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV IEINNWRSFI 2050
    PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP 2100
    SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF 2150
    NGNSYLELPF LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF 2200
    LHLFLVEGRP SVKYGCGNSQ NILTVSANYS INTNAFTPIT IRYTTPVGSP 2250
    GVVCMIEMTA DGKPPVQKKD TEISHASQAY FESMFLGHIP ANVQIHKKAG 2300
    PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA HHLCRNNGTC 2350
    ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY 2400
    GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL 2450
    ANNHSALQNN LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI 2500
    RSEPLNLSLG VHTVHLGKFF QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF 2550
    YVGGYSEYTP DLLPNGADFK NGFQGCIFTL QVRTEKDGHF RGLGNPEGHP 2600
    NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW KGSFCTETVS 2650
    TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK 2700
    PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA 2750
    DGILFYAAQH LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN 2800
    GSTWHIIKAG RVGAEGYLDL DGINVTEKAS TKMSSLDTNT DFYIGGVSSL 2850
    NLVNPMAIEN EPVGFQGCIR QVIINNQELQ LTEFGAKGGS NVGDCDGTAC 2900
    GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN LCLHQSLCIP 2950
    DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF 3000
    TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS 3050
    VPMSYNNGTF CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL 3100
    NYDGICYLGG FEYGRKVNIV TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL 3150
    EGYNVYDGDE QNEVT 3165
    Length:3,165
    Mass (Da):350,796
    Last modified:June 28, 2011 - v5
    Checksum:i71119473EA872B00
    GO
    Isoform 1 (identifier: Q5T1H1-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2691-2711: Missing.

    Show »
    Length:3,144
    Mass (Da):348,398
    Checksum:iA74958C9B4EF3CCC
    GO
    Isoform 2 (identifier: Q5T1H1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         590-594: CSCSL → YLCII
         595-3165: Missing.

    Show »
    Length:594
    Mass (Da):66,852
    Checksum:iE0735F7173D1BE40
    GO
    Isoform 4 (identifier: Q5T1H1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         590-594: CSCSL → RILNTVIPHQIQQHIERFIQHDQVGFIVRI
         595-3165: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:619
    Mass (Da):69,877
    Checksum:i2C8C9CCC1791CBED
    GO

    Sequence cautioni

    The sequence CAI13283.2 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX13915.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX14957.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX15136.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX15162.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX15163.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX15174.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX15210.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAX15211.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti652 – 6521C → R in CAR64275. (PubMed:18976725)Curated
    Sequence conflicti1056 – 10561C → Y in CAR64275. (PubMed:18976725)Curated
    Sequence conflicti1183 – 11831Y → H in CAR64275. (PubMed:18976725)Curated
    Sequence conflicti1922 – 19221Y → H in CAR64275. (PubMed:18976725)Curated
    Sequence conflicti2441 – 24411H → R in CAR64275. (PubMed:18976725)Curated
    Sequence conflicti2466 – 24661G → E in CAR64275. (PubMed:18976725)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 941P → Q.1 Publication
    Corresponds to variant rs111947397 [ dbSNP | Ensembl ].
    VAR_063437
    Natural varianti112 – 1121V → I.1 Publication
    Corresponds to variant rs112609906 [ dbSNP | Ensembl ].
    VAR_063438
    Natural varianti120 – 1201T → M.2 Publications
    Corresponds to variant rs12193967 [ dbSNP | Ensembl ].
    VAR_035301
    Natural varianti135 – 1351T → L Requires 2 nucleotide substitutions. 1 Publication
    VAR_063439
    Natural varianti136 – 1361V → F.1 Publication
    VAR_063440
    Natural varianti326 – 3261S → N.1 Publication
    Corresponds to variant rs112822256 [ dbSNP | Ensembl ].
    VAR_063441
    Natural varianti532 – 5321K → N.1 Publication
    Corresponds to variant rs61753611 [ dbSNP | Ensembl ].
    VAR_063442
    Natural varianti551 – 5511R → L.1 Publication
    VAR_063443
    Natural varianti571 – 5711Q → R.1 Publication
    Corresponds to variant rs61753610 [ dbSNP | Ensembl ].
    VAR_063444
    Natural varianti618 – 6181G → S in RP25. 1 Publication
    Corresponds to variant rs142450703 [ dbSNP | Ensembl ].
    VAR_063445
    Natural varianti631 – 6311G → S.1 Publication
    Corresponds to variant rs9342464 [ dbSNP | Ensembl ].
    VAR_063446
    Natural varianti641 – 6411E → V.1 Publication
    Corresponds to variant rs17411795 [ dbSNP | Ensembl ].
    VAR_063447
    Natural varianti745 – 7451N → S in RP25. 2 Publications
    VAR_063448
    Natural varianti834 – 8341V → I.1 Publication
    Corresponds to variant rs112464110 [ dbSNP | Ensembl ].
    VAR_063449
    Natural varianti852 – 8521L → P.
    Corresponds to variant rs9294631 [ dbSNP | Ensembl ].
    VAR_043561
    Natural varianti938 – 9381K → R.1 Publication
    VAR_063450
    Natural varianti1110 – 11101T → S in RP25. 1 Publication
    Corresponds to variant rs143327210 [ dbSNP | Ensembl ].
    VAR_063451
    Natural varianti1163 – 11631N → K.1 Publication
    Corresponds to variant rs150951106 [ dbSNP | Ensembl ].
    VAR_063452
    Natural varianti1176 – 11761C → R in RP25. 1 Publication
    VAR_063453
    Natural varianti1232 – 12321I → F in RP25. 1 Publication
    Corresponds to variant rs190009374 [ dbSNP | Ensembl ].
    VAR_063454
    Natural varianti1263 – 12631I → V.1 Publication
    VAR_063455
    Natural varianti1325 – 13251Q → E.1 Publication
    VAR_063456
    Natural varianti1361 – 13611I → V.1 Publication
    Corresponds to variant rs17403955 [ dbSNP | Ensembl ].
    VAR_063457
    Natural varianti1365 – 13651K → E.1 Publication
    Corresponds to variant rs16895519 [ dbSNP | Ensembl ].
    VAR_063458
    Natural varianti1419 – 14191L → S.1 Publication
    Corresponds to variant rs624851 [ dbSNP | Ensembl ].
    VAR_063459
    Natural varianti1451 – 14511I → T.1 Publication
    Corresponds to variant rs62415828 [ dbSNP | Ensembl ].
    VAR_063460
    Natural varianti1484 – 14841W → R in RP25. 1 Publication
    VAR_064417
    Natural varianti1515 – 15151R → W.1 Publication
    Corresponds to variant rs62415827 [ dbSNP | Ensembl ].
    VAR_063461
    Natural varianti1517 – 15171S → G.1 Publication
    Corresponds to variant rs62415826 [ dbSNP | Ensembl ].
    VAR_063462
    Natural varianti1662 – 16621D → V.1 Publication
    Corresponds to variant rs147641443 [ dbSNP | Ensembl ].
    VAR_063463
    Natural varianti1664 – 16641T → I.1 Publication
    VAR_063464
    Natural varianti1682 – 16821D → Y in RP25. 1 Publication
    Corresponds to variant rs75831552 [ dbSNP | Ensembl ].
    VAR_063465
    Natural varianti1739 – 17391P → L.1 Publication
    VAR_063466
    Natural varianti1747 – 17471E → G in RP25. 1 Publication
    VAR_063467
    Natural varianti1748 – 17481L → F.1 Publication
    Corresponds to variant rs57312007 [ dbSNP | Ensembl ].
    VAR_063468
    Natural varianti1837 – 18371W → S.1 Publication
    VAR_063469
    Natural varianti1869 – 18691L → M in RP25. 1 Publication
    VAR_063470
    Natural varianti1873 – 18731L → V.1 Publication
    Corresponds to variant rs16895517 [ dbSNP | Ensembl ].
    VAR_063471
    Natural varianti1902 – 19021N → I.1 Publication
    Corresponds to variant rs9353806 [ dbSNP | Ensembl ].
    VAR_063472
    Natural varianti1915 – 19151S → G.1 Publication
    Corresponds to variant rs188093810 [ dbSNP | Ensembl ].
    VAR_063473
    Natural varianti1987 – 19871T → P.2 Publications
    VAR_063474
    Natural varianti1993 – 19931T → A.1 Publication
    Corresponds to variant rs115066356 [ dbSNP | Ensembl ].
    VAR_063475
    Natural varianti1999 – 19991I → V.1 Publication
    VAR_063476
    Natural varianti2017 – 20171G → V in RP25. 1 Publication
    VAR_064418
    Natural varianti2040 – 20401V → D.2 Publications
    VAR_063477
    Natural varianti2139 – 21391C → Y in RP25. 1 Publication
    VAR_063478
    Natural varianti2151 – 21511N → S.1 Publication
    Corresponds to variant rs141603172 [ dbSNP | Ensembl ].
    VAR_063479
    Natural varianti2189 – 21891L → P in RP25. 1 Publication
    VAR_063480
    Natural varianti2211 – 22111S → L in RP25; unknown pathological significance. 2 Publications
    Corresponds to variant rs145623359 [ dbSNP | Ensembl ].
    VAR_063481
    Natural varianti2326 – 23261R → Q.1 Publication
    Corresponds to variant rs4710457 [ dbSNP | Ensembl ].
    VAR_063482
    Natural varianti2503 – 25031E → K in RP25. 1 Publication
    VAR_064419
    Natural varianti2556 – 25561S → C.2 Publications
    VAR_063483
    Natural varianti2599 – 25991H → R.1 Publication
    Corresponds to variant rs74636274 [ dbSNP | Ensembl ].
    VAR_063484
    Natural varianti2757 – 27571A → P.1 Publication
    VAR_063485
    Natural varianti2829 – 28291A → T in RP25. 1 Publication
    Corresponds to variant rs111991705 [ dbSNP | Ensembl ].
    VAR_063486
    Natural varianti2831 – 28311T → I.1 Publication
    Corresponds to variant rs144513453 [ dbSNP | Ensembl ].
    VAR_063487
    Natural varianti2911 – 29111C → Y in RP25. 1 Publication
    VAR_063488
    Natural varianti2928 – 29281G → E in RP25. 1 Publication
    VAR_063489
    Natural varianti2945 – 29451Q → E in RP25. 1 Publication
    VAR_064420

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei590 – 5945CSCSL → YLCII in isoform 2. 2 PublicationsVSP_035821
    Alternative sequencei590 – 5945CSCSL → RILNTVIPHQIQQHIERFIQ HDQVGFIVRI in isoform 4. CuratedVSP_047161
    Alternative sequencei595 – 31652571Missing in isoform 2 and isoform 4. 2 PublicationsVSP_035822Add
    BLAST
    Alternative sequencei2691 – 271121Missing in isoform 1. 1 PublicationVSP_036709Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FM209056 mRNA. Translation: CAR64275.1.
    FJ416331 mRNA. Translation: ACJ37365.1.
    AY358133 mRNA. Translation: AAQ88500.1.
    AL050329 Genomic DNA. Translation: CAB99359.1.
    AL078597 Genomic DNA. No translation available.
    AL109612
    , AL132767, AL365217, AL589916 Genomic DNA. Translation: CAM27006.1.
    AL109922
    , AL137007, AL450324, AL450394 Genomic DNA. Translation: CAX15162.1. Sequence problems.
    AL109922, AL137007, AL450324 Genomic DNA. Translation: CAX15163.1. Sequence problems.
    AL132767
    , AL109612, AL365217, AL589916 Genomic DNA. Translation: CAM28320.1.
    AL133322 Genomic DNA. No translation available.
    AL137007
    , AL109922, AL450324, AL450394 Genomic DNA. Translation: CAX15210.1. Sequence problems.
    AL137007, AL109922, AL450324 Genomic DNA. Translation: CAX15211.1. Sequence problems.
    AL353669 Genomic DNA. No translation available.
    AL354913
    , AL354719, AL590546, AL590784 Genomic DNA. Translation: CAX13915.1. Sequence problems.
    AL353153 Genomic DNA. No translation available.
    AL355357 Genomic DNA. No translation available.
    AL356454 Genomic DNA. No translation available.
    AL357375 Genomic DNA. No translation available.
    AL365217
    , AL109612, AL132767, AL589916 Genomic DNA. Translation: CAM23289.1.
    AL450319 Genomic DNA. No translation available.
    AL450324 Genomic DNA. Translation: CAI13283.2. Sequence problems.
    AL450394
    , AL109922, AL137007, AL450324 Genomic DNA. Translation: CAX15174.1. Sequence problems.
    AL589916
    , AL109612, AL132767, AL365217 Genomic DNA. Translation: CAM13294.1.
    AL590546
    , AL354913, AL354719, AL590784 Genomic DNA. Translation: CAX14957.1. Sequence problems.
    AL590784
    , AL354913, AL354719, AL590546 Genomic DNA. Translation: CAX15136.1. Sequence problems.
    AL603767 Genomic DNA. No translation available.
    BC133011 mRNA. Translation: AAI33012.1.
    BC133013 mRNA. Translation: AAI33014.1.
    CCDSiCCDS47445.1. [Q5T1H1-1]
    CCDS47446.1. [Q5T1H1-4]
    CCDS4967.1. [Q5T1H1-2]
    RefSeqiNP_001136272.1. NM_001142800.1. [Q5T1H1-1]
    NP_001136273.1. NM_001142801.1. [Q5T1H1-4]
    NP_938024.1. NM_198283.1. [Q5T1H1-2]
    UniGeneiHs.25067.

    Genome annotation databases

    EnsembliENST00000342421; ENSP00000341818; ENSG00000188107. [Q5T1H1-2]
    ENST00000370616; ENSP00000359650; ENSG00000188107. [Q5T1H1-3]
    ENST00000370618; ENSP00000359652; ENSG00000188107. [Q5T1H1-2]
    ENST00000370621; ENSP00000359655; ENSG00000188107. [Q5T1H1-3]
    ENST00000393380; ENSP00000377042; ENSG00000188107. [Q5T1H1-4]
    ENST00000503581; ENSP00000424243; ENSG00000188107. [Q5T1H1-1]
    GeneIDi346007.
    KEGGihsa:346007.
    UCSCiuc003per.1. human. [Q5T1H1-2]
    uc011dxt.1. human. [Q5T1H1-3]
    uc011dxu.1. human. [Q5T1H1-1]

    Polymorphism databases

    DMDMi338817908.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FM209056 mRNA. Translation: CAR64275.1 .
    FJ416331 mRNA. Translation: ACJ37365.1 .
    AY358133 mRNA. Translation: AAQ88500.1 .
    AL050329 Genomic DNA. Translation: CAB99359.1 .
    AL078597 Genomic DNA. No translation available.
    AL109612
    , AL132767 , AL365217 , AL589916 Genomic DNA. Translation: CAM27006.1 .
    AL109922
    , AL137007 , AL450324 , AL450394 Genomic DNA. Translation: CAX15162.1 . Sequence problems.
    AL109922 , AL137007 , AL450324 Genomic DNA. Translation: CAX15163.1 . Sequence problems.
    AL132767
    , AL109612 , AL365217 , AL589916 Genomic DNA. Translation: CAM28320.1 .
    AL133322 Genomic DNA. No translation available.
    AL137007
    , AL109922 , AL450324 , AL450394 Genomic DNA. Translation: CAX15210.1 . Sequence problems.
    AL137007 , AL109922 , AL450324 Genomic DNA. Translation: CAX15211.1 . Sequence problems.
    AL353669 Genomic DNA. No translation available.
    AL354913
    , AL354719 , AL590546 , AL590784 Genomic DNA. Translation: CAX13915.1 . Sequence problems.
    AL353153 Genomic DNA. No translation available.
    AL355357 Genomic DNA. No translation available.
    AL356454 Genomic DNA. No translation available.
    AL357375 Genomic DNA. No translation available.
    AL365217
    , AL109612 , AL132767 , AL589916 Genomic DNA. Translation: CAM23289.1 .
    AL450319 Genomic DNA. No translation available.
    AL450324 Genomic DNA. Translation: CAI13283.2 . Sequence problems.
    AL450394
    , AL109922 , AL137007 , AL450324 Genomic DNA. Translation: CAX15174.1 . Sequence problems.
    AL589916
    , AL109612 , AL132767 , AL365217 Genomic DNA. Translation: CAM13294.1 .
    AL590546
    , AL354913 , AL354719 , AL590784 Genomic DNA. Translation: CAX14957.1 . Sequence problems.
    AL590784
    , AL354913 , AL354719 , AL590546 Genomic DNA. Translation: CAX15136.1 . Sequence problems.
    AL603767 Genomic DNA. No translation available.
    BC133011 mRNA. Translation: AAI33012.1 .
    BC133013 mRNA. Translation: AAI33014.1 .
    CCDSi CCDS47445.1. [Q5T1H1-1 ]
    CCDS47446.1. [Q5T1H1-4 ]
    CCDS4967.1. [Q5T1H1-2 ]
    RefSeqi NP_001136272.1. NM_001142800.1. [Q5T1H1-1 ]
    NP_001136273.1. NM_001142801.1. [Q5T1H1-4 ]
    NP_938024.1. NM_198283.1. [Q5T1H1-2 ]
    UniGenei Hs.25067.

    3D structure databases

    ProteinModelPortali Q5T1H1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q5T1H1. 1 interaction.

    PTM databases

    PhosphoSitei Q5T1H1.

    Polymorphism databases

    DMDMi 338817908.

    Proteomic databases

    PaxDbi Q5T1H1.
    PRIDEi Q5T1H1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000342421 ; ENSP00000341818 ; ENSG00000188107 . [Q5T1H1-2 ]
    ENST00000370616 ; ENSP00000359650 ; ENSG00000188107 . [Q5T1H1-3 ]
    ENST00000370618 ; ENSP00000359652 ; ENSG00000188107 . [Q5T1H1-2 ]
    ENST00000370621 ; ENSP00000359655 ; ENSG00000188107 . [Q5T1H1-3 ]
    ENST00000393380 ; ENSP00000377042 ; ENSG00000188107 . [Q5T1H1-4 ]
    ENST00000503581 ; ENSP00000424243 ; ENSG00000188107 . [Q5T1H1-1 ]
    GeneIDi 346007.
    KEGGi hsa:346007.
    UCSCi uc003per.1. human. [Q5T1H1-2 ]
    uc011dxt.1. human. [Q5T1H1-3 ]
    uc011dxu.1. human. [Q5T1H1-1 ]

    Organism-specific databases

    CTDi 346007.
    GeneCardsi GC06M064430.
    GeneReviewsi EYS.
    H-InvDB HIX0025090.
    HGNCi HGNC:21555. EYS.
    HPAi HPA027103.
    HPA036712.
    MIMi 602772. phenotype.
    612424. gene.
    neXtProti NX_Q5T1H1.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA164719488.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    InParanoidi A8MVE7.
    OMAi EITHAND.
    OrthoDBi EOG79PJN9.
    PhylomeDBi Q5T1H1.
    TreeFami TF317565.

    Miscellaneous databases

    GenomeRNAii 346007.
    NextBioi 98921.
    PROi Q5T1H1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5T1H1.
    Bgeei Q5T1H1.
    Genevestigatori Q5T1H1.

    Family and domain databases

    Gene3Di 2.60.120.200. 6 hits.
    InterProi IPR008985. ConA-like_lec_gl_sf.
    IPR013320. ConA-like_subgrp.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR001791. Laminin_G.
    [Graphical view ]
    Pfami PF00008. EGF. 9 hits.
    PF00054. Laminin_G_1. 1 hit.
    PF02210. Laminin_G_2. 4 hits.
    [Graphical view ]
    SMARTi SM00181. EGF. 18 hits.
    SM00179. EGF_CA. 6 hits.
    SM00282. LamG. 5 hits.
    [Graphical view ]
    SUPFAMi SSF49899. SSF49899. 6 hits.
    SSF57184. SSF57184. 2 hits.
    PROSITEi PS00010. ASX_HYDROXYL. 7 hits.
    PS00022. EGF_1. 23 hits.
    PS01186. EGF_2. 15 hits.
    PS50026. EGF_3. 27 hits.
    PS01187. EGF_CA. 6 hits.
    PS50025. LAM_G_DOMAIN. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa."
      Collin R.W.J., Littink K.W., Klevering B.J., van den Born L.I., Koenekoop R.K., Zonneveld M.N., Blokland E.A.W., Strom T.M., Hoyng C.B., den Hollander A.I., Cremers F.P.M.
      Am. J. Hum. Genet. 83:594-603(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, INVOLVEMENT IN RP25.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN RP25.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    4. "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].
    5. "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), VARIANT MET-120.
    6. "Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa."
      Huang Y., Zhang J., Li C., Yang G., Liu M., Wang Q.K., Tang Z.
      BMC Med. Genet. 11:121-121(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RP25.
    7. Cited for: VARIANTS RP25 SER-745; ARG-1484; VAL-2017; LEU-2211; LYS-2503 AND GLU-2945, VARIANTS PRO-1987; ASP-2040 AND CYS-2556.
    8. Cited for: VARIANTS RP25 SER-618; SER-745; SER-1110; ARG-1176; PHE-1232; TYR-1682; GLY-1747; MET-1869; TYR-2139; PRO-2189; LEU-2211; THR-2829; TYR-2911 AND GLU-2928, VARIANTS GLN-94; ILE-112; MET-120; LEU-135; PHE-136; ASN-326; ASN-532; LEU-551; ARG-571; SER-631; VAL-641; ILE-834; ARG-938; LYS-1163; VAL-1263; GLU-1325; VAL-1361; GLU-1365; SER-1419; THR-1451; TRP-1515; GLY-1517; VAL-1662; ILE-1664; LEU-1739; PHE-1748; SER-1837; VAL-1873; ILE-1902; GLY-1915; PRO-1987; ALA-1993; VAL-1999; ASP-2040; SER-2151; GLN-2326; CYS-2556; ARG-2599; PRO-2757 AND ILE-2831.

    Entry informationi

    Entry nameiEYS_HUMAN
    AccessioniPrimary (citable) accession number: Q5T1H1
    Secondary accession number(s): A2RUR2
    , A8MVE7, B7TYK8, B7UUQ3, B7ZBE7, B7ZBE8, B7ZBR3, B9ZVD2, Q5SZM4, Q5T3C8, Q5T669, Q5TEL3, Q5TEL4, Q5VVG4, Q6UY05, Q9H557, Q9NQ15
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: June 28, 2011
    Last modified: October 1, 2014
    This is version 84 of the entry and version 5 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

    Miscellaneous

    Although the protein is conserved in Drosophila, the gene encoding the orthologous protein is inactive in rodents.

    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