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P08100

- OPSD_HUMAN

UniProt

P08100 - OPSD_HUMAN

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Protein

Rhodopsin

Gene

RHO

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

Absorptioni

Abs(max)=495 nm

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi201 – 2011ZincBy similarity
Binding sitei265 – 2651Retinal chromophoreBy similarity
Metal bindingi279 – 2791ZincBy similarity

GO - Molecular functioni

  1. G-protein coupled receptor activity Source: ProtInc
  2. metal ion binding Source: UniProtKB-KW
  3. photoreceptor activity Source: UniProtKB-KW
  4. retinal binding Source: Ensembl

GO - Biological processi

  1. G-protein coupled receptor signaling pathway Source: ProtInc
  2. phototransduction, visible light Source: Reactome
  3. protein-chromophore linkage Source: UniProtKB-KW
  4. protein phosphorylation Source: Ensembl
  5. red, far-red light phototransduction Source: Ensembl
  6. regulation of rhodopsin mediated signaling pathway Source: Reactome
  7. retina development in camera-type eye Source: Ensembl
  8. retinoid metabolic process Source: Reactome
  9. rhodopsin mediated signaling pathway Source: Reactome
  10. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Chromophore, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_160156. The canonical retinoid cycle in rods (twilight vision).
REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_18426. Opsins.
REACT_19231. G alpha (i) signalling events.
SignaLinkiP08100.

Protein family/group databases

TCDBi9.A.14.1.2. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Rhodopsin
Alternative name(s):
Opsin-2
Gene namesi
Name:RHO
Synonyms:OPN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:10012. RHO.

Subcellular locationi

Membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3636ExtracellularAdd
BLAST
Transmembranei37 – 6125Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini62 – 7312CytoplasmicAdd
BLAST
Transmembranei74 – 9825Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini99 – 11315ExtracellularAdd
BLAST
Transmembranei114 – 13320Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini134 – 15219CytoplasmicAdd
BLAST
Transmembranei153 – 17624Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini177 – 20226ExtracellularAdd
BLAST
Transmembranei203 – 23028Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini231 – 25222CytoplasmicAdd
BLAST
Transmembranei253 – 27624Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini277 – 2848Extracellular
Transmembranei285 – 30925Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini310 – 34839CytoplasmicAdd
BLAST

GO - Cellular componenti

  1. cell-cell junction Source: Ensembl
  2. Golgi apparatus Source: MGI
  3. integral component of plasma membrane Source: ProtInc
  4. photoreceptor disc membrane Source: Reactome
  5. photoreceptor inner segment Source: MGI
  6. photoreceptor inner segment membrane Source: UniProtKB
  7. photoreceptor outer segment Source: MGI
  8. photoreceptor outer segment membrane Source: UniProtKB
  9. plasma membrane Source: LIFEdb
  10. rough endoplasmic reticulum membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 4 (RP4) [MIM:613731]: A 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.24 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41T → K in RP4.
VAR_004765
Natural varianti15 – 151N → S in RP4. 1 Publication
VAR_004766
Natural varianti17 – 171T → M in RP4. 2 Publications
VAR_004767
Natural varianti23 – 231P → H in RP4; most common variant, leads to interaction with EDEM1 followed by degradation by the ERAD system. 3 Publications
VAR_004768
Natural varianti23 – 231P → L in RP4.
VAR_004769
Natural varianti28 – 281Q → H in RP4.
VAR_004770
Natural varianti40 – 401L → R in RP4. 1 Publication
VAR_004771
Natural varianti44 – 441M → T in RP4. 1 Publication
VAR_004772
Natural varianti45 – 451F → L in RP4.
Corresponds to variant rs104893770 [ dbSNP | Ensembl ].
VAR_004773
Natural varianti46 – 461L → R in RP4.
VAR_004774
Natural varianti51 – 511G → R in RP4.
VAR_004776
Natural varianti51 – 511G → V in RP4.
VAR_004777
Natural varianti53 – 531P → R in RP4.
Corresponds to variant rs28933395 [ dbSNP | Ensembl ].
VAR_004778
Natural varianti58 – 581T → R in RP4. 2 Publications
Corresponds to variant rs28933394 [ dbSNP | Ensembl ].
VAR_004779
Natural varianti68 – 714Missing in RP4.
VAR_004780
Natural varianti87 – 871V → D in RP4.
VAR_004781
Natural varianti89 – 891G → D in RP4.
VAR_004782
Natural varianti106 – 1061G → R in RP4. 1 Publication
Corresponds to variant rs28933994 [ dbSNP | Ensembl ].
VAR_004786
Natural varianti106 – 1061G → W in RP4.
VAR_004787
Natural varianti109 – 1091G → R in RP4. 1 Publication
VAR_004788
Natural varianti110 – 1101C → F in RP4. 1 Publication
VAR_004789
Natural varianti110 – 1101C → Y in RP4.
VAR_004790
Natural varianti114 – 1141G → D in RP4.
VAR_004791
Natural varianti125 – 1251L → R in RP4.
VAR_004792
Natural varianti127 – 1271S → F in RP4. 1 Publication
VAR_004793
Natural varianti131 – 1311L → P in RP4. 2 Publications
VAR_004794
Natural varianti135 – 1351R → G in RP4. 1 Publication
VAR_004795
Natural varianti135 – 1351R → L in RP4.
VAR_004796
Natural varianti135 – 1351R → W in RP4. 2 Publications
VAR_004797
Natural varianti140 – 1401C → S in RP4. 1 Publication
VAR_004798
Natural varianti150 – 1501E → K in RP4; autosomal recessive. 2 Publications
VAR_004799
Natural varianti164 – 1641A → E in RP4.
VAR_004800
Natural varianti164 – 1641A → V in RP4. 1 Publication
VAR_004801
Natural varianti167 – 1671C → R in RP4.
VAR_004802
Natural varianti171 – 1711P → L in RP4.
VAR_004803
Natural varianti171 – 1711P → Q in RP4. 1 Publication
VAR_004804
Natural varianti171 – 1711P → S in RP4.
VAR_004805
Natural varianti178 – 1781Y → C in RP4.
VAR_004806
Natural varianti178 – 1781Y → N in RP4. 1 Publication
VAR_004807
Natural varianti180 – 1801P → S in RP4. 1 Publication
VAR_068359
Natural varianti181 – 1811E → K in RP4.
VAR_004808
Natural varianti182 – 1821G → S in RP4. 1 Publication
VAR_004809
Natural varianti186 – 1861S → P in RP4.
VAR_004810
Natural varianti188 – 1881G → E in RP4. 1 Publication
VAR_004811
Natural varianti188 – 1881G → R in RP4.
VAR_004812
Natural varianti190 – 1901D → G in RP4.
VAR_004814
Natural varianti190 – 1901D → N in RP4.
Corresponds to variant rs28933992 [ dbSNP | Ensembl ].
VAR_004813
Natural varianti190 – 1901D → Y in RP4.
VAR_004815
Natural varianti207 – 2071M → R in RP4. 1 Publication
Corresponds to variant rs28933995 [ dbSNP | Ensembl ].
VAR_004816
Natural varianti211 – 2111H → P in RP4.
Corresponds to variant rs28933993 [ dbSNP | Ensembl ].
VAR_004818
Natural varianti211 – 2111H → R in RP4. 1 Publication
VAR_004819
Natural varianti214 – 2141I → N in RP4. 1 Publication
VAR_068360
Natural varianti216 – 2161M → K in RP4. 1 Publication
VAR_004820
Natural varianti220 – 2201F → C in RP4.
VAR_004821
Natural varianti222 – 2221C → R in RP4.
VAR_004822
Natural varianti255 – 2551Missing in RP4. 1 Publication
VAR_004823
Natural varianti264 – 2641Missing in RP4.
VAR_004824
Natural varianti267 – 2671P → L in RP4. 1 Publication
VAR_004825
Natural varianti267 – 2671P → R in RP4. 1 Publication
VAR_004826
Natural varianti296 – 2961K → E in RP4.
Corresponds to variant rs29001653 [ dbSNP | Ensembl ].
VAR_004828
Natural varianti297 – 2971S → R in RP4. 1 Publication
VAR_004829
Natural varianti342 – 3421T → M in RP4.
VAR_004830
Natural varianti345 – 3451V → L in RP4. 1 Publication
VAR_004831
Natural varianti345 – 3451V → M in RP4.
VAR_004832
Natural varianti347 – 3471P → A in RP4. 1 Publication
VAR_004833
Natural varianti347 – 3471P → L in RP4; common variant. 2 Publications
VAR_004834
Natural varianti347 – 3471P → Q in RP4.
VAR_004835
Natural varianti347 – 3471P → R in RP4. 1 Publication
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004836
Natural varianti347 – 3471P → S in RP4. 1 Publication
Corresponds to variant rs29001637 [ dbSNP | Ensembl ].
VAR_004837
Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901G → D in CSNBAD1. 1 Publication
VAR_004783
Natural varianti94 – 941T → I in CSNBAD1. 1 Publication
VAR_004784
Natural varianti292 – 2921A → E in CSNBAD1. 1 Publication
VAR_004827

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi610445. phenotype.
613731. phenotype.
Orphaneti215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34390.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 348348RhodopsinPRO_0000197677Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineBy similarity
Glycosylationi2 – 21N-linked (GlcNAc...)By similarity
Glycosylationi15 – 151N-linked (GlcNAc...)By similarity
Disulfide bondi110 ↔ 187PROSITE-ProRule annotation
Modified residuei296 – 2961N6-(retinylidene)lysineBy similarity
Lipidationi322 – 3221S-palmitoyl cysteineBy similarity
Lipidationi323 – 3231S-palmitoyl cysteineBy similarity
Modified residuei334 – 3341PhosphoserineBy similarity
Modified residuei336 – 3361PhosphothreonineBy similarity
Modified residuei338 – 3381PhosphoserineBy similarity
Modified residuei340 – 3401PhosphothreonineBy similarity
Modified residuei342 – 3421PhosphothreonineBy similarity
Modified residuei343 – 3431PhosphoserineBy similarity

Post-translational modificationi

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
Contains one covalently linked retinal chromophore.By similarity

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

PaxDbiP08100.
PRIDEiP08100.

PTM databases

PhosphoSiteiP08100.
UniCarbKBiP08100.

Expressioni

Tissue specificityi

Rod shaped photoreceptor cells which mediates vision in dim light.

Gene expression databases

BgeeiP08100.
CleanExiHS_RHO.
GenevestigatoriP08100.

Interactioni

Subunit structurei

Homodimer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ZFYVE9O954052EBI-1394177,EBI-296817

Protein-protein interaction databases

BioGridi111942. 13 interactions.
IntActiP08100. 3 interactions.
STRINGi9606.ENSP00000296271.

Structurei

3D structure databases

ProteinModelPortaliP08100.
SMRiP08100. Positions 1-348.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni113 – 12513Retinal chromophore bindingBy similarityAdd
BLAST
Regioni207 – 2126Retinal chromophore bindingBy similarity

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi134 – 1374'Ionic lock' involved in activated form stabilization

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG311294.
GeneTreeiENSGT00760000118977.
HOGENOMiHOG000253932.
HOVERGENiHBG107442.
InParanoidiP08100.
KOiK04250.
OMAiLAAYMFM.
OrthoDBiEOG72NRQJ.
PhylomeDBiP08100.
TreeFamiTF324998.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
4.10.840.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR027430. Retinal_BS.
IPR000732. Rhodopsin.
IPR019477. Rhodopsin_N.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
PF10413. Rhodopsin_N. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00579. RHODOPSIN.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P08100-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNGTEGPNFY VPFSNATGVV RSPFEYPQYY LAEPWQFSML AAYMFLLIVL
60 70 80 90 100
GFPINFLTLY VTVQHKKLRT PLNYILLNLA VADLFMVLGG FTSTLYTSLH
110 120 130 140 150
GYFVFGPTGC NLEGFFATLG GEIALWSLVV LAIERYVVVC KPMSNFRFGE
160 170 180 190 200
NHAIMGVAFT WVMALACAAP PLAGWSRYIP EGLQCSCGID YYTLKPEVNN
210 220 230 240 250
ESFVIYMFVV HFTIPMIIIF FCYGQLVFTV KEAAAQQQES ATTQKAEKEV
260 270 280 290 300
TRMVIIMVIA FLICWVPYAS VAFYIFTHQG SNFGPIFMTI PAFFAKSAAI
310 320 330 340
YNPVIYIMMN KQFRNCMLTT ICCGKNPLGD DEASATVSKT ETSQVAPA
Length:348
Mass (Da):38,893
Last modified:August 1, 1988 - v1
Checksum:i6F4F6FCBA34265B2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41T → K in RP4.
VAR_004765
Natural varianti15 – 151N → S in RP4. 1 Publication
VAR_004766
Natural varianti17 – 171T → M in RP4. 2 Publications
VAR_004767
Natural varianti23 – 231P → H in RP4; most common variant, leads to interaction with EDEM1 followed by degradation by the ERAD system. 3 Publications
VAR_004768
Natural varianti23 – 231P → L in RP4.
VAR_004769
Natural varianti28 – 281Q → H in RP4.
VAR_004770
Natural varianti40 – 401L → R in RP4. 1 Publication
VAR_004771
Natural varianti44 – 441M → T in RP4. 1 Publication
VAR_004772
Natural varianti45 – 451F → L in RP4.
Corresponds to variant rs104893770 [ dbSNP | Ensembl ].
VAR_004773
Natural varianti46 – 461L → R in RP4.
VAR_004774
Natural varianti51 – 511G → A.1 Publication
Corresponds to variant rs149079952 [ dbSNP | Ensembl ].
VAR_004775
Natural varianti51 – 511G → R in RP4.
VAR_004776
Natural varianti51 – 511G → V in RP4.
VAR_004777
Natural varianti53 – 531P → R in RP4.
Corresponds to variant rs28933395 [ dbSNP | Ensembl ].
VAR_004778
Natural varianti58 – 581T → R in RP4. 2 Publications
Corresponds to variant rs28933394 [ dbSNP | Ensembl ].
VAR_004779
Natural varianti68 – 714Missing in RP4.
VAR_004780
Natural varianti87 – 871V → D in RP4.
VAR_004781
Natural varianti89 – 891G → D in RP4.
VAR_004782
Natural varianti90 – 901G → D in CSNBAD1. 1 Publication
VAR_004783
Natural varianti94 – 941T → I in CSNBAD1. 1 Publication
VAR_004784
Natural varianti104 – 1041V → I.1 Publication
Corresponds to variant rs144317206 [ dbSNP | Ensembl ].
VAR_004785
Natural varianti106 – 1061G → R in RP4. 1 Publication
Corresponds to variant rs28933994 [ dbSNP | Ensembl ].
VAR_004786
Natural varianti106 – 1061G → W in RP4.
VAR_004787
Natural varianti109 – 1091G → R in RP4. 1 Publication
VAR_004788
Natural varianti110 – 1101C → F in RP4. 1 Publication
VAR_004789
Natural varianti110 – 1101C → Y in RP4.
VAR_004790
Natural varianti114 – 1141G → D in RP4.
VAR_004791
Natural varianti125 – 1251L → R in RP4.
VAR_004792
Natural varianti127 – 1271S → F in RP4. 1 Publication
VAR_004793
Natural varianti131 – 1311L → P in RP4. 2 Publications
VAR_004794
Natural varianti135 – 1351R → G in RP4. 1 Publication
VAR_004795
Natural varianti135 – 1351R → L in RP4.
VAR_004796
Natural varianti135 – 1351R → W in RP4. 2 Publications
VAR_004797
Natural varianti140 – 1401C → S in RP4. 1 Publication
VAR_004798
Natural varianti150 – 1501E → K in RP4; autosomal recessive. 2 Publications
VAR_004799
Natural varianti164 – 1641A → E in RP4.
VAR_004800
Natural varianti164 – 1641A → V in RP4. 1 Publication
VAR_004801
Natural varianti167 – 1671C → R in RP4.
VAR_004802
Natural varianti171 – 1711P → L in RP4.
VAR_004803
Natural varianti171 – 1711P → Q in RP4. 1 Publication
VAR_004804
Natural varianti171 – 1711P → S in RP4.
VAR_004805
Natural varianti178 – 1781Y → C in RP4.
VAR_004806
Natural varianti178 – 1781Y → N in RP4. 1 Publication
VAR_004807
Natural varianti180 – 1801P → S in RP4. 1 Publication
VAR_068359
Natural varianti181 – 1811E → K in RP4.
VAR_004808
Natural varianti182 – 1821G → S in RP4. 1 Publication
VAR_004809
Natural varianti186 – 1861S → P in RP4.
VAR_004810
Natural varianti188 – 1881G → E in RP4. 1 Publication
VAR_004811
Natural varianti188 – 1881G → R in RP4.
VAR_004812
Natural varianti190 – 1901D → G in RP4.
VAR_004814
Natural varianti190 – 1901D → N in RP4.
Corresponds to variant rs28933992 [ dbSNP | Ensembl ].
VAR_004813
Natural varianti190 – 1901D → Y in RP4.
VAR_004815
Natural varianti207 – 2071M → R in RP4. 1 Publication
Corresponds to variant rs28933995 [ dbSNP | Ensembl ].
VAR_004816
Natural varianti209 – 2091V → M Effect not known. 1 Publication
VAR_004817
Natural varianti211 – 2111H → P in RP4.
Corresponds to variant rs28933993 [ dbSNP | Ensembl ].
VAR_004818
Natural varianti211 – 2111H → R in RP4. 1 Publication
VAR_004819
Natural varianti214 – 2141I → N in RP4. 1 Publication
VAR_068360
Natural varianti216 – 2161M → K in RP4. 1 Publication
VAR_004820
Natural varianti220 – 2201F → C in RP4.
VAR_004821
Natural varianti222 – 2221C → R in RP4.
VAR_004822
Natural varianti255 – 2551Missing in RP4. 1 Publication
VAR_004823
Natural varianti264 – 2641Missing in RP4.
VAR_004824
Natural varianti267 – 2671P → L in RP4. 1 Publication
VAR_004825
Natural varianti267 – 2671P → R in RP4. 1 Publication
VAR_004826
Natural varianti292 – 2921A → E in CSNBAD1. 1 Publication
VAR_004827
Natural varianti296 – 2961K → E in RP4.
Corresponds to variant rs29001653 [ dbSNP | Ensembl ].
VAR_004828
Natural varianti297 – 2971S → R in RP4. 1 Publication
VAR_004829
Natural varianti342 – 3421T → M in RP4.
VAR_004830
Natural varianti345 – 3451V → L in RP4. 1 Publication
VAR_004831
Natural varianti345 – 3451V → M in RP4.
VAR_004832
Natural varianti347 – 3471P → A in RP4. 1 Publication
VAR_004833
Natural varianti347 – 3471P → L in RP4; common variant. 2 Publications
VAR_004834
Natural varianti347 – 3471P → Q in RP4.
VAR_004835
Natural varianti347 – 3471P → R in RP4. 1 Publication
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004836
Natural varianti347 – 3471P → S in RP4. 1 Publication
Corresponds to variant rs29001637 [ dbSNP | Ensembl ].
VAR_004837

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49742 Genomic DNA. Translation: AAC31763.1.
AB065668 Genomic DNA. Translation: BAC05894.1.
BX537381 mRNA. Translation: CAD97623.1.
BC112104 mRNA. Translation: AAI12105.1.
BC112106 mRNA. Translation: AAI12107.1.
U16824 Genomic DNA. Translation: AAA97436.1.
S81166 Genomic DNA. Translation: AAB35906.1.
CCDSiCCDS3063.1.
PIRiA41200. OOHU.
RefSeqiNP_000530.1. NM_000539.3.
UniGeneiHs.247565.

Genome annotation databases

EnsembliENST00000296271; ENSP00000296271; ENSG00000163914.
GeneIDi6010.
KEGGihsa:6010.
UCSCiuc003emt.3. human.

Polymorphism databases

DMDMi129207.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the RHO gene

Retina International's Scientific Newsletter

Wikipedia

Rhodopsin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49742 Genomic DNA. Translation: AAC31763.1 .
AB065668 Genomic DNA. Translation: BAC05894.1 .
BX537381 mRNA. Translation: CAD97623.1 .
BC112104 mRNA. Translation: AAI12105.1 .
BC112106 mRNA. Translation: AAI12107.1 .
U16824 Genomic DNA. Translation: AAA97436.1 .
S81166 Genomic DNA. Translation: AAB35906.1 .
CCDSi CCDS3063.1.
PIRi A41200. OOHU.
RefSeqi NP_000530.1. NM_000539.3.
UniGenei Hs.247565.

3D structure databases

ProteinModelPortali P08100.
SMRi P08100. Positions 1-348.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111942. 13 interactions.
IntActi P08100. 3 interactions.
STRINGi 9606.ENSP00000296271.

Chemistry

DrugBanki DB01159. Halothane.

Protein family/group databases

TCDBi 9.A.14.1.2. the g-protein-coupled receptor (gpcr) family.
GPCRDBi Search...

PTM databases

PhosphoSitei P08100.
UniCarbKBi P08100.

Polymorphism databases

DMDMi 129207.

Proteomic databases

PaxDbi P08100.
PRIDEi P08100.

Protocols and materials databases

DNASUi 6010.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296271 ; ENSP00000296271 ; ENSG00000163914 .
GeneIDi 6010.
KEGGi hsa:6010.
UCSCi uc003emt.3. human.

Organism-specific databases

CTDi 6010.
GeneCardsi GC03P129247.
GeneReviewsi RHO.
HGNCi HGNC:10012. RHO.
MIMi 180380. gene.
610445. phenotype.
613731. phenotype.
neXtProti NX_P08100.
Orphaneti 215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBi PA34390.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG311294.
GeneTreei ENSGT00760000118977.
HOGENOMi HOG000253932.
HOVERGENi HBG107442.
InParanoidi P08100.
KOi K04250.
OMAi LAAYMFM.
OrthoDBi EOG72NRQJ.
PhylomeDBi P08100.
TreeFami TF324998.

Enzyme and pathway databases

Reactomei REACT_160156. The canonical retinoid cycle in rods (twilight vision).
REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_18426. Opsins.
REACT_19231. G alpha (i) signalling events.
SignaLinki P08100.

Miscellaneous databases

ChiTaRSi RHO. human.
GeneWikii Rhodopsin.
GenomeRNAii 6010.
NextBioi 23449.
PROi P08100.
SOURCEi Search...

Gene expression databases

Bgeei P08100.
CleanExi HS_RHO.
Genevestigatori P08100.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
4.10.840.10. 1 hit.
InterProi IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR027430. Retinal_BS.
IPR000732. Rhodopsin.
IPR019477. Rhodopsin_N.
[Graphical view ]
Pfami PF00001. 7tm_1. 1 hit.
PF10413. Rhodopsin_N. 1 hit.
[Graphical view ]
PRINTSi PR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00579. RHODOPSIN.
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and nucleotide sequence of the gene encoding human rhodopsin."
    Nathans J., Hogness D.S.
    Proc. Natl. Acad. Sci. U.S.A. 81:4851-4855(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Genome-wide discovery and analysis of human seven transmembrane helix receptor genes."
    Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S., Tsutsumi S., Aburatani H., Asai K., Akiyama Y.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Retina.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Sequence analysis of the 5.34-kb 5' flanking region of the human rhodopsin-encoding gene."
    Bennett J., Beller B., Sun D., Kariko K.
    Gene 167:317-320(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-120.
  6. "Rhodopsin mutations in autosomal dominant retinitis pigmentosa."
    Al-Maghtheh M., Gregory C., Inglehearn C., Hardcastle A., Bhattacharya S.
    Hum. Mutat. 2:249-255(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON RP4 VARIANTS.
  7. "Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline-->histidine substitution (codon 23) in pedigrees from Europe."
    Farrar G.J., Kenna P., Redmond R., McWilliam P., Bradley D.G., Humphries M.M., Sharp E.M., Inglehearn C.F., Bashir R., Jay M., Watty A., Ludwig M., Schinzel A., Samanns C., Gal A., Bhattacharya S.S., Humphries P.
    Am. J. Hum. Genet. 47:941-945(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4.
  8. "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa."
    Dryja T.P., McGee T.L., Reichei E., Hahn L.B., Cowley G.S., Yandell D.W., Sandberg M.A., Berson E.L.
    Nature 343:364-366(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 HIS-23.
  9. "Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa."
    Dryja T.P., McGee T.L., Hahn L.B., Cowley G.S., Olsson J.E., Reichel E., Sandberg M.A., Berson E.L.
    N. Engl. J. Med. 323:1302-1307(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4 HIS-23; ARG-58; LEU-347 AND SER-347.
  10. "A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa."
    Inglehearn C.F., Bashir R., Lester D.H., Jay M., Bird A.C., Bhattacharya S.S.
    Am. J. Hum. Genet. 48:26-30(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 ILE-255 DEL.
  11. "Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis."
    Sheffield V.C., Fishman G.A., Beck J.S., Kimura A.E., Stone E.M.
    Am. J. Hum. Genet. 49:699-706(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4 MET-17; HIS-23; ARG-58; SER-182 AND LEU-267.
  12. "Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa."
    Gal A., Artlich A., Ludwig M., Niemeyer G., Olek K., Schwinger E., Schinzel A.
    Genomics 11:468-470(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 ARG-347.
  13. Cited for: VARIANTS RP4.
  14. "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa."
    Dryja T.P., Hahn L.B., Cowley G.S., McGee T.L., Berson E.L.
    Proc. Natl. Acad. Sci. U.S.A. 88:9370-9374(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4.
  15. "Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family."
    Farrar G.J., Findlay J.B.C., Kumar-Singh R., Kenna P., Humphries M.M., Sharpe E., Humphries P.
    Hum. Mol. Genet. 1:769-771(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 ARG-207.
  16. "Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)."
    Fujiki K., Hotta Y., Hayakawa M., Sakuma H., Shiono T., Noro M., Sakuma T., Tamai M., Hikiji K., Kawaguchi R., Hoshi A., Nakajima A., Kanai A.
    Jpn. J. Hum. Genet. 37:125-132(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4 MET-17 AND LEU-347.
  17. "Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin."
    Macke J.P., Davenport C.M., Jacobson S.G., Hennessey J.C., Gonzalez-Fernandez F., Conway B.P., Heckenlively J., Palmer R., Maumenee I.H., Sieving P., Gouras P., Good W., Nathans J.
    Am. J. Hum. Genet. 53:80-89(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4 ARG-106; GLY-135; SER-140; GLU-188 AND ARG-211, VARIANTS ALA-51; ILE-104 AND MET-209.
  18. "Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin."
    Kranich H., Bartkowski S., Denton M.J., Krey S., Dickinson P., Duvigneau C., Gal A.
    Hum. Mol. Genet. 2:813-814(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 SER-15.
  19. "Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness."
    Dryja T.P., Berson E.L., Rao V.R., Oprian D.D.
    Nat. Genet. 4:280-283(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CSNBAD1 GLU-292.
  20. "Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa."
    Vaithinathan R., Berson E.L., Dryja T.P.
    Genomics 21:461-463(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4.
  21. "Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa."
    Reig C., Antich J., Gean E., Garcia-Sandoval B., Ramos C., Ayuso C., Carballo M.
    Hum. Genet. 94:283-286(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 THR-44.
  22. "Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa."
    Fuchs S., Kranich H., Denton M.J., Zrenner E., Bhattacharya S.S., Humphries P., Gal A.
    Hum. Mol. Genet. 3:1203-1203(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4 PHE-110; PRO-131 AND VAL-164.
  23. "Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa."
    Antinolo G., Sanchez B., Borrego S., Rueda T., Chaparro P., Cabeza J.C.
    Hum. Mol. Genet. 3:1421-1421(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 GLN-171.
  24. "Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa."
    Souied E., Gerber S., Rozet J.-M., Bonneau D., Dufier J.-L., Ghazi I., Philip N., Soubrane G., Coscas G., Munnich A.
    Hum. Mol. Genet. 3:1433-1434(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4 PHE-127; PRO-131; ASN-178; ARG-267 AND ARG-297.
  25. "Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa."
    Al-Maghtheh M., Inglehearn C., Lunt P., Jay M., Bird A., Bhattacharya S.
    Hum. Mutat. 3:409-410(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP4 ARG-40 AND LYS-216.
  26. "Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study."
    Rosas D.J., Roman A.J., Weissbrod P., Macke J.P., Nathans J.
    Invest. Ophthalmol. Vis. Sci. 35:3134-3144(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 LEU-345.
  27. Cited for: VARIANT ARRP LYS-150.
  28. "Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347."
    Macke J.P., Hennessey J.C., Nathans J.
    Hum. Mol. Genet. 4:775-776(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 ALA-347.
  29. "Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation."
    Sieving P.A., Richards J.E., Naarendorp F., Bingham E.L., Scott K., Alpern M.
    Proc. Natl. Acad. Sci. U.S.A. 92:880-884(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CSNBAD1 ASP-90.
  30. "Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene."
    Souied E., Soubrane G., Benlian P., Coscas G.J., Gerber S., Munnich A., Kaplan J.
    Am. J. Ophthalmol. 121:19-25(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 TRP-135.
  31. "Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa."
    Goliath R., Bardien S., September A., Martin R., Ramesar R., Greenberg J.
    Hum. Mutat. Suppl. 1:S40-S41(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 ARG-109.
  32. "A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness."
    Al-Jandal N., Farrar G.J., Kiang A.-S., Humphries M.M., Bannon N., Findlay J.B.C., Humphries P., Kenna P.F.
    Hum. Mutat. 13:75-81(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CSNBAD1 ILE-94.
  33. Cited for: CHARACTERIZATION OF VARIANT RP4 HIS-23, SUBCELLULAR LOCATION.
  34. "A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa."
    Azam M., Khan M.I., Gal A., Hussain A., Shah S.T., Khan M.S., Sadeque A., Bokhari H., Collin R.W., Orth U., van Genderen M.M., den Hollander A.I., Cremers F.P., Qamar R.
    Mol. Vis. 15:2526-2534(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP4 LYS-150.
  35. Cited for: VARIANTS RP4 TRP-135; SER-180 AND ASN-214.

Entry informationi

Entry nameiOPSD_HUMAN
AccessioniPrimary (citable) accession number: P08100
Secondary accession number(s): Q16414, Q2M249
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: November 26, 2014
This is version 170 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  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
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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