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Aliases for RRH Gene

Aliases for RRH Gene

  • Retinal Pigment Epithelium-Derived Rhodopsin Homolog 2 3
  • Peropsin 2 3
  • Visual Pigment-Like Receptor Peropsin 3

External Ids for RRH Gene

Summaries for RRH Gene

Entrez Gene Summary for RRH Gene

  • Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008]

GeneCards Summary for RRH Gene

RRH (Retinal Pigment Epithelium-Derived Rhodopsin Homolog) is a Protein Coding gene. Diseases associated with RRH include retinitis pigmentosa and alcohol dependence. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1SW.

UniProtKB/Swiss-Prot for RRH Gene

  • May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds

Gene Wiki entry for RRH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RRH Gene

Genomics for RRH Gene

Genomic Location for RRH Gene

Start:
109,827,994 bp from pter
End:
109,844,707 bp from pter
Size:
16,714 bases
Orientation:
Plus strand

Genomic View for RRH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RRH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRH Gene

Regulatory Elements for RRH Gene

Proteins for RRH Gene

  • Protein details for RRH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14718-OPSX_HUMAN
    Recommended name:
    Visual pigment-like receptor peropsin
    Protein Accession:
    O14718
    Secondary Accessions:
    • A1A4V2
    • Q7RTS4

    Protein attributes for RRH Gene

    Size:
    337 amino acids
    Molecular mass:
    37423 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RRH Gene

Proteomics data for RRH Gene at MOPED

Post-translational modifications for RRH Gene

Other Protein References for RRH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RRH Gene

Domains for RRH Gene

Gene Families for RRH Gene

HGNC:
  • OPN :GPCR / Class A : Opsin receptors

Protein Domains for RRH Gene

UniProtKB/Swiss-Prot:

OPSX_HUMAN
Family:
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.:
    • O14718
genes like me logo Genes that share domains with RRH: view

Function for RRH Gene

Molecular function for RRH Gene

GENATLAS Biochemistry: peropsin,retinol pigment epithelium-derived,rhodopsin homolog,located in the apical microvilli of RPE,putative regulator of RPE function or activity
UniProtKB/Swiss-Prot Function: May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds

Gene Ontology (GO) - Molecular Function for RRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0009881 photoreceptor activity IEA --
genes like me logo Genes that share ontologies with RRH: view

Phenotypes for RRH Gene

GenomeRNAi human phenotypes for RRH:
genes like me logo Genes that share phenotypes with RRH: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RRH Gene

Localization for RRH Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRH Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RRH Gene COMPARTMENTS Subcellular localization image for RRH gene
Compartment Confidence
plasma membrane 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9275222
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with RRH: view

Pathways for RRH Gene

genes like me logo Genes that share pathways with RRH: view

Pathways by source for RRH Gene

Gene Ontology (GO) - Biological Process for RRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
GO:0018298 protein-chromophore linkage IEA --
genes like me logo Genes that share ontologies with RRH: view

Transcripts for RRH Gene

mRNA/cDNA for RRH Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RRH Gene

Retinal pigment epithelium-derived rhodopsin homolog:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RRH Gene

No ASD Table

Relevant External Links for RRH Gene

GeneLoc Exon Structure for
RRH
ECgene alternative splicing isoforms for
RRH

Expression for RRH Gene

mRNA expression in normal human tissues for RRH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RRH Gene

This gene is overexpressed in Brain - Cerebellum (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RRH Gene

SOURCE GeneReport for Unigene cluster for RRH Gene Hs.658310

mRNA Expression by UniProt/SwissProt for RRH Gene

O14718-OPSX_HUMAN
Tissue specificity: Found only in the eye, where it is localized to the retinal pigment epithelium (RPE). In the RPE, it is localized to the microvilli that surround the photoreceptor outer segments
genes like me logo Genes that share expressions with RRH: view

Orthologs for RRH Gene

This gene was present in the common ancestor of chordates.

Orthologs for RRH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRH 36
  • 99.9 (n)
  • 100 (a)
RRH 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RRH 36
  • 90.8 (n)
  • 89.91 (a)
RRH 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RRH 36
  • 90.58 (n)
  • 91.07 (a)
RRH 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rrh 36
  • 82.78 (n)
  • 80.24 (a)
Rrh 16
Rrh 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RRH 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRH 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rrh 36
  • 82.11 (n)
  • 76.59 (a)
chicken
(Gallus gallus)
Aves RRH 36
  • 74.75 (n)
  • 76.05 (a)
RRH 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 71 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rrh 36
  • 71.76 (n)
  • 73.09 (a)
zebrafish
(Danio rerio)
Actinopterygii rrh 36
  • 66.77 (n)
  • 71.25 (a)
rrh 37
  • 62 (a)
OneToOne
Species with no ortholog for RRH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RRH Gene

ENSEMBL:
Gene Tree for RRH (if available)
TreeFam:
Gene Tree for RRH (if available)

Paralogs for RRH Gene

Paralogs for RRH Gene

Selected SIMAP similar genes for RRH Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RRH: view

Variants for RRH Gene

Sequence variations from dbSNP and Humsavar for RRH Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs4698749 -- 109,836,737(+) AAACC(C/T)GATCT intron-variant
rs4698750 -- 109,837,395(+) CTTAG(G/T)ACATT intron-variant
rs4698795 -- 109,837,613(+) AAGAG(A/G)TCAAA intron-variant
rs4698796 -- 109,843,797(+) AATCT(A/G)TAGAA intron-variant
rs6533468 -- 109,841,796(+) TATGG(G/T)TTTAT intron-variant

Relevant External Links for RRH Gene

HapMap Linkage Disequilibrium report
RRH
Human Gene Mutation Database (HGMD)
RRH

No data available for Structural Variations from Database of Genomic Variants (DGV) for RRH Gene

Disorders for RRH Gene

(1) University of Copenhagen DISEASES for RRH Gene

(1) Novoseek inferred disease relationships for RRH Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 69.1 3

Relevant External Links for RRH

Genetic Association Database (GAD)
RRH
Human Genome Epidemiology (HuGE) Navigator
RRH
genes like me logo Genes that share disorders with RRH: view

No data available for UniProtKB/Swiss-Prot for RRH Gene

Publications for RRH Gene

  1. Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium. (PMID: 9275222) Sun H. … Nathans J. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23
  2. In silico characterisation and chromosomal localisation of human RRH (peropsin) -- implications for opsin evolution. (PMID: 12542842) Bellingham J. … Foster R.G. (BMC Genomics 2003) 3 4 23
  3. Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. (PMID: 17167409) Rivolta C. … Dryja T.P. (Mol. Vis. 2006) 3 23
  4. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 49
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for RRH Gene

Sources for RRH Gene

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