EYS
entrez
346007
canonical
uniprot
Q5T1H1
canonical
ensembl
ENSG00000188107
resolver
ensp
ENSP00000341818
resolver
ensp
ENSP00000359655
resolver
ensp
ENSP00000377042
resolver
ensp
ENSP00000424243
resolver
genesymbol
EYS
resolver
genesymbol_syn
C6orf178
resolver
genesymbol_syn
C6orf179
resolver
genesymbol_syn
C6orf180
resolver
genesymbol_syn
EGFL10
resolver
genesymbol_syn
EGFL11
resolver
genesymbol_syn
SPAM
resolver
hgnc
HGNC:21555
resolver
uniprot
A2RUR2
resolver
uniprot
A8MVE7
resolver
uniprot
B7TYK8
resolver
uniprot
B7UUQ3
resolver
uniprot
B7ZBE7
resolver
uniprot
B7ZBE8
resolver
uniprot
B7ZBR3
resolver
uniprot
B9ZVD2
resolver
uniprot
Q5SZM4
resolver
uniprot
Q5T3C8
resolver
uniprot
Q5T669
resolver
uniprot
Q5TEL3
resolver
uniprot
Q5TEL4
resolver
uniprot
Q5VVG4
resolver
uniprot
Q6UY05
resolver
uniprot
Q9H557
resolver
uniprot
Q9NQ15
resolver
uniprot_entry
EYS_HUMAN
resolver
uniprot_sec
A2RUR2
resolver
uniprot_sec
A8MVE7
resolver
uniprot_sec
B7TYK8
resolver
uniprot_sec
B7UUQ3
resolver
uniprot_sec
B7ZBE7
resolver
uniprot_sec
B7ZBE8
resolver
uniprot_sec
B7ZBR3
resolver
uniprot_sec
B9ZVD2
resolver
uniprot_sec
Q5SZM4
resolver
uniprot_sec
Q5T3C8
resolver
uniprot_sec
Q5T669
resolver
uniprot_sec
Q5TEL3
resolver
uniprot_sec
Q5TEL4
resolver
uniprot_sec
Q5VVG4
resolver
uniprot_sec
Q6UY05
resolver
uniprot_sec
Q9H557
resolver
uniprot_sec
Q9NQ15
resolver
amino_acid_sequence
MTDKSIVILSLMVFHSSFINGKTCRRQLVEEWHPQPSSYVVNWTLTENICLDFYRDCWFLGVNTKIDTSGNQAVPQICPLQIQLGDILVISSEPSLQFPEINLMNVSETSFVGCVQNTTTEDQLLFGCRLKGMHTVNSKWLSVGTHYFITVMASGPSPCPLGLRLNVTVKQQFCQESLSSEFCSGHGKCLSEAWSKTYSCHCQPPFSGKYCQELDACSFKPCKNNGSCINKRENWDEQAYECVCHPPFTGKNCSEIIGQCQPHVCFHGNCSNITSNSFICECDEQFSGPFCEVSAKPCVSLLFWKRGICPNSSSAYTYECPKGSSSQNGETDVSEFSLVPCQNGTDCIKISNDVMCICSPIFTDLLCKSIQTSCESFPLRNNATCKKCEKDYPCSCISGFTEKNCEKAIDHCKLLSINCLNEEWCFNIIGRFKYVCIPGCTKNPCWFLKNVYLIHQHLCYCGVTFHGICQDKGPAQFEYVWQLGFAGSEGEKCQGVIDAYFFLAANCTEDATYVNDPEDNNSSCWFPHEGTKEICANGCSCLSEEDSQEYRYLCFLRWAGNMYLENTTDDQENECQHEAVCKDEINRPRCSCSLSYIGRLCVVNVDYCLGNHSISVHGLCLALSHNCNCSGLQRYERNICEIDTEDCKSASCKNGTTSTHLRGYFFRKCVPGFKGTQCEIDIDECASHPCKNGATCIDQPGNYFCQCVPPFKVVDGFSCLCNPGYVGIRCEQDIDDCILNACEHNSTCKDLHLSYQCVCLSDWEGNFCEQESNECKMNPCKNNSTCTDLYKSYRCECTSGWTGQNCSEEINECDSDPCMNGGLCHESTIPGQFVCLCPPLYTGQFCHQRYNLCDLLHNPCRNNSTCLALVDANQHCICREEFEGKNCEIDVKDCLFLSCQDYGDCEDMVNNFRCICRPGFSGSLCEIEINECSSEPCKNNGTCVDLTNRFFCNCEPEYHGPFCELDVNKCKISPCLDEENCVYRTDGYNCLCAPGYTGINCEINLDECLSEPCLHDGVCIDGINHYTCDCKSGFFGTHCETNANDCLSNPCLHGRCTELINEYPCSCDADGTSTQCKIKINDCTSIPCMNEGFCQKSAHGFTCICPRGYTGAYCEKSIDNCAEPELNSVICLNGGICVDGPGHTFDCRCLPGFSGQFCEININECSSSPCLHGADCEDHINGYVCKCQPGWSGHHCENELECIPNSCVHELCMENEPGSTCLCTPGFMTCSIGLLCGDEIRRITCLTPIFQRTDPISTQTYTIPPSETLVSSFPSIKATRIPAIMDTYPVDQGPKQTGIVKHDILPTTGLATLRISTPLESYLLQELIVTRELSAKHSLLSSADVSSSRFLNFGIRDPAQIVQDKTSVSHMPIRTSAATLGFFFPDRRARTPFIMSSLMSDFIFPTQSLLFENCQTVALSATPTTSVIRSIPGADIELNRQSLLSRGFLLIAASISATPVVSRGAQEDIEEYSADSLISRREHWRLLSPSMSPIFPAKVIISKQVTILNSSALHRFSTKAFNPSEYQAITEASSNQRLTNIKSQAADSLRELSQTCATCSMTEIKSSREFSDQVLHSKQSHFYETFWMNSAILASWYALMGAQTITSGHSFSSATEITPSVAFTEVPSLFPSKKSAKRTILSSSLEESITLSSNLDVNLCLDKTCLSIVPSQTISSDLMNSDLTSKMTTDELSVSENILKLLKIRQYGITMGPTEVLNQESLLDMEKSKGSHTLFKLHPSDSSLDFELNLQIYPDVTLKTYSEITHANDFKNNLPPLTGSVPDFSEVTTNVAFYTVSATPALSIQTSSSMSVIRPDWPYFTDYMTSLKKEVKTSSEWSKWELQPSVQYQEFPTASRHLPFTRSLTLSSLESILAPQRLMISDFSCVRYYGDSYLEFQNVALNPQNNISLEFQTFSSYGLLLYVKQDSNLVDGFFIQLFIENGTLKYHFYCPGEAKFKSINTTVRVDNGQKYTLLIRQELDPCNAELTILGRNTQICESINHVLGKPLPKSGSVFIGGFPDLHGKIQMPVPVKNFTGCIEVIEINNWRSFIPSKAVKNYHINNCRSQGFMLSPTASFVDASDVTQGVDTMWTSVSPSVAAPSVCQQDVCHNGGTCHAIFLSSGIVSFQCDCPLHFTGRFCEKDAGLFFPSFNGNSYLELPFLKFVLEKEHNRTVTIYLTIKTNSLNGTILYSNGNNCGKQFLHLFLVEGRPSVKYGCGNSQNILTVSANYSINTNAFTPITIRYTTPVGSPGVVCMIEMTADGKPPVQKKDTEISHASQAYFESMFLGHIPANVQIHKKAGPVYGFRGCILDLQVNNKEFFIIDEARHGKNIENCHVPWCAHHLCRNNGTCISDNENLFCECPRLYSGKLCQFASCENNPCGNGATCVPKSGTDIVCLCPYGRSGPLCTDAINITQPRFSGTDAFGYTSFLAYSRISDISFHYEFHLKFQLANNHSALQNNLIFFTGQKGHGLNGDDFLAVGLLNGSVVYSYNLGSGIASIRSEPLNLSLGVHTVHLGKFFQEGWLKVDDHKNKSIIAPGRLVGLNVFSQFYVGGYSEYTPDLLPNGADFKNGFQGCIFTLQVRTEKDGHFRGLGNPEGHPNAGRSVGQCHASPCSLMKCGNGGTCIESGTSVYCNCTTGWKGSFCTETVSTCDPEHDPPHHCSRGATCISLPHGYTCFCPLGTTGIYCEQALILIVILEKPKPAERKVKKEALSISDPSFRSNELSWMSFASFHVRKKTHIQLQFQPLAADGILFYAAQHLKAQSGDFLCISLVNSSVQLRYNLGDRTIILETLQKVTINGSTWHIIKAGRVGAEGYLDLDGINVTEKASTKMSSLDTNTDFYIGGVSSLNLVNPMAIENEPVGFQGCIRQVIINNQELQLTEFGAKGGSNVGDCDGTACGYNTCRNGGECTVNGTTFSCRCLPDWAGNTCNQSVSCLNNLCLHQSLCIPDQSFSYSCLCTLGWVGRYCENKTSFSTAKFMGNSYIKYIDPNYRMRNLQFTTISLNFSTTKTEGLIVWMGIAQNEENDFLAIGLHNQTLKIAVNLGERISVPMSYNNGTFCCNKWHHVVVIQNQTLIKAYINNSLILSEDIDPHKNFVALNYDGICYLGGFEYGRKVNIVTQEIFKTNFVGKIKDVVFFQEPKNIELIKLEGYNVYDGDEQNEVT
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:18836446, ECO:0000269|PubMed:18976725, ECO:0000269|PubMed:20333770, ECO:0000269|PubMed:20696082, ECO:0000269|PubMed:21069908}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity). {ECO:0000250|UniProtKB:B8JI71, ECO:0000269|PubMed:18836446}.
uniprot
proteins
mass_dalton
350796
uniprot
proteins
protein_family
EYS family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18836446
uniprot
proteins
pubmed
18976725
uniprot
proteins
pubmed
20333770
uniprot
proteins
pubmed
20696082
uniprot
proteins
pubmed
21069908
uniprot
proteins
pubmed
26593283
uniprot
proteins
pubmed
27737822
uniprot
proteins
pubmed
27846257
uniprot
proteins
sequence_length
3165
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:27737822}. Cell projection, cilium {ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:27846257}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27846257}. Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix {ECO:0000269|PubMed:27737822}. Note=Localizes to discrete puncta at, or adjacent to, the photoreceptor connecting cilium (PubMed:27737822). Highly expressed in cone photoreceptor outer segments (PubMed:27737822). Weakly expressed in rod photoreceptor outer segments (By similarity). May localize to the cilium axoneme (PubMed:27846257). May also be secreted into the interphotoreceptor extracellular matrix (PubMed:27737822). {ECO:0000250|UniProtKB:A0A2K5V015, ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}.
uniprot
proteins