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Q5T1H1

- EYS_HUMAN

UniProt

Q5T1H1 - EYS_HUMAN

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Protein
Protein eyes shut homolog
Gene
EYS, C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, SPAM, UNQ9424/PRO34591
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 Inferred
Note: Localizes in the photoreceptor cell layer.1 Publication

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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 – 2121 Reviewed prediction
Add
BLAST
Chaini22 – 31653144Protein eyes shut homolog
PRO_0000337014Add
BLAST

Amino acid modifications

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

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the EYS family.
Contains 27 EGF-like domains.

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.

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.
VSP_035821
Alternative sequencei590 – 5945CSCSL → RILNTVIPHQIQQHIERFIQ HDQVGFIVRI in isoform 4.
VSP_047161
Alternative sequencei595 – 31652571Missing in isoform 2 and isoform 4.
VSP_035822Add
BLAST
Alternative sequencei2691 – 271121Missing in isoform 1.
VSP_036709Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti652 – 6521C → R in CAR64275. 1 Publication
Sequence conflicti1056 – 10561C → Y in CAR64275. 1 Publication
Sequence conflicti1183 – 11831Y → H in CAR64275. 1 Publication
Sequence conflicti1922 – 19221Y → H in CAR64275. 1 Publication
Sequence conflicti2441 – 24411H → R in CAR64275. 1 Publication
Sequence conflicti2466 – 24661G → E in CAR64275. 1 Publication

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

« 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: July 9, 2014
This is version 83 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

Similar proteinsi