Seroatlas · Human Serome Atlas

EYS

Protein eyes shut homolog

Also known as: bA166P24.2, bA307F22.3, bA74E24.1, C6orf178, C6orf179, C6orf180, dJ1018A4.2, dJ303F19.1, EGFL10, EGFL11, EYS_HUMAN, RP25, SPAM

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5T1H1
Gene: EYS
Ensembl: ENSG00000188107
Chromosome: 6
Canonical length: 3165 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Plasma membrane,Cytosol,Flagellar centriole
Secretome location: Secreted in other tissues

OverviewNCBI Gene

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

3165 residues, UniProt reviewed canonical sequence.

>Q5T1H1|EYS
     1  MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
    61  GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
   121  EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
   181  EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
   241  ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
   301  LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
   361  IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
   421  NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
   481  WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
   541  CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
   601  CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
   661  LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
   721  CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
   781  KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
   841  YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
   901  DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
   961  PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
  1021  DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
  1081  NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
  1141  PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
  1201  ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
  1261  YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
  1321  SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
  1381  GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
  1441  QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
  1501  ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
  1561  MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
  1621  VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
  1681  SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
  1741  DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
  1801  ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
  1861  TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
  1921  LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
  1981  PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
  2041  IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
  2101  SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
  2161  LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
  2221  NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
  2281  FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA
  2341  HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
  2401  GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
  2461  LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
  2521  QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
  2581  QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
  2641  KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK
  2701  PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA DGILFYAAQH
  2761  LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN GSTWHIIKAG RVGAEGYLDL
  2821  DGINVTEKAS TKMSSLDTNT DFYIGGVSSL NLVNPMAIEN EPVGFQGCIR QVIINNQELQ
  2881  LTEFGAKGGS NVGDCDGTAC GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN
  2941  LCLHQSLCIP DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF
  3001  TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS VPMSYNNGTF
  3061  CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL NYDGICYLGG FEYGRKVNIV
  3121  TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL EGYNVYDGDE QNEVT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EYS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0
Highest tissue expression: 23 nTPM

Expression across tissuesHPA

Tissue

retina: 23 nTPM
adipose tissue: 0.6 nTPM
testis: 0.6 nTPM
rectum: 0.5 nTPM
bone marrow: 0.2 nTPM
breast: 0.2 nTPM

Single-cell type

cone photoreceptor cells: 6,631 nCPM
rod photoreceptor cells: 4,151 nCPM
neuroendocrine cells: 425 nCPM
adipocytes: 354 nCPM
epicardial cells: 346 nCPM
late primary spermatocytes: 208 nCPM

Immune cell

basophil: 1.1 nTPM
neutrophil: 0.9 nTPM
total PBMC: 0.3 nTPM
classical monocyte: 0.2 nTPM
gdT-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM

Brain region

cerebral cortex: 4 nTPM
cerebellum: 3.8 nTPM
pons: 3.6 nTPM
hippocampal formation: 3.4 nTPM
amygdala: 3.3 nTPM
basal ganglia: 3.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EYS.

Disease | AllUniProt

Conditions EYS is implicated in, by any mechanism.

Retinitis pigmentosa 25 (RP25) MIM:602772

Disease | GeneticClinVar

1,086 pathogenic / likely-pathogenic of 5,153 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa 25
Retinal dystrophy
Retinitis pigmentosa
EYS-related disorder
Retinitis pigmentosa 40

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.83
gnomAD pLI: 0
gnomAD missense Z: 0.32
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

calcium ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EYS as an antibody target. Whether an autoantibody or antibody against EYS could matter depends on whether native EYS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EYS is annotated as secreted, so native EYS circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label EYS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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