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Entry version 121 (08 May 2019)
Sequence version 5 (28 Jun 2011)
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Protein

Protein eyes shut homolog

Gene

EYS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity1 Publication

Miscellaneous

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision
LigandCalcium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EYS
Synonyms:C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, SPAM
ORF Names:UNQ9424/PRO34591
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21555 EYS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612424 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5T1H1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 25 (RP25)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063445618G → S in RP25. 1 PublicationCorresponds to variant dbSNP:rs142450703EnsemblClinVar.1
Natural variantiVAR_063448745N → S in RP25. 2 PublicationsCorresponds to variant dbSNP:rs201652272EnsemblClinVar.1
Natural variantiVAR_0634511110T → S in RP25. 1 PublicationCorresponds to variant dbSNP:rs143327210EnsemblClinVar.1
Natural variantiVAR_0634531176C → R in RP25. 1 Publication1
Natural variantiVAR_0634541232I → F in RP25. 1 PublicationCorresponds to variant dbSNP:rs190009374Ensembl.1
Natural variantiVAR_0644171484W → R in RP25. 1 PublicationCorresponds to variant dbSNP:rs1260400598Ensembl.1
Natural variantiVAR_0634651682D → Y in RP25. 1 PublicationCorresponds to variant dbSNP:rs75831552EnsemblClinVar.1
Natural variantiVAR_0634671747E → G in RP25. 1 PublicationCorresponds to variant dbSNP:rs535663619Ensembl.1
Natural variantiVAR_0634701869L → M in RP25. 1 Publication1
Natural variantiVAR_0644182017G → V in RP25. 1 PublicationCorresponds to variant dbSNP:rs868349465Ensembl.1
Natural variantiVAR_0634782139C → Y in RP25. 1 PublicationCorresponds to variant dbSNP:rs749909863EnsemblClinVar.1
Natural variantiVAR_0634802189L → P in RP25. 1 Publication1
Natural variantiVAR_0634812211S → L in RP25; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs145623359EnsemblClinVar.1
Natural variantiVAR_0644192503E → K in RP25. 1 PublicationCorresponds to variant dbSNP:rs768964978EnsemblClinVar.1
Natural variantiVAR_0634862829A → T in RP25. 1 PublicationCorresponds to variant dbSNP:rs111991705Ensembl.1
Natural variantiVAR_0634882911C → Y in RP25. 1 Publication1
Natural variantiVAR_0634892928G → E in RP25. 1 Publication1
Natural variantiVAR_0644202945Q → E in RP25. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
346007

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
EYS

MalaCards human disease database

More...
MalaCardsi
EYS
MIMi602772 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000188107

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164719488

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EYS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
338817908

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000033701422 – 3165Protein eyes shut homologAdd BLAST3144

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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
Glycosylationi269N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi272N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi282 ↔ 291By similarity
Glycosylationi311N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi341 ↔ 356By similarity
Glycosylationi343N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi358 ↔ 367By similarity
Disulfide bondi374 ↔ 385By similarity
Disulfide bondi396 ↔ 405By similarity
Glycosylationi506N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi566N-linked (GlcNAc...) asparagineSequence analysis1
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
Glycosylationi2170N-linked (GlcNAc...) asparagineSequence analysis1
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

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5T1H1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5T1H1

PeptideAtlas

More...
PeptideAtlasi
Q5T1H1

PRoteomics IDEntifications database

More...
PRIDEi
Q5T1H1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
64263
64264 [Q5T1H1-1]
64265 [Q5T1H1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5T1H1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5T1H1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in retina (at protein level) (PubMed:18976725, PubMed:18836446, PubMed:27737822, PubMed:27846257). Isoform 1: Detected in retina (PubMed:27846257). Isoform 2: Detected in retina (PubMed:27846257). Isoform 3: Strongly expressed in retina and testis (PubMed:27846257). Isoform 4: Strongly expressed in testis, and weakly expressed in retina (PubMed:27846257).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000188107 Expressed in 85 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5T1H1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5T1H1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA027103

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
131371, 1 interactor

Protein interaction database and analysis system

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IntActi
Q5T1H1, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000424243

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5T1H1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini170 – 212EGF-like 1PROSITE-ProRule annotationAdd BLAST43
Domaini213 – 254EGF-like 2PROSITE-ProRule annotationAdd BLAST42
Domaini256 – 292EGF-like 3PROSITE-ProRule annotationAdd BLAST37
Domaini332 – 368EGF-like 4PROSITE-ProRule annotationAdd BLAST37
Domaini370 – 406EGF-like 5PROSITE-ProRule annotationAdd BLAST37
Domaini567 – 602EGF-like 6PROSITE-ProRule annotationAdd BLAST36
Domaini643 – 679EGF-like 7PROSITE-ProRule annotationAdd BLAST37
Domaini681 – 720EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini733 – 769EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini771 – 807EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini809 – 847EGF-like 11PROSITE-ProRule annotationAdd BLAST39
Domaini849 – 888EGF-like 12PROSITE-ProRule annotationAdd BLAST40
Domaini890 – 926EGF-like 13PROSITE-ProRule annotationAdd BLAST37
Domaini928 – 964EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini966 – 1002EGF-like 15PROSITE-ProRule annotationAdd BLAST37
Domaini1004 – 1040EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini1042 – 1077EGF-like 17PROSITE-ProRule annotationAdd BLAST36
Domaini1079 – 1115EGF-like 18PROSITE-ProRule annotationAdd BLAST37
Domaini1117 – 1159EGF-like 19PROSITE-ProRule annotationAdd BLAST43
Domaini1161 – 1197EGF-like 20; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini1883 – 2063Laminin G-like 1PROSITE-ProRule annotationAdd BLAST181
Domaini2099 – 2140EGF-like 21PROSITE-ProRule annotationAdd BLAST42
Domaini2145 – 2339Laminin G-like 2PROSITE-ProRule annotationAdd BLAST195
Domaini2335 – 2368EGF-like 22PROSITE-ProRule annotationAdd BLAST34
Domaini2371 – 2408EGF-like 23PROSITE-ProRule annotationAdd BLAST38
Domaini2419 – 2609Laminin G-like 3PROSITE-ProRule annotationAdd BLAST191
Domaini2610 – 2646EGF-like 24PROSITE-ProRule annotationAdd BLAST37
Domaini2648 – 2689EGF-like 25PROSITE-ProRule annotationAdd BLAST42
Domaini2717 – 2895Laminin G-like 4PROSITE-ProRule annotationAdd BLAST179
Domaini2896 – 2932EGF-like 26PROSITE-ProRule annotationAdd BLAST37
Domaini2933 – 2970EGF-like 27PROSITE-ProRule annotationAdd BLAST38
Domaini2975 – 3165Laminin G-like 5PROSITE-ProRule annotationAdd BLAST191

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EYS family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217 Eukaryota
KOG3509 Eukaryota
ENOG410XS9U LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163729

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000139621

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5T1H1

KEGG Orthology (KO)

More...
KOi
K19601

Identification of Orthologs from Complete Genome Data

More...
OMAi
HCEVDVA

Database of Orthologous Groups

More...
OrthoDBi
115967at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5T1H1

TreeFam database of animal gene trees

More...
TreeFami
TF317565

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 10 hits
PF12661 hEGF, 4 hits
PF02210 Laminin_G_2, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 28 hits
SM00179 EGF_CA, 20 hits
SM00282 LamG, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 5 hits
SSF57184 SSF57184, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 41 Publication (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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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 31 Publication (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 21 Publication (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.

Show »
Length:619
Mass (Da):69,877
Checksum:i2C8C9CCC1791CBED
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3Q4H0Y3Q4_HUMAN
Protein eyes shut homolog
EYS
473Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WDD3F8WDD3_HUMAN
Protein eyes shut homolog
EYS
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti652C → R in CAR64275 (PubMed:18976725).Curated1
Sequence conflicti1056C → Y in CAR64275 (PubMed:18976725).Curated1
Sequence conflicti1183Y → H in CAR64275 (PubMed:18976725).Curated1
Sequence conflicti1922Y → H in CAR64275 (PubMed:18976725).Curated1
Sequence conflicti2441H → R in CAR64275 (PubMed:18976725).Curated1
Sequence conflicti2466G → E in CAR64275 (PubMed:18976725).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06343794P → Q1 PublicationCorresponds to variant dbSNP:rs111947397EnsemblClinVar.1
Natural variantiVAR_063438112V → I1 PublicationCorresponds to variant dbSNP:rs112609906EnsemblClinVar.1
Natural variantiVAR_035301120T → M2 PublicationsCorresponds to variant dbSNP:rs12193967EnsemblClinVar.1
Natural variantiVAR_063439135T → L Requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_063440136V → F1 PublicationCorresponds to variant dbSNP:rs543011021Ensembl.1
Natural variantiVAR_063441326S → N1 PublicationCorresponds to variant dbSNP:rs112822256EnsemblClinVar.1
Natural variantiVAR_063442532K → N1 PublicationCorresponds to variant dbSNP:rs61753611Ensembl.1
Natural variantiVAR_063443551R → L1 Publication1
Natural variantiVAR_063444571Q → R1 PublicationCorresponds to variant dbSNP:rs61753610EnsemblClinVar.1
Natural variantiVAR_063445618G → S in RP25. 1 PublicationCorresponds to variant dbSNP:rs142450703EnsemblClinVar.1
Natural variantiVAR_063446631G → S1 PublicationCorresponds to variant dbSNP:rs9342464EnsemblClinVar.1
Natural variantiVAR_063447641E → V1 PublicationCorresponds to variant dbSNP:rs17411795EnsemblClinVar.1
Natural variantiVAR_063448745N → S in RP25. 2 PublicationsCorresponds to variant dbSNP:rs201652272EnsemblClinVar.1
Natural variantiVAR_063449834V → I1 PublicationCorresponds to variant dbSNP:rs112464110EnsemblClinVar.1
Natural variantiVAR_043561852L → P. Corresponds to variant dbSNP:rs9294631EnsemblClinVar.1
Natural variantiVAR_063450938K → R1 PublicationCorresponds to variant dbSNP:rs367857088EnsemblClinVar.1
Natural variantiVAR_0634511110T → S in RP25. 1 PublicationCorresponds to variant dbSNP:rs143327210EnsemblClinVar.1
Natural variantiVAR_0634521163N → K1 PublicationCorresponds to variant dbSNP:rs150951106EnsemblClinVar.1
Natural variantiVAR_0634531176C → R in RP25. 1 Publication1
Natural variantiVAR_0634541232I → F in RP25. 1 PublicationCorresponds to variant dbSNP:rs190009374Ensembl.1
Natural variantiVAR_0634551263I → V1 PublicationCorresponds to variant dbSNP:rs17404123EnsemblClinVar.1
Natural variantiVAR_0634561325Q → E1 PublicationCorresponds to variant dbSNP:rs12663622EnsemblClinVar.1
Natural variantiVAR_0634571361I → V1 PublicationCorresponds to variant dbSNP:rs17403955EnsemblClinVar.1
Natural variantiVAR_0634581365K → E1 PublicationCorresponds to variant dbSNP:rs16895519EnsemblClinVar.1
Natural variantiVAR_0634591419L → S1 PublicationCorresponds to variant dbSNP:rs624851EnsemblClinVar.1
Natural variantiVAR_0634601451I → T1 PublicationCorresponds to variant dbSNP:rs62415828EnsemblClinVar.1
Natural variantiVAR_0644171484W → R in RP25. 1 PublicationCorresponds to variant dbSNP:rs1260400598Ensembl.1
Natural variantiVAR_0634611515R → W1 PublicationCorresponds to variant dbSNP:rs62415827EnsemblClinVar.1
Natural variantiVAR_0634621517S → G1 PublicationCorresponds to variant dbSNP:rs62415826EnsemblClinVar.1
Natural variantiVAR_0634631662D → V1 PublicationCorresponds to variant dbSNP:rs147641443EnsemblClinVar.1
Natural variantiVAR_0634641664T → I1 PublicationCorresponds to variant dbSNP:rs561830314Ensembl.1
Natural variantiVAR_0634651682D → Y in RP25. 1 PublicationCorresponds to variant dbSNP:rs75831552EnsemblClinVar.1
Natural variantiVAR_0634661739P → L1 Publication1
Natural variantiVAR_0634671747E → G in RP25. 1 PublicationCorresponds to variant dbSNP:rs535663619Ensembl.1
Natural variantiVAR_0634681748L → F1 PublicationCorresponds to variant dbSNP:rs57312007EnsemblClinVar.1
Natural variantiVAR_0634691837W → S1 PublicationCorresponds to variant dbSNP:rs199689193EnsemblClinVar.1
Natural variantiVAR_0634701869L → M in RP25. 1 Publication1
Natural variantiVAR_0634711873L → V1 PublicationCorresponds to variant dbSNP:rs16895517EnsemblClinVar.1
Natural variantiVAR_0634721902N → I1 PublicationCorresponds to variant dbSNP:rs9353806EnsemblClinVar.1
Natural variantiVAR_0634731915S → G1 PublicationCorresponds to variant dbSNP:rs188093810EnsemblClinVar.1
Natural variantiVAR_0634741987T → P2 PublicationsCorresponds to variant dbSNP:rs1278246029Ensembl.1
Natural variantiVAR_0634751993T → A1 PublicationCorresponds to variant dbSNP:rs115066356EnsemblClinVar.1
Natural variantiVAR_0634761999I → V1 PublicationCorresponds to variant dbSNP:rs893294562Ensembl.1
Natural variantiVAR_0644182017G → V in RP25. 1 PublicationCorresponds to variant dbSNP:rs868349465Ensembl.1
Natural variantiVAR_0634772040V → D3 PublicationsCorresponds to variant dbSNP:rs201580493EnsemblClinVar.1
Natural variantiVAR_0634782139C → Y in RP25. 1 PublicationCorresponds to variant dbSNP:rs749909863EnsemblClinVar.1
Natural variantiVAR_0634792151N → S1 PublicationCorresponds to variant dbSNP:rs141603172Ensembl.1
Natural variantiVAR_0634802189L → P in RP25. 1 Publication1
Natural variantiVAR_0634812211S → L in RP25; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs145623359EnsemblClinVar.1
Natural variantiVAR_0634822326R → Q1 PublicationCorresponds to variant dbSNP:rs4710457EnsemblClinVar.1
Natural variantiVAR_0644192503E → K in RP25. 1 PublicationCorresponds to variant dbSNP:rs768964978EnsemblClinVar.1
Natural variantiVAR_0634832556S → C2 PublicationsCorresponds to variant dbSNP:rs66462731EnsemblClinVar.1
Natural variantiVAR_0634842599H → R1 PublicationCorresponds to variant dbSNP:rs74636274EnsemblClinVar.1
Natural variantiVAR_0634852757A → P1 PublicationCorresponds to variant dbSNP:rs1250317776Ensembl.1
Natural variantiVAR_0634862829A → T in RP25. 1 PublicationCorresponds to variant dbSNP:rs111991705Ensembl.1
Natural variantiVAR_0634872831T → I1 PublicationCorresponds to variant dbSNP:rs144513453Ensembl.1
Natural variantiVAR_0634882911C → Y in RP25. 1 Publication1
Natural variantiVAR_0634892928G → E in RP25. 1 Publication1
Natural variantiVAR_0644202945Q → E in RP25. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_047161590 – 594CSCSL → RILNTVIPHQIQQHIERFIQ HDQVGFIVRI in isoform 2. Curated5
Alternative sequenceiVSP_035821590 – 594CSCSL → YLCII in isoform 3. 2 Publications5
Alternative sequenceiVSP_035822595 – 3165Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST2571
Alternative sequenceiVSP_0367092691 – 2711Missing in isoform 1. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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 Genomic DNA No translation available.
AL109922 Genomic DNA No translation available.
AL132767 Genomic DNA No translation available.
AL133322 Genomic DNA No translation available.
AL137007 Genomic DNA No translation available.
AL353153 Genomic DNA No translation available.
AL353669 Genomic DNA No translation available.
AL354719 Genomic DNA No translation available.
AL354913 Genomic DNA No translation available.
AL355357 Genomic DNA No translation available.
AL356454 Genomic DNA No translation available.
AL357375 Genomic DNA No translation available.
AL365217 Genomic DNA No translation available.
AL450319 Genomic DNA No translation available.
AL450324 Genomic DNA No translation available.
AL450394 Genomic DNA No translation available.
AL589916 Genomic DNA No translation available.
AL590546 Genomic DNA No translation available.
AL590784 Genomic DNA No translation available.
AL603767 Genomic DNA No translation available.
BC133011 mRNA Translation: AAI33012.1
BC133013 mRNA Translation: AAI33014.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47445.1 [Q5T1H1-1]
CCDS47446.1 [Q5T1H1-4]
CCDS4967.1 [Q5T1H1-2]
CCDS78156.1 [Q5T1H1-3]

NCBI Reference Sequences

More...
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342421; ENSP00000341818; ENSG00000188107 [Q5T1H1-2]
ENST00000370621; ENSP00000359655; ENSG00000188107 [Q5T1H1-3]
ENST00000393380; ENSP00000377042; ENSG00000188107 [Q5T1H1-4]
ENST00000503581; ENSP00000424243; ENSG00000188107 [Q5T1H1-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
346007

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:346007

UCSC genome browser

More...
UCSCi
uc003peq.4 human [Q5T1H1-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 Genomic DNA No translation available.
AL109922 Genomic DNA No translation available.
AL132767 Genomic DNA No translation available.
AL133322 Genomic DNA No translation available.
AL137007 Genomic DNA No translation available.
AL353153 Genomic DNA No translation available.
AL353669 Genomic DNA No translation available.
AL354719 Genomic DNA No translation available.
AL354913 Genomic DNA No translation available.
AL355357 Genomic DNA No translation available.
AL356454 Genomic DNA No translation available.
AL357375 Genomic DNA No translation available.
AL365217 Genomic DNA No translation available.
AL450319 Genomic DNA No translation available.
AL450324 Genomic DNA No translation available.
AL450394 Genomic DNA No translation available.
AL589916 Genomic DNA No translation available.
AL590546 Genomic DNA No translation available.
AL590784 Genomic DNA No translation available.
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]
CCDS78156.1 [Q5T1H1-3]
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]

3D structure databases

SMRiQ5T1H1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131371, 1 interactor
IntActiQ5T1H1, 1 interactor
STRINGi9606.ENSP00000424243

PTM databases

iPTMnetiQ5T1H1
PhosphoSitePlusiQ5T1H1

Polymorphism and mutation databases

BioMutaiEYS
DMDMi338817908

Proteomic databases

jPOSTiQ5T1H1
PaxDbiQ5T1H1
PeptideAtlasiQ5T1H1
PRIDEiQ5T1H1
ProteomicsDBi64263
64264 [Q5T1H1-1]
64265 [Q5T1H1-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342421; ENSP00000341818; ENSG00000188107 [Q5T1H1-2]
ENST00000370621; ENSP00000359655; ENSG00000188107 [Q5T1H1-3]
ENST00000393380; ENSP00000377042; ENSG00000188107 [Q5T1H1-4]
ENST00000503581; ENSP00000424243; ENSG00000188107 [Q5T1H1-1]
GeneIDi346007
KEGGihsa:346007
UCSCiuc003peq.4 human [Q5T1H1-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
346007
DisGeNETi346007

GeneCards: human genes, protein and diseases

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GeneCardsi
EYS
GeneReviewsiEYS

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0025090
HGNCiHGNC:21555 EYS
HPAiHPA027103
MalaCardsiEYS
MIMi602772 phenotype
612424 gene
neXtProtiNX_Q5T1H1
OpenTargetsiENSG00000188107
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA164719488

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1217 Eukaryota
KOG3509 Eukaryota
ENOG410XS9U LUCA
GeneTreeiENSGT00940000163729
HOGENOMiHOG000139621
InParanoidiQ5T1H1
KOiK19601
OMAiHCEVDVA
OrthoDBi115967at2759
PhylomeDBiQ5T1H1
TreeFamiTF317565

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EYS human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
346007

Protein Ontology

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PROi
PR:Q5T1H1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000188107 Expressed in 85 organ(s), highest expression level in testis
ExpressionAtlasiQ5T1H1 baseline and differential
GenevisibleiQ5T1H1 HS

Family and domain databases

InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR001791 Laminin_G
PfamiView protein in Pfam
PF00008 EGF, 10 hits
PF12661 hEGF, 4 hits
PF02210 Laminin_G_2, 5 hits
SMARTiView protein in SMART
SM00181 EGF, 28 hits
SM00179 EGF_CA, 20 hits
SM00282 LamG, 5 hits
SUPFAMiSSF49899 SSF49899, 5 hits
SSF57184 SSF57184, 2 hits
PROSITEiView protein in PROSITE
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEYS_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>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
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: June 28, 2011
Last modified: May 8, 2019
This is version 121 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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