RHO

Protein identityUniProt · HPA

UniProt accession

P08100

Gene

RHO

Ensembl

ENSG00000163914

Chromosome

3

Canonical length

348 aa

Protein class

Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

348 residues, UniProt reviewed canonical sequence.

>P08100|RHO
     1  MNGTEGPNFY VPFSNATGVV RSPFEYPQYY LAEPWQFSML AAYMFLLIVL GFPINFLTLY
    61  VTVQHKKLRT PLNYILLNLA VADLFMVLGG FTSTLYTSLH GYFVFGPTGC NLEGFFATLG
   121  GEIALWSLVV LAIERYVVVC KPMSNFRFGE NHAIMGVAFT WVMALACAAP PLAGWSRYIP
   181  EGLQCSCGID YYTLKPEVNN ESFVIYMFVV HFTIPMIIIF FCYGQLVFTV KEAAAQQQES
   241  ATTQKAEKEV TRMVIIMVIA FLICWVPYAS VAFYIFTHQG SNFGPIFMTI PAFFAKSAAI
   301  YNPVIYIMMN KQFRNCMLTT ICCGKNPLGD DEASATVSKT ETSQVAPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHO can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

7

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

3,768 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RHO.

Disease | AllUniProt

Conditions RHO is implicated in, by any mechanism.

• Retinitis pigmentosa 4 (RP4) MIM:613731
• Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) MIM:610445

Disease | GeneticClinVar

200 pathogenic / likely-pathogenic of 662 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 4
• Retinal dystrophy
• Retinitis pigmentosa
• Congenital stationary night blindness autosomal dominant 1
• RHO-related disorder

ReferencesPubMed · IEDB

Publications for RHO from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.08

gnomAD pLI

0

gnomAD missense Z

0.24

DepMap mean gene effect

-0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• absorption of visible light
• cellular response to light stimulus
• detection of temperature stimulus involved in thermoception
• G protein-coupled opsin signaling pathway
• G protein-coupled receptor signaling pathway
• gene expression
• microtubule cytoskeleton organization
• photoreceptor cell maintenance
• phototransduction
• phototransduction, visible light
• podosome assembly
• response to light intensity
• rod bipolar cell differentiation
• thermotaxis
• visual perception

Molecular functions

• 11-cis retinal binding
• G protein-coupled photoreceptor activity
• G protein-coupled receptor activity
• metal ion binding

Cellular components

• cell-cell junction
• ciliary membrane
• Golgi apparatus
• Golgi membrane
• Golgi-associated vesicle membrane
• membrane
• photoreceptor disc membrane
• photoreceptor inner segment
• photoreceptor inner segment membrane
• photoreceptor outer segment
• photoreceptor outer segment membrane
• plasma membrane
• rod photoreceptor outer segment
• sperm head plasma membrane
• sperm midpiece

Protein domainsUniProt · Pfam · InterPro

• G protein-coupled receptor, rhodopsin-like
• Opsin
• GPCR, rhodopsin-like, 7TM
• Visual pigments (opsins) retinal binding site
• G-protein coupled receptor opsins
• 7 transmembrane receptor (rhodopsin family)
• Rhodopsin
• Rhodopsin, N-terminal
• Amino terminal of the G-protein receptor rhodopsin

KeywordsUniProt

• Acetylation
• Cell projection
• Chromophore
• Congenital stationary night blindness
• Disulfide bond
• G-protein coupled receptor
• Glycoprotein
• Lipoprotein
• Membrane
• Metal-binding
• Palmitate
• Phosphoprotein
• Photoreceptor protein
• Receptor
• Retinal protein
• Retinitis pigmentosa
• Sensory transduction
• Transducer
• Transmembrane
• Transmembrane helix
• Vision
• Zinc

InteractionsUniProt · HPA

Protein binding partners of RHO in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GNAT1
• GNAT3
• GRK1
• PRCD
• DYNLT1
• CNKSR1
• SAG