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Q5T1H1 (EYS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:EYS
Synonyms:C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, SPAM
ORF Names:UNQ9424/PRO34591
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3165 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required to maintain the integrity of photoreceptor cells. Ref.2

Subcellular location

Secreted Probable. Note: Localizes in the photoreceptor cell layer. Ref.2

Tissue specificity

Present in retina. Ref.1 Ref.2

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.6 Ref.7 Ref.8

Miscellaneous

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

Sequence similarities

Belongs to the EYS family.

Contains 27 EGF-like domains.

Contains 5 laminin G-like domains.

Sequence caution

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.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: Q5T1H1-3)

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.
Isoform 1 (identifier: Q5T1H1-1)

The sequence of this isoform differs from the canonical sequence as follows:
     2691-2711: Missing.
Isoform 2 (identifier: Q5T1H1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     590-594: CSCSL → YLCII
     595-3165: Missing.
Isoform 4 (identifier: Q5T1H1-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 31653144Protein eyes shut homolog
PRO_0000337014

Regions

Domain170 – 21243EGF-like 1
Domain213 – 25442EGF-like 2
Domain256 – 29237EGF-like 3
Domain332 – 36837EGF-like 4
Domain370 – 40637EGF-like 5
Domain567 – 60236EGF-like 6
Domain643 – 67937EGF-like 7
Domain681 – 72040EGF-like 8; calcium-binding Potential
Domain733 – 76937EGF-like 9; calcium-binding Potential
Domain771 – 80737EGF-like 10; calcium-binding Potential
Domain809 – 84739EGF-like 11
Domain849 – 88840EGF-like 12
Domain890 – 92637EGF-like 13
Domain928 – 96437EGF-like 14; calcium-binding Potential
Domain966 – 100237EGF-like 15
Domain1004 – 104037EGF-like 16; calcium-binding Potential
Domain1042 – 107736EGF-like 17
Domain1079 – 111537EGF-like 18
Domain1117 – 115943EGF-like 19
Domain1161 – 119737EGF-like 20; calcium-binding Potential
Domain1883 – 2063181Laminin G-like 1
Domain2099 – 214042EGF-like 21
Domain2145 – 2339195Laminin G-like 2
Domain2335 – 236834EGF-like 22
Domain2371 – 240838EGF-like 23
Domain2419 – 2609191Laminin G-like 3
Domain2610 – 264637EGF-like 24
Domain2648 – 268942EGF-like 25
Domain2717 – 2895179Laminin G-like 4
Domain2896 – 293237EGF-like 26
Domain2933 – 297038EGF-like 27
Domain2975 – 3165191Laminin G-like 5

Amino acid modifications

Glycosylation1661N-linked (GlcNAc...) Potential
Glycosylation2691N-linked (GlcNAc...) Potential
Glycosylation2721N-linked (GlcNAc...) Potential
Glycosylation3111N-linked (GlcNAc...) Potential
Glycosylation3431N-linked (GlcNAc...) Potential
Glycosylation5061N-linked (GlcNAc...) Potential
Glycosylation5661N-linked (GlcNAc...) Potential
Glycosylation21701N-linked (GlcNAc...) Potential
Disulfide bond174 ↔ 189 By similarity
Disulfide bond183 ↔ 200 By similarity
Disulfide bond202 ↔ 211 By similarity
Disulfide bond217 ↔ 228 By similarity
Disulfide bond222 ↔ 242 By similarity
Disulfide bond244 ↔ 253 By similarity
Disulfide bond260 ↔ 270 By similarity
Disulfide bond265 ↔ 280 By similarity
Disulfide bond282 ↔ 291 By similarity
Disulfide bond341 ↔ 356 By similarity
Disulfide bond358 ↔ 367 By similarity
Disulfide bond374 ↔ 385 By similarity
Disulfide bond396 ↔ 405 By similarity
Disulfide bond575 ↔ 590 By similarity
Disulfide bond592 ↔ 601 By similarity
Disulfide bond669 ↔ 678 By similarity
Disulfide bond685 ↔ 696 By similarity
Disulfide bond690 ↔ 705 By similarity
Disulfide bond707 ↔ 719 By similarity
Disulfide bond737 ↔ 748 By similarity
Disulfide bond742 ↔ 757 By similarity
Disulfide bond759 ↔ 768 By similarity
Disulfide bond775 ↔ 786 By similarity
Disulfide bond780 ↔ 795 By similarity
Disulfide bond797 ↔ 806 By similarity
Disulfide bond813 ↔ 824 By similarity
Disulfide bond818 ↔ 835 By similarity
Disulfide bond837 ↔ 846 By similarity
Disulfide bond853 ↔ 866 By similarity
Disulfide bond860 ↔ 876 By similarity
Disulfide bond878 ↔ 887 By similarity
Disulfide bond894 ↔ 905 By similarity
Disulfide bond899 ↔ 914 By similarity
Disulfide bond916 ↔ 925 By similarity
Disulfide bond932 ↔ 943 By similarity
Disulfide bond937 ↔ 952 By similarity
Disulfide bond954 ↔ 963 By similarity
Disulfide bond970 ↔ 981 By similarity
Disulfide bond975 ↔ 990 By similarity
Disulfide bond992 ↔ 1001 By similarity
Disulfide bond1008 ↔ 1019 By similarity
Disulfide bond1013 ↔ 1028 By similarity
Disulfide bond1030 ↔ 1039 By similarity
Disulfide bond1046 ↔ 1056 By similarity
Disulfide bond1051 ↔ 1065 By similarity
Disulfide bond1067 ↔ 1076 By similarity
Disulfide bond1083 ↔ 1094 By similarity
Disulfide bond1088 ↔ 1103 By similarity
Disulfide bond1105 ↔ 1114 By similarity
Disulfide bond1121 ↔ 1137 By similarity
Disulfide bond1131 ↔ 1147 By similarity
Disulfide bond1149 ↔ 1158 By similarity
Disulfide bond1165 ↔ 1176 By similarity
Disulfide bond1170 ↔ 1185 By similarity
Disulfide bond1187 ↔ 1196 By similarity
Disulfide bond2037 ↔ 2063 By similarity
Disulfide bond2103 ↔ 2114 By similarity
Disulfide bond2108 ↔ 2128 By similarity
Disulfide bond2130 ↔ 2139 By similarity
Disulfide bond2339 ↔ 2350 By similarity
Disulfide bond2344 ↔ 2359 By similarity
Disulfide bond2375 ↔ 2386 By similarity
Disulfide bond2380 ↔ 2396 By similarity
Disulfide bond2398 ↔ 2407 By similarity
Disulfide bond2576 ↔ 2609 By similarity
Disulfide bond2614 ↔ 2625 By similarity
Disulfide bond2619 ↔ 2634 By similarity
Disulfide bond2636 ↔ 2645 By similarity
Disulfide bond2652 ↔ 2668 By similarity
Disulfide bond2662 ↔ 2677 By similarity
Disulfide bond2679 ↔ 2688 By similarity
Disulfide bond2868 ↔ 2895 By similarity
Disulfide bond2900 ↔ 2911 By similarity
Disulfide bond2905 ↔ 2920 By similarity
Disulfide bond2922 ↔ 2931 By similarity
Disulfide bond2937 ↔ 2948 By similarity
Disulfide bond2942 ↔ 2958 By similarity
Disulfide bond2960 ↔ 2969 By similarity

Natural variations

Alternative sequence590 – 5945CSCSL → YLCII in isoform 2.
VSP_035821
Alternative sequence590 – 5945CSCSL → RILNTVIPHQIQQHIERFIQ HDQVGFIVRI in isoform 4.
VSP_047161
Alternative sequence595 – 31652571Missing in isoform 2 and isoform 4.
VSP_035822
Alternative sequence2691 – 271121Missing in isoform 1.
VSP_036709
Natural variant941P → Q. Ref.8
Corresponds to variant rs111947397 [ dbSNP | Ensembl ].
VAR_063437
Natural variant1121V → I. Ref.8
Corresponds to variant rs112609906 [ dbSNP | Ensembl ].
VAR_063438
Natural variant1201T → M. Ref.5 Ref.8
Corresponds to variant rs12193967 [ dbSNP | Ensembl ].
VAR_035301
Natural variant1351T → L Requires 2 nucleotide substitutions. Ref.8
VAR_063439
Natural variant1361V → F. Ref.8
VAR_063440
Natural variant3261S → N. Ref.8
Corresponds to variant rs112822256 [ dbSNP | Ensembl ].
VAR_063441
Natural variant5321K → N. Ref.8
Corresponds to variant rs61753611 [ dbSNP | Ensembl ].
VAR_063442
Natural variant5511R → L. Ref.8
VAR_063443
Natural variant5711Q → R. Ref.8
Corresponds to variant rs61753610 [ dbSNP | Ensembl ].
VAR_063444
Natural variant6181G → S in RP25. Ref.8
Corresponds to variant rs142450703 [ dbSNP | Ensembl ].
VAR_063445
Natural variant6311G → S. Ref.8
Corresponds to variant rs9342464 [ dbSNP | Ensembl ].
VAR_063446
Natural variant6411E → V. Ref.8
Corresponds to variant rs17411795 [ dbSNP | Ensembl ].
VAR_063447
Natural variant7451N → S in RP25. Ref.7 Ref.8
VAR_063448
Natural variant8341V → I. Ref.8
Corresponds to variant rs112464110 [ dbSNP | Ensembl ].
VAR_063449
Natural variant8521L → P.
Corresponds to variant rs9294631 [ dbSNP | Ensembl ].
VAR_043561
Natural variant9381K → R. Ref.8
VAR_063450
Natural variant11101T → S in RP25. Ref.8
Corresponds to variant rs143327210 [ dbSNP | Ensembl ].
VAR_063451
Natural variant11631N → K. Ref.8
Corresponds to variant rs150951106 [ dbSNP | Ensembl ].
VAR_063452
Natural variant11761C → R in RP25. Ref.8
VAR_063453
Natural variant12321I → F in RP25. Ref.8
Corresponds to variant rs190009374 [ dbSNP | Ensembl ].
VAR_063454
Natural variant12631I → V. Ref.8
VAR_063455
Natural variant13251Q → E. Ref.8
VAR_063456
Natural variant13611I → V. Ref.8
Corresponds to variant rs17403955 [ dbSNP | Ensembl ].
VAR_063457
Natural variant13651K → E. Ref.8
Corresponds to variant rs16895519 [ dbSNP | Ensembl ].
VAR_063458
Natural variant14191L → S. Ref.8
Corresponds to variant rs624851 [ dbSNP | Ensembl ].
VAR_063459
Natural variant14511I → T. Ref.8
Corresponds to variant rs62415828 [ dbSNP | Ensembl ].
VAR_063460
Natural variant14841W → R in RP25. Ref.7
VAR_064417
Natural variant15151R → W. Ref.8
Corresponds to variant rs62415827 [ dbSNP | Ensembl ].
VAR_063461
Natural variant15171S → G. Ref.8
Corresponds to variant rs62415826 [ dbSNP | Ensembl ].
VAR_063462
Natural variant16621D → V. Ref.8
Corresponds to variant rs147641443 [ dbSNP | Ensembl ].
VAR_063463
Natural variant16641T → I. Ref.8
VAR_063464
Natural variant16821D → Y in RP25. Ref.8
Corresponds to variant rs75831552 [ dbSNP | Ensembl ].
VAR_063465
Natural variant17391P → L. Ref.8
VAR_063466
Natural variant17471E → G in RP25. Ref.8
VAR_063467
Natural variant17481L → F. Ref.8
Corresponds to variant rs57312007 [ dbSNP | Ensembl ].
VAR_063468
Natural variant18371W → S. Ref.8
VAR_063469
Natural variant18691L → M in RP25. Ref.8
VAR_063470
Natural variant18731L → V. Ref.8
Corresponds to variant rs16895517 [ dbSNP | Ensembl ].
VAR_063471
Natural variant19021N → I. Ref.8
Corresponds to variant rs9353806 [ dbSNP | Ensembl ].
VAR_063472
Natural variant19151S → G. Ref.8
Corresponds to variant rs188093810 [ dbSNP | Ensembl ].
VAR_063473
Natural variant19871T → P. Ref.7 Ref.8
VAR_063474
Natural variant19931T → A. Ref.8
Corresponds to variant rs115066356 [ dbSNP | Ensembl ].
VAR_063475
Natural variant19991I → V. Ref.8
VAR_063476
Natural variant20171G → V in RP25. Ref.7
VAR_064418
Natural variant20401V → D. Ref.7 Ref.8
VAR_063477
Natural variant21391C → Y in RP25. Ref.8
VAR_063478
Natural variant21511N → S. Ref.8
Corresponds to variant rs141603172 [ dbSNP | Ensembl ].
VAR_063479
Natural variant21891L → P in RP25. Ref.8
VAR_063480
Natural variant22111S → L in RP25; unknown pathological significance. Ref.7 Ref.8
Corresponds to variant rs145623359 [ dbSNP | Ensembl ].
VAR_063481
Natural variant23261R → Q. Ref.8
Corresponds to variant rs4710457 [ dbSNP | Ensembl ].
VAR_063482
Natural variant25031E → K in RP25. Ref.7
VAR_064419
Natural variant25561S → C. Ref.7 Ref.8
VAR_063483
Natural variant25991H → R. Ref.8
Corresponds to variant rs74636274 [ dbSNP | Ensembl ].
VAR_063484
Natural variant27571A → P. Ref.8
VAR_063485
Natural variant28291A → T in RP25. Ref.8
Corresponds to variant rs111991705 [ dbSNP | Ensembl ].
VAR_063486
Natural variant28311T → I. Ref.8
Corresponds to variant rs144513453 [ dbSNP | Ensembl ].
VAR_063487
Natural variant29111C → Y in RP25. Ref.8
VAR_063488
Natural variant29281G → E in RP25. Ref.8
VAR_063489
Natural variant29451Q → E in RP25. Ref.7
VAR_064420

Experimental info

Sequence conflict6521C → R in CAR64275. Ref.1
Sequence conflict10561C → Y in CAR64275. Ref.1
Sequence conflict11831Y → H in CAR64275. Ref.1
Sequence conflict19221Y → H in CAR64275. Ref.1
Sequence conflict24411H → R in CAR64275. Ref.1
Sequence conflict24661G → E in CAR64275. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 [UniParc].

Last modified June 28, 2011. Version 5.
Checksum: 71119473EA872B00

FASTA3,165350,796
        10         20         30         40         50         60 
MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL 

        70         80         90        100        110        120 
GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT 

       130        140        150        160        170        180 
EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS 

       190        200        210        220        230        240 
EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY 

       250        260        270        280        290        300 
ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS 

       310        320        330        340        350        360 
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP 

       370        380        390        400        410        420 
IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL 

       430        440        450        460        470        480 
NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV 

       490        500        510        520        530        540 
WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS 

       550        560        570        580        590        600 
CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL 

       610        620        630        640        650        660 
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH 

       670        680        690        700        710        720 
LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL 

       730        740        750        760        770        780 
CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC 

       790        800        810        820        830        840 
KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL 

       850        860        870        880        890        900 
YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ 

       910        920        930        940        950        960 
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG 

       970        980        990       1000       1010       1020 
PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI 

      1030       1040       1050       1060       1070       1080 
DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI 

      1090       1100       1110       1120       1130       1140 
NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG 

      1150       1160       1170       1180       1190       1200 
PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL 

      1210       1220       1230       1240       1250       1260 
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT 

      1270       1280       1290       1300       1310       1320 
YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE 

      1330       1340       1350       1360       1370       1380 
SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL 

      1390       1400       1410       1420       1430       1440 
GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR 

      1450       1460       1470       1480       1490       1500 
QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI 

      1510       1520       1530       1540       1550       1560 
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS 

      1570       1580       1590       1600       1610       1620 
MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS 

      1630       1640       1650       1660       1670       1680 
VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN 

      1690       1700       1710       1720       1730       1740 
SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS 

      1750       1760       1770       1780       1790       1800 
DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP 

      1810       1820       1830       1840       1850       1860 
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF 

      1870       1880       1890       1900       1910       1920 
TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL 

      1930       1940       1950       1960       1970       1980 
LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD 

      1990       2000       2010       2020       2030       2040 
PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV 

      2050       2060       2070       2080       2090       2100 
IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP 

      2110       2120       2130       2140       2150       2160 
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF 

      2170       2180       2190       2200       2210       2220 
LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ 

      2230       2240       2250       2260       2270       2280 
NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY 

      2290       2300       2310       2320       2330       2340 
FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA 

      2350       2360       2370       2380       2390       2400 
HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY 

      2410       2420       2430       2440       2450       2460 
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN 

      2470       2480       2490       2500       2510       2520 
LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF 

      2530       2540       2550       2560       2570       2580 
QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL 

      2590       2600       2610       2620       2630       2640 
QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW 

      2650       2660       2670       2680       2690       2700 
KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK 

      2710       2720       2730       2740       2750       2760 
PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA DGILFYAAQH 

      2770       2780       2790       2800       2810       2820 
LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN GSTWHIIKAG RVGAEGYLDL 

      2830       2840       2850       2860       2870       2880 
DGINVTEKAS TKMSSLDTNT DFYIGGVSSL NLVNPMAIEN EPVGFQGCIR QVIINNQELQ 

      2890       2900       2910       2920       2930       2940 
LTEFGAKGGS NVGDCDGTAC GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN 

      2950       2960       2970       2980       2990       3000 
LCLHQSLCIP DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF 

      3010       3020       3030       3040       3050       3060 
TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS VPMSYNNGTF 

      3070       3080       3090       3100       3110       3120 
CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL NYDGICYLGG FEYGRKVNIV 

      3130       3140       3150       3160 
TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL EGYNVYDGDE QNEVT 

« Hide

Isoform 1 [UniParc].

Checksum: A74958C9B4EF3CCC
Show »

FASTA3,144348,398
Isoform 2 [UniParc].

Checksum: E0735F7173D1BE40
Show »

FASTA59466,852
Isoform 4 [UniParc].

Checksum: 2C8C9CCC1791CBED
Show »

FASTA61969,877

References

« Hide 'large scale' references
[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]"EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa."
Abd El-Aziz M.M., Barragan I., O'Driscoll C.A., Goodstadt L., Prigmore E., Borrego S., Mena M., Pieras J.I., El-Ashry M.F., Safieh L.A., Shah A., Cheetham M.E., Carter N.P., Chakarova C., Ponting C.P., Bhattacharya S.S., Antinolo G.
Nat. Genet. 40:1285-1287(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN RP25.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa."
Barragan I., Borrego S., Pieras J.I., Gonzalez-del Pozo M., Santoyo J., Ayuso C., Baiget M., Millan J.M., Mena M., El-Aziz M.M., Audo I., Zeitz C., Littink K.W., Dopazo J., Bhattacharya S.S., Antinolo G.
Hum. Mutat. 31:E1772-E1800(2010) [PubMed] [Europe PMC] [Abstract]
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]"EYS is a major gene for rod-cone dystrophies in France."
Audo I., Sahel J.-A., Mohand-Saied S., Lancelot M.-E., Antonio A., Moskova-Doumanova V., Nandrot E.F., Doumanov J., Barragan I., Antinolo G., Bhattacharya S.S., Zeitz C.
Hum. Mutat. 31:E1406-E1435(2010) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , AL132767, AL365217, AL589916 Genomic DNA. Translation: CAM27006.1.
AL109922 expand/collapse EMBL AC list , AL137007, AL450324, AL450394 Genomic DNA. Translation: CAX15162.1. Sequence problems.
AL109922, AL137007, AL450324 Genomic DNA. Translation: CAX15163.1. Sequence problems.
AL132767 expand/collapse EMBL AC list , AL109612, AL365217, AL589916 Genomic DNA. Translation: CAM28320.1.
AL133322 Genomic DNA. No translation available.
AL137007 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , AL109612, AL132767, AL589916 Genomic DNA. Translation: CAM23289.1.
AL450319 Genomic DNA. No translation available.
AL450324 Genomic DNA. Translation: CAI13283.2. Sequence problems.
AL450394 expand/collapse EMBL AC list , AL109922, AL137007, AL450324 Genomic DNA. Translation: CAX15174.1. Sequence problems.
AL589916 expand/collapse EMBL AC list , AL109612, AL132767, AL365217 Genomic DNA. Translation: CAM13294.1.
AL590546 expand/collapse EMBL AC list , AL354913, AL354719, AL590784 Genomic DNA. Translation: CAX14957.1. Sequence problems.
AL590784 expand/collapse EMBL AC list , 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.
CCDSCCDS47445.1. [Q5T1H1-1]
CCDS47446.1. [Q5T1H1-4]
CCDS4967.1. [Q5T1H1-2]
RefSeqNP_001136272.1. NM_001142800.1. [Q5T1H1-1]
NP_001136273.1. NM_001142801.1. [Q5T1H1-4]
NP_938024.1. NM_198283.1. [Q5T1H1-2]
UniGeneHs.25067.

3D structure databases

ProteinModelPortalQ5T1H1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ5T1H1. 1 interaction.

PTM databases

PhosphoSiteQ5T1H1.

Polymorphism databases

DMDM338817908.

Proteomic databases

PaxDbQ5T1H1.
PRIDEQ5T1H1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342421; 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]
GeneID346007.
KEGGhsa:346007.
UCSCuc003per.1. human. [Q5T1H1-2]
uc011dxt.1. human. [Q5T1H1-3]
uc011dxu.1. human. [Q5T1H1-1]

Organism-specific databases

CTD346007.
GeneCardsGC06M064430.
GeneReviewsEYS.
H-InvDBHIX0025090.
HGNCHGNC:21555. EYS.
HPAHPA027103.
HPA036712.
MIM602772. phenotype.
612424. gene.
neXtProtNX_Q5T1H1.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA164719488.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
InParanoidA8MVE7.
OMAEITHAND.
OrthoDBEOG79PJN9.
PhylomeDBQ5T1H1.
TreeFamTF317565.

Gene expression databases

ArrayExpressQ5T1H1.
BgeeQ5T1H1.
GenevestigatorQ5T1H1.

Family and domain databases

Gene3D2.60.120.200. 6 hits.
InterProIPR008985. 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]
PfamPF00008. EGF. 9 hits.
PF00054. Laminin_G_1. 1 hit.
PF02210. Laminin_G_2. 4 hits.
[Graphical view]
SMARTSM00181. EGF. 18 hits.
SM00179. EGF_CA. 6 hits.
SM00282. LamG. 5 hits.
[Graphical view]
SUPFAMSSF49899. SSF49899. 6 hits.
SSF57184. SSF57184. 2 hits.
PROSITEPS00010. 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]
ProtoNetSearch...

Other

GenomeRNAi346007.
NextBio98921.
PROQ5T1H1.
SOURCESearch...

Entry information

Entry nameEYS_HUMAN
AccessionPrimary (citable) accession number: Q5T1H1
Secondary accession number(s): A2RUR2 expand/collapse secondary AC list , A8MVE7, B7TYK8, B7UUQ3, B7ZBE7, B7ZBE8, B7ZBR3, B9ZVD2, Q5SZM4, Q5T3C8, Q5T669, Q5TEL3, Q5TEL4, Q5VVG4, Q6UY05, Q9H557, Q9NQ15
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: June 28, 2011
Last modified: July 9, 2014
This is version 83 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM