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Q5T1H1

- EYS_HUMAN

UniProt

Q5T1H1 - EYS_HUMAN

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Protein

Protein eyes shut homolog

Gene

EYS

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ5T1H1.
ExpressionAtlasiQ5T1H1. baseline and differential.
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.
GeneTreeiENSGT00530000063501.
InParanoidiQ5T1H1.
OMAiEITHAND.
OrthoDBiEOG79PJN9.
PhylomeDBiQ5T1H1.
TreeFamiTF317565.

Family and domain databases

Gene3Di2.60.120.200. 6 hits.
InterProiIPR013320. ConA-like_dom.
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

        10         20         30         40         50
MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC
60 70 80 90 100
LDFYRDCWFL GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE
110 120 130 140 150
INLMNVSETS FVGCVQNTTT EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT
160 170 180 190 200
VMASGPSPCP LGLRLNVTVK QQFCQESLSS EFCSGHGKCL SEAWSKTYSC
210 220 230 240 250
HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY ECVCHPPFTG
260 270 280 290 300
KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
310 320 330 340 350
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI
360 370 380 390 400
SNDVMCICSP IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF
410 420 430 440 450
TEKNCEKAID HCKLLSINCL NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN
460 470 480 490 500
VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV WQLGFAGSEG EKCQGVIDAY
510 520 530 540 550
FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS CLSEEDSQEY
560 570 580 590 600
RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
610 620 630 640 650
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA
660 670 680 690 700
SCKNGTTSTH LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP
710 720 730 740 750
GNYFCQCVPP FKVVDGFSCL CNPGYVGIRC EQDIDDCILN ACEHNSTCKD
760 770 780 790 800
LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC KNNSTCTDLY KSYRCECTSG
810 820 830 840 850
WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL YTGQFCHQRY
860 870 880 890 900
NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
910 920 930 940 950
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF
960 970 980 990 1000
FCNCEPEYHG PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN
1010 1020 1030 1040 1050
CEINLDECLS EPCLHDGVCI DGINHYTCDC KSGFFGTHCE TNANDCLSNP
1060 1070 1080 1090 1100
CLHGRCTELI NEYPCSCDAD GTSTQCKIKI NDCTSIPCMN EGFCQKSAHG
1110 1120 1130 1140 1150
FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG PGHTFDCRCL
1160 1170 1180 1190 1200
PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
1210 1220 1230 1240 1250
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF
1260 1270 1280 1290 1300
QRTDPISTQT YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV
1310 1320 1330 1340 1350
KHDILPTTGL ATLRISTPLE SYLLQELIVT RELSAKHSLL SSADVSSSRF
1360 1370 1380 1390 1400
LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL GFFFPDRRAR TPFIMSSLMS
1410 1420 1430 1440 1450
DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR QSLLSRGFLL
1460 1470 1480 1490 1500
IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
1510 1520 1530 1540 1550
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR
1560 1570 1580 1590 1600
ELSQTCATCS MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM
1610 1620 1630 1640 1650
GAQTITSGHS FSSATEITPS VAFTEVPSLF PSKKSAKRTI LSSSLEESIT
1660 1670 1680 1690 1700
LSSNLDVNLC LDKTCLSIVP SQTISSDLMN SDLTSKMTTD ELSVSENILK
1710 1720 1730 1740 1750
LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS DSSLDFELNL
1760 1770 1780 1790 1800
QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
1810 1820 1830 1840 1850
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE
1860 1870 1880 1890 1900
FPTASRHLPF TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA
1910 1920 1930 1940 1950
LNPQNNISLE FQTFSSYGLL LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC
1960 1970 1980 1990 2000
PGEAKFKSIN TTVRVDNGQK YTLLIRQELD PCNAELTILG RNTQICESIN
2010 2020 2030 2040 2050
HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV IEINNWRSFI
2060 2070 2080 2090 2100
PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
2110 2120 2130 2140 2150
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF
2160 2170 2180 2190 2200
NGNSYLELPF LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF
2210 2220 2230 2240 2250
LHLFLVEGRP SVKYGCGNSQ NILTVSANYS INTNAFTPIT IRYTTPVGSP
2260 2270 2280 2290 2300
GVVCMIEMTA DGKPPVQKKD TEISHASQAY FESMFLGHIP ANVQIHKKAG
2310 2320 2330 2340 2350
PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA HHLCRNNGTC
2360 2370 2380 2390 2400
ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
2410 2420 2430 2440 2450
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL
2460 2470 2480 2490 2500
ANNHSALQNN LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI
2510 2520 2530 2540 2550
RSEPLNLSLG VHTVHLGKFF QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF
2560 2570 2580 2590 2600
YVGGYSEYTP DLLPNGADFK NGFQGCIFTL QVRTEKDGHF RGLGNPEGHP
2610 2620 2630 2640 2650
NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW KGSFCTETVS
2660 2670 2680 2690 2700
TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK
2710 2720 2730 2740 2750
PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA
2760 2770 2780 2790 2800
DGILFYAAQH LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN
2810 2820 2830 2840 2850
GSTWHIIKAG RVGAEGYLDL DGINVTEKAS TKMSSLDTNT DFYIGGVSSL
2860 2870 2880 2890 2900
NLVNPMAIEN EPVGFQGCIR QVIINNQELQ LTEFGAKGGS NVGDCDGTAC
2910 2920 2930 2940 2950
GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN LCLHQSLCIP
2960 2970 2980 2990 3000
DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF
3010 3020 3030 3040 3050
TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS
3060 3070 3080 3090 3100
VPMSYNNGTF CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL
3110 3120 3130 3140 3150
NYDGICYLGG FEYGRKVNIV TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL
3160
EGYNVYDGDE QNEVT
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. Curated
The sequence CAX13915.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX14957.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX15136.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX15162.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX15163.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX15174.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX15210.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAX15211.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

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:
EMBLi
GenBanki
DDBJi
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_001278938.1. NM_001292009.1. [Q5T1H1-3]
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. [Q5T1H1-1]
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:
EMBLi
GenBanki
DDBJi
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_001278938.1. NM_001292009.1. [Q5T1H1-3 ]
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 . [Q5T1H1-1 ]
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.
GeneTreei ENSGT00530000063501.
InParanoidi Q5T1H1.
OMAi EITHAND.
OrthoDBi EOG79PJN9.
PhylomeDBi Q5T1H1.
TreeFami TF317565.

Miscellaneous databases

ChiTaRSi EYS. human.
GenomeRNAii 346007.
NextBioi 98921.
PROi Q5T1H1.
SOURCEi Search...

Gene expression databases

Bgeei Q5T1H1.
ExpressionAtlasi Q5T1H1. baseline and differential.
Genevestigatori Q5T1H1.

Family and domain databases

Gene3Di 2.60.120.200. 6 hits.
InterProi IPR013320. ConA-like_dom.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 86 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