Human Gene RHO (ENST00000296271.4_4) from GENCODE V47lift37
  Description: rhodopsin (from RefSeq NM_000539.3)
Gencode Transcript: ENST00000296271.4_4
Gencode Gene: ENSG00000163914.5_7
Transcript (Including UTRs)
   Position: hg19 chr3:129,247,482-129,254,187 Size: 6,706 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr3:129,247,577-129,252,561 Size: 4,985 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:129,247,482-129,254,187)mRNA (may differ from genome)Protein (348 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OPSD_HUMAN
DESCRIPTION: RecName: Full=Rhodopsin; AltName: Full=Opsin-2;
FUNCTION: Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal.
BIOPHYSICOCHEMICAL PROPERTIES: Absorption: Abs(max)=495 nm;
SUBUNIT: Homodimer (By similarity).
INTERACTION: O95405:ZFYVE9; NbExp=2; IntAct=EBI-1394177, EBI-296817;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Note=Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia.
TISSUE SPECIFICITY: Rod shaped photoreceptor cells which mediates vision in dim light.
PTM: Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
PTM: Contains one covalently linked retinal chromophore (By similarity).
DISEASE: Defects in RHO are the cause of retinitis pigmentosa type 4 (RP4) [MIM:613731]. RP leads to degeneration of retinal photoreceptor cells. 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.
DISEASE: Defects in RHO are the cause of congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]; also known as rhodopsin-related congenital stationary night blindness. Congenital stationary night blindness is a non- progressive retinal disorder characterized by impaired night vision.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
WEB RESOURCE: Name=Mutations of the RHO gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rhomut.htm";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RHO";
WEB RESOURCE: Name=Wikipedia; Note=Rhodopsin entry; URL="http://en.wikipedia.org/wiki/Rhodopsin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RHO
Diseases sorted by gene-association score: night blindness, congenital stationary, autosomal dominant 1* (1331), retinitis pigmentosa 4, autosomal dominant or recessive* (1200), fundus albipunctatus* (548), rhyns syndrome* (400), retinitis pigmentosa* (369), rlbp1-related fundus albipunctatus* (283), congenital stationary night blindness* (125), rho-related retinitis punctata albescens* (100), rho-related retinitis pigmentosa* (100), night blindness (35), retinitis (23), hereditary retinal dystrophy (22), retinal disease (19), xerophthalmia (18), hereditary night blindness (17), keratomalacia (16), retinitis pigmentosa 1 (15), stargardt macular degeneration (13), retinal degeneration (12), autosomal dominant congenital stationary night blindness (11), cancer-associated retinopathy (10), melanoma-associated retinopathy (10), solar retinopathy (9), retinitis pigmentosa 7 and digenic (7), retinitis pigmentosa 10 (7), bardet-biedl syndrome 5 (6), stargardt disease 1 (6), red color blindness (6), blue cone monochromacy (5), pineocytoma (5), red-green color blindness (5), chorioretinal scar (5), macular degeneration, age-related, 1 (5), degeneration of macula and posterior pole (5), ocular hypertension (5), blue color blindness (5), pineal parenchymal tumor of intermediate differentiation (4), stargardt disease (4), leber congenital amaurosis (4), bardet-biedl syndrome 17 (4), usher syndrome, type 2d (4), nervous system disease (1), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.33 RPKM in Brain - Cortex
Total median expression: 1.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.4095-0.488 Picture PostScript Text
3' UTR -559.901626-0.344 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR001760 - Opsin
IPR000732 - Rhodopsin
IPR019477 - Rhodopsin_N

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF10320 - Serpentine type 7TM GPCR chemoreceptor Srsx
PF10323 - Serpentine type 7TM GPCR chemoreceptor Srv
PF10324 - Serpentine type 7TM GPCR chemoreceptor Srw
PF10413 - Amino terminal of the G-protein receptor rhodopsin

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on P08100
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0005502 11-cis retinal binding
GO:0005515 protein binding
GO:0008020 G-protein coupled photoreceptor activity
GO:0009881 photoreceptor activity
GO:0046872 metal ion binding

Biological Process:
GO:0001523 retinoid metabolic process
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0007603 phototransduction, visible light
GO:0009416 response to light stimulus
GO:0009583 detection of light stimulus
GO:0016038 absorption of visible light
GO:0016056 rhodopsin mediated signaling pathway
GO:0018298 protein-chromophore linkage
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0045494 photoreceptor cell maintenance
GO:0050896 response to stimulus
GO:0050953 sensory perception of light stimulus
GO:0060041 retina development in camera-type eye
GO:0071482 cellular response to light stimulus

Cellular Component:
GO:0000139 Golgi membrane
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030660 Golgi-associated vesicle membrane
GO:0042622 photoreceptor outer segment membrane
GO:0042995 cell projection
GO:0060170 ciliary membrane
GO:0060342 photoreceptor inner segment membrane
GO:0097381 photoreceptor disc membrane


-  Descriptions from all associated GenBank mRNAs
  BX537381 - Homo sapiens mRNA; cDNA DKFZp686B2082 (from clone DKFZp686B2082); complete cds.
BC112104 - Homo sapiens rhodopsin, mRNA (cDNA clone MGC:138309 IMAGE:8327572), complete cds.
BC112106 - Homo sapiens rhodopsin, mRNA (cDNA clone MGC:138311 IMAGE:8327574), complete cds.
JD205797 - Sequence 186821 from Patent EP1572962.
JD409135 - Sequence 390159 from Patent EP1572962.
JD049754 - Sequence 30778 from Patent EP1572962.
AB464154 - Synthetic construct DNA, clone: pF1KB8342, Homo sapiens RHO gene for rhodopsin, without stop codon, in Flexi system.
AM392780 - Synthetic construct Homo sapiens clone IMAGE:100002303 for hypothetical protein (RHO gene).
BC111451 - Synthetic construct Homo sapiens clone IMAGE:40080645, MGC:133433 RHO protein (RHO) mRNA, encodes complete protein.
JD390042 - Sequence 371066 from Patent EP1572962.
JD461727 - Sequence 442751 from Patent EP1572962.
JD232629 - Sequence 213653 from Patent EP1572962.
JD284881 - Sequence 265905 from Patent EP1572962.
JD087745 - Sequence 68769 from Patent EP1572962.
JD185209 - Sequence 166233 from Patent EP1572962.
JD205591 - Sequence 186615 from Patent EP1572962.
JD177277 - Sequence 158301 from Patent EP1572962.
JD393355 - Sequence 374379 from Patent EP1572962.
JD283772 - Sequence 264796 from Patent EP1572962.
JD232637 - Sequence 213661 from Patent EP1572962.
JD547861 - Sequence 528885 from Patent EP1572962.
JD484498 - Sequence 465522 from Patent EP1572962.
JD075390 - Sequence 56414 from Patent EP1572962.
JD329256 - Sequence 310280 from Patent EP1572962.
JD485930 - Sequence 466954 from Patent EP1572962.
JD039800 - Sequence 20824 from Patent EP1572962.
JD438256 - Sequence 419280 from Patent EP1572962.
JD357833 - Sequence 338857 from Patent EP1572962.
JD124081 - Sequence 105105 from Patent EP1572962.
JD109732 - Sequence 90756 from Patent EP1572962.
JD049633 - Sequence 30657 from Patent EP1572962.
JD440814 - Sequence 421838 from Patent EP1572962.
JD131889 - Sequence 112913 from Patent EP1572962.
JD515619 - Sequence 496643 from Patent EP1572962.
JD310762 - Sequence 291786 from Patent EP1572962.
LQ112213 - Sequence 19 from Patent WO2015143418.
LX154806 - JP 2017509632-A/18: GENE THERAPY FOR RETINITIS PIGMENTOSA.
LY411209 - KR 1020160127832-A/19: GENE THERAPY FOR RETINITIS PIGMENTOSA.
JD158438 - Sequence 139462 from Patent EP1572962.
JD393442 - Sequence 374466 from Patent EP1572962.
JD426255 - Sequence 407279 from Patent EP1572962.
JD217885 - Sequence 198909 from Patent EP1572962.
JD507571 - Sequence 488595 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P08100 (Reactome details) participates in the following event(s):

R-HSA-2454118 11cRAL binds to opsin to form 11c-retinyl:RHO
R-HSA-74948 PP2A dephosphorylates p-RHO to RHO
R-HSA-74947 p-MII:SAG dissociates to p-RHO and SAG
R-HSA-74101 Photons induce isomerization of 11c-retinyl to at-retinyl
R-HSA-2581474 GRK1,4,7 phosphorylate MII to p-MII
R-HSA-2581488 SAG binds p-MII to form p-MII:SAG
R-HSA-419841 Light stimulates opsin receptors
R-HSA-2632521 at-retinyl is hydrolysed from p-MII:SAG to release atRAL
R-HSA-2485180 MII catalyses GDP/GTP exchange on Gt
R-HSA-5620914 ARF4:GTP binds VxPx-motifs of membrane proteins
R-HSA-8982637 Opsins binds G alpha-t
R-HSA-8982640 G-alpha(t):G-beta-gamma:Opsins complex dissociates to active G-alpha(t)
R-HSA-5620918 ASAP1 dimer binds membrane proteins
R-HSA-5623519 RAB3IP and RAB8A bind to the ciliary targeting complex
R-HSA-5623513 ASAP1 stimulates GTPase activity of ARF4
R-HSA-420883 Opsins act as GEFs for G alpha-t
R-HSA-5620921 ASAP1 recruits RAB11FIP3 and RAB11 to the ciliary targeting complex
R-HSA-5623521 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5623524 The exocyst complex binds to RAB3IP in the ciliary targeting complex
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-419771 Opsins
R-HSA-2187338 Visual phototransduction
R-HSA-2514856 The phototransduction cascade
R-HSA-5620916 VxPx cargo-targeting to cilium
R-HSA-418594 G alpha (i) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-5617833 Cilium Assembly
R-HSA-372790 Signaling by GPCR
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000296271.1, ENST00000296271.2, ENST00000296271.3, NM_000539, OPN2, OPSD_HUMAN, P08100, Q16414, Q2M249, uc317lsi.1, uc317lsi.2
UCSC ID: ENST00000296271.4_4
RefSeq Accession: NM_000539.3
Protein: P08100 (aka OPSD_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RHO:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.