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EYS eyes shut homolog [ Homo sapiens (human) ]

Gene ID: 346007, updated on 8-Dec-2018

Summary

Official Symbol
EYSprovided by HGNC
Official Full Name
eyes shut homologprovided by HGNC
Primary source
HGNC:HGNC:21555
See related
Ensembl:ENSG00000188107 MIM:612424
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP25; SPAM; EGFL10; EGFL11; C6orf178; C6orf179; C6orf180; bA74E24.1; dJ22I17.2; bA166P24.2; bA307F22.3; dJ1018A4.2; dJ303F19.1
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See EYS in Genome Data Viewer
Location:
6q12
Exon count:
46
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (63719980..65707225, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (64429876..66417118, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L9 pseudogene 18 Neighboring gene platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene Neighboring gene PHD finger protein 3 Neighboring gene uncharacterized LOC105377836 Neighboring gene uncharacterized LOC107986608 Neighboring gene glucosaminyl (N-acetyl) transferase 1 pseudogene 4 Neighboring gene transmembrane protein 98 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein D pseudogene 2 Neighboring gene uncharacterized LOC105377837 Neighboring gene uncharacterized LOC107986607 Neighboring gene zinc finger CCCH-type domain-containing-like Neighboring gene solute carrier family 25 member 51 pseudogene 1 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Retinitis pigmentosa 25 Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog
Identification of a melanoma susceptibility locus and somatic mutation in TET2.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0663

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle tissue regeneration IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 

General protein information

Preferred Names
protein eyes shut homolog
Names
EGF-like-domain, multiple 10
EGF-like-domain, multiple 11
epidermal growth factor-like protein 10
epidermal growth factor-like protein 11
protein spacemaker homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023443.2 RefSeqGene

    Range
    5001..1992246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142800.1NP_001136272.1  protein eyes shut homolog isoform 1 precursor

    See identical proteins and their annotated locations for NP_001136272.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BX537914, FJ416331
    Consensus CDS
    CCDS47445.1
    UniProtKB/Swiss-Prot
    Q5T1H1
    Related
    ENSP00000424243.1, ENST00000503581.5
    Conserved Domains (5) summary
    smart00282
    Location:27192856
    LamG; Laminin G domain
    cd00054
    Location:11611197
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:21492315
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam02210
    Location:24612582
    Laminin_G_2; Laminin G domain
    pfam06247
    Location:195283
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
  2. NM_001142801.1NP_001136273.1  protein eyes shut homolog isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a substantially shorter and unique C-terminus, compared to isoform 1.
    Source sequence(s)
    AL365217, BX537914, FJ416331
    Consensus CDS
    CCDS47446.1
    UniProtKB/Swiss-Prot
    Q5T1H1
    Related
    ENSP00000377042.2, ENST00000393380.6
    Conserved Domains (1) summary
    pfam06247
    Location:195283
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
  3. NM_001292009.1NP_001278938.1  protein eyes shut homolog isoform 4 precursor

    See identical proteins and their annotated locations for NP_001278938.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes an additional in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (4) that is longer than isoform 1.
    Source sequence(s)
    FJ416331, FM209056
    Consensus CDS
    CCDS78156.1
    UniProtKB/Swiss-Prot
    Q5T1H1
    Related
    ENSP00000359655.3, ENST00000370621.7
    Conserved Domains (5) summary
    smart00282
    Location:27402877
    LamG; Laminin G domain
    cd00054
    Location:11611197
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:21492315
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam02210
    Location:24612582
    Laminin_G_2; Laminin G domain
    pfam06247
    Location:195283
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
  4. NM_198283.1NP_938024.1  protein eyes shut homolog isoform 3 precursor

    See identical proteins and their annotated locations for NP_938024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons but contains alternate 5' and 3' exon structure, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a substantially shorter and unique C-terminus, compared to isoform 1.
    Source sequence(s)
    AY358133
    Consensus CDS
    CCDS4967.1
    UniProtKB/Swiss-Prot
    Q5T1H1
    Related
    ENSP00000341818.5, ENST00000342421.9
    Conserved Domains (1) summary
    pfam06247
    Location:195283
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    63719980..65707225 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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