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Protein

Rhodopsin

Gene

RHO

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

Functioni

Photoreceptor required for image-forming vision at low light intensity (PubMed:8107847, PubMed:7846071). Required for photoreceptor cell viability after birth (PubMed:2215617, PubMed:12566452). Light-induced isomerization of the chromophore 11-cis-retinal to all-trans-retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (PubMed:28524165, PubMed:26200343).1 Publication6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei113Plays an important role in the conformation switch to the active conformation1 Publication1
Metal bindingi201ZincBy similarity1
Metal bindingi279ZincBy similarity1

GO - Molecular functioni

  • G-protein coupled photoreceptor activity Source: GO_Central
  • G-protein coupled receptor activity Source: ProtInc
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionG-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer
Biological processSensory transduction, Vision
LigandChromophore, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-2453902. The canonical retinoid cycle in rods (twilight vision).
R-HSA-2485179. Activation of the phototransduction cascade.
R-HSA-2514859. Inactivation, recovery and regulation of the phototransduction cascade.
R-HSA-418594. G alpha (i) signalling events.
R-HSA-419771. Opsins.
R-HSA-5620916. VxPx cargo-targeting to cilium.
SignaLinkiP08100.
SIGNORiP08100.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163914.4.
HGNCiHGNC:10012. RHO.
MIMi180380. gene.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 36Extracellular2 PublicationsAdd BLAST36
Transmembranei37 – 61Helical; Name=12 PublicationsAdd BLAST25
Topological domaini62 – 73Cytoplasmic2 PublicationsAdd BLAST12
Transmembranei74 – 96Helical; Name=22 PublicationsAdd BLAST23
Topological domaini97 – 110Extracellular2 PublicationsAdd BLAST14
Transmembranei111 – 133Helical; Name=32 PublicationsAdd BLAST23
Topological domaini134 – 152Cytoplasmic2 PublicationsAdd BLAST19
Transmembranei153 – 173Helical; Name=42 PublicationsAdd BLAST21
Topological domaini174 – 202Extracellular2 PublicationsAdd BLAST29
Transmembranei203 – 224Helical; Name=52 PublicationsAdd BLAST22
Topological domaini225 – 252Cytoplasmic2 PublicationsAdd BLAST28
Transmembranei253 – 274Helical; Name=62 PublicationsAdd BLAST22
Topological domaini275 – 284Extracellular2 Publications10
Transmembranei285 – 309Helical; Name=72 PublicationsAdd BLAST25
Topological domaini310 – 348Cytoplasmic2 PublicationsAdd BLAST39

Keywords - Cellular componenti

Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 4 (RP4)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613731
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0047654T → K in RP4. 1
Natural variantiVAR_00476615N → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893786Ensembl.1
Natural variantiVAR_00476717T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769Ensembl.1
Natural variantiVAR_00476823P → H in RP4; most common variant; impairs protein folding; leads to interaction with EDEM1 followed by degradation by the ERAD system. 5 PublicationsCorresponds to variant dbSNP:rs104893768Ensembl.1
Natural variantiVAR_00476923P → L in RP4. 1
Natural variantiVAR_00477028Q → H in RP4. 1
Natural variantiVAR_00477140L → R in RP4. 1 Publication1
Natural variantiVAR_00477244M → T in RP4. 1 PublicationCorresponds to variant dbSNP:rs774336493Ensembl.1
Natural variantiVAR_00477345F → L in RP4. Corresponds to variant dbSNP:rs104893770Ensembl.1
Natural variantiVAR_00477446L → R in RP4. 1
Natural variantiVAR_00477651G → R in RP4. Corresponds to variant dbSNP:rs104893792Ensembl.1
Natural variantiVAR_00477751G → V in RP4. 1
Natural variantiVAR_00477853P → R in RP4. Corresponds to variant dbSNP:rs28933395Ensembl.1
Natural variantiVAR_00477958T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394Ensembl.1
Natural variantiVAR_00478068 – 71Missing in RP4. 4
Natural variantiVAR_00478187V → D in RP4. Corresponds to variant dbSNP:rs104893771Ensembl.1
Natural variantiVAR_00478289G → D in RP4. Corresponds to variant dbSNP:rs104893772Ensembl.1
Natural variantiVAR_004786106G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893773Ensembl.1
Natural variantiVAR_004787106G → W in RP4. Corresponds to variant dbSNP:rs104893773Ensembl.1
Natural variantiVAR_004788109G → R in RP4. 1 Publication1
Natural variantiVAR_004789110C → F in RP4. 1 Publication1
Natural variantiVAR_004790110C → Y in RP4. Corresponds to variant dbSNP:rs104893787Ensembl.1
Natural variantiVAR_004791114G → D in RP4. Corresponds to variant dbSNP:rs104893788Ensembl.1
Natural variantiVAR_004792125L → R in RP4. 1
Natural variantiVAR_004793127S → F in RP4. 1 Publication1
Natural variantiVAR_004794131L → P in RP4. 2 Publications1
Natural variantiVAR_004795135R → G in RP4. 1 Publication1
Natural variantiVAR_004796135R → L in RP4. Corresponds to variant dbSNP:rs104893774Ensembl.1
Natural variantiVAR_004797135R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775Ensembl.1
Natural variantiVAR_004798140C → S in RP4. 1 Publication1
Natural variantiVAR_004799150E → K in RP4; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs104893791Ensembl.1
Natural variantiVAR_004800164A → E in RP4. Corresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004801164A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004802167C → R in RP4. 1
Natural variantiVAR_004803171P → L in RP4. 1
Natural variantiVAR_004804171P → Q in RP4. 1 Publication1
Natural variantiVAR_004805171P → S in RP4. Corresponds to variant dbSNP:rs104893794Ensembl.1
Natural variantiVAR_004806178Y → C in RP4. Corresponds to variant dbSNP:rs104893776Ensembl.1
Natural variantiVAR_004807178Y → N in RP4. 1 Publication1
Natural variantiVAR_068359180P → S in RP4. 1 Publication1
Natural variantiVAR_004808181E → K in RP4. Corresponds to variant dbSNP:rs775557680Ensembl.1
Natural variantiVAR_004809182G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780Ensembl.1
Natural variantiVAR_004810186S → P in RP4. 1
Natural variantiVAR_004811188G → E in RP4. 1 Publication1
Natural variantiVAR_004812188G → R in RP4. Corresponds to variant dbSNP:rs527236100Ensembl.1
Natural variantiVAR_004814190D → G in RP4. Corresponds to variant dbSNP:rs104893777Ensembl.1
Natural variantiVAR_004813190D → N in RP4. Corresponds to variant dbSNP:rs104893779Ensembl.1
Natural variantiVAR_004815190D → Y in RP4. Corresponds to variant dbSNP:rs104893779Ensembl.1
Natural variantiVAR_004816207M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893782Ensembl.1
Natural variantiVAR_004818211H → P in RP4. Corresponds to variant dbSNP:rs28933993Ensembl.1
Natural variantiVAR_004819211H → R in RP4. 1 Publication1
Natural variantiVAR_068360214I → N in RP4. 1 Publication1
Natural variantiVAR_004820216M → K in RP4. 1 Publication1
Natural variantiVAR_004821220F → C in RP4. Corresponds to variant dbSNP:rs766161322Ensembl.1
Natural variantiVAR_004822222C → R in RP4. 1
Natural variantiVAR_004823255Missing in RP4. 1 Publication1
Natural variantiVAR_004824264Missing in RP4. 1
Natural variantiVAR_004825267P → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893781Ensembl.1
Natural variantiVAR_004826267P → R in RP4. 1 Publication1
Natural variantiVAR_004828296K → E in RP4. Corresponds to variant dbSNP:rs29001653Ensembl.1
Natural variantiVAR_004829297S → R in RP4. 1 Publication1
Natural variantiVAR_004830342T → M in RP4. Corresponds to variant dbSNP:rs183318466Ensembl.1
Natural variantiVAR_004831345V → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004832345V → M in RP4. Corresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004833347P → A in RP4. 1 Publication1
Natural variantiVAR_004834347P → L in RP4; common variant. 2 PublicationsCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004835347P → Q in RP4. Corresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004836347P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004837347P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637Ensembl.1
Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
See also OMIM:610445
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00478390G → D in CSNBAD1; constitutive activity in the absence of bound retinal. 2 PublicationsCorresponds to variant dbSNP:rs104893790Ensembl.1
Natural variantiVAR_00478494T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796Ensembl.1
Natural variantiVAR_004827292A → E in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893789Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi113E → Q: Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Y-257. 1 Publication1
Mutagenesisi257M → Y: Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Q-113. 2 Publications1
Mutagenesisi336 – 340TVSKT → AVAKA: Loss of phosphorylation sites and decreased interaction with SAG. 1 Publication5
Mutagenesisi336 – 338TVS → AVA: Loss of phosphorylation sites and decreased interaction with SAG; when associated with A-343. 1 Publication3
Mutagenesisi343S → A: Loss of phosphorylation sites and decreased interaction with SAG; when associated with 336-A--A-338. 1 Publication1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi6010.
GeneReviewsiRHO.
MalaCardsiRHO.
MIMi610445. phenotype.
613731. phenotype.
OpenTargetsiENSG00000163914.
Orphaneti215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34390.

Chemistry databases

DrugBankiDB04233. (Hydroxyethyloxy)Tri(Ethyloxy)Octane.
DB03152. B-2-Octylglucoside.
DB01159. Halothane.
DB04450. Heptyl 1-Thiohexopyranoside.
DB03381. Hexadecanal.
DB04147. Lauryl Dimethylamine-N-Oxide.
DB01646. N-Acetylmethionine.
DB03796. Palmitic Acid.
DB04522. Phosphonoserine.
DB02482. Phosphonothreonine.

Polymorphism and mutation databases

BioMutaiRHO.
DMDMi129207.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001976771 – 348RhodopsinAdd BLAST348

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Glycosylationi2N-linked (GlcNAc...) asparagineBy similarity1
Glycosylationi15N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi110 ↔ 187PROSITE-ProRule annotation2 Publications
Modified residuei296N6-(retinylidene)lysineBy similarity1
Lipidationi322S-palmitoyl cysteineBy similarity1
Lipidationi323S-palmitoyl cysteineBy similarity1
Modified residuei334Phosphoserine1 Publication1
Modified residuei336Phosphothreonine1 Publication1
Modified residuei338Phosphoserine1 Publication1
Modified residuei340PhosphothreonineBy similarity1
Modified residuei342PhosphothreonineBy similarity1
Modified residuei343PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region (By similarity). After activation by light, phosphorylated by GRK1 (in vitro) (PubMed:28524165).By similarity1 Publication
Contains one covalently linked retinal chromophore. Upon light absorption, the covalently bound 11-cis-retinal is converted to all-trans-retinal. After hydrolysis of the Schiff base and release of the covalently bound all-trans-retinal, active rhodopsin is regenerated by binding of a fresh molecule of 11-cis-retinal(PubMed:12566452).1 Publication

Keywords - PTMi

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

Proteomic databases

PaxDbiP08100.
PeptideAtlasiP08100.
PRIDEiP08100.

PTM databases

iPTMnetiP08100.
PhosphoSitePlusiP08100.
UniCarbKBiP08100.

Expressioni

Tissue specificityi

Rod shaped photoreceptor cells which mediate vision in dim light.

Gene expression databases

BgeeiENSG00000163914.
CleanExiHS_RHO.
GenevisibleiP08100. HS.

Organism-specific databases

HPAiCAB022486.
HPA013440.

Interactioni

Subunit structurei

Homodimer (By similarity). Interacts (phosphorylated form) with SAG (PubMed:28524165, PubMed:26200343, PubMed:28753425). Interacts with GNAT1 (PubMed:26200343). Interacts with GNAT3. SAG and G-proteins compete for a common binding site (By similarity). Interacts with GRK1 (PubMed:28524165).By similarity3 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi111942. 11 interactors.
IntActiP08100. 3 interactors.
STRINGi9606.ENSP00000296271.

Structurei

Secondary structure

1348
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2 – 5Combined sources4
Beta strandi10 – 13Combined sources4
Beta strandi16 – 18Combined sources3
Turni23 – 25Combined sources3
Turni29 – 31Combined sources3
Helixi35 – 64Combined sources30
Helixi66 – 68Combined sources3
Turni71 – 73Combined sources3
Helixi74 – 88Combined sources15
Helixi90 – 100Combined sources11
Helixi106 – 140Combined sources35
Helixi143 – 147Combined sources5
Helixi150 – 168Combined sources19
Helixi170 – 173Combined sources4
Beta strandi174 – 176Combined sources3
Beta strandi178 – 181Combined sources4
Turni182 – 185Combined sources4
Beta strandi186 – 189Combined sources4
Beta strandi191 – 193Combined sources3
Turni196 – 199Combined sources4
Helixi200 – 209Combined sources10
Turni210 – 212Combined sources3
Helixi213 – 236Combined sources24
Helixi241 – 277Combined sources37
Helixi285 – 306Combined sources22
Turni307 – 309Combined sources3
Helixi311 – 321Combined sources11
Turni322 – 324Combined sources3
Turni331 – 333Combined sources3
Beta strandi339 – 341Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ZWJX-ray3.30A/B/C/D1-348[»]
5DGYX-ray7.70A/B/C/D1-348[»]
5W0PX-ray3.01A/B/C/D1-348[»]
ProteinModelPortaliP08100.
SMRiP08100.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni330 – 348Interaction with SAG2 PublicationsAdd BLAST19

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi134 – 136'Ionic lock' involved in activated form stabilization1 Publication3

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3656. Eukaryota.
ENOG410XRW9. LUCA.
GeneTreeiENSGT00760000118977.
HOGENOMiHOG000253932.
HOVERGENiHBG107442.
InParanoidiP08100.
KOiK04250.
OMAiLAAYMFM.
OrthoDBiEOG091G0BDA.
PhylomeDBiP08100.
TreeFamiTF324998.

Family and domain databases

Gene3Di4.10.840.10. 1 hit.
InterProiView protein in InterPro
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR027430. Retinal_BS.
IPR000732. Rhodopsin.
IPR019477. Rhodopsin_N.
IPR037114. Rhodopsin_N_sf.
PfamiView protein in Pfam
PF00001. 7tm_1. 1 hit.
PF10413. Rhodopsin_N. 1 hit.
PRINTSiPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00579. RHODOPSIN.
SMARTiView protein in SMART
SM01381. 7TM_GPCR_Srsx. 1 hit.
PROSITEiView protein in PROSITE
PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0047654T → K in RP4. 1
Natural variantiVAR_00476615N → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893786Ensembl.1
Natural variantiVAR_00476717T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769Ensembl.1
Natural variantiVAR_00476823P → H in RP4; most common variant; impairs protein folding; leads to interaction with EDEM1 followed by degradation by the ERAD system. 5 PublicationsCorresponds to variant dbSNP:rs104893768Ensembl.1
Natural variantiVAR_00476923P → L in RP4. 1
Natural variantiVAR_00477028Q → H in RP4. 1
Natural variantiVAR_00477140L → R in RP4. 1 Publication1
Natural variantiVAR_00477244M → T in RP4. 1 PublicationCorresponds to variant dbSNP:rs774336493Ensembl.1
Natural variantiVAR_00477345F → L in RP4. Corresponds to variant dbSNP:rs104893770Ensembl.1
Natural variantiVAR_00477446L → R in RP4. 1
Natural variantiVAR_00477551G → A1 PublicationCorresponds to variant dbSNP:rs149079952Ensembl.1
Natural variantiVAR_00477651G → R in RP4. Corresponds to variant dbSNP:rs104893792Ensembl.1
Natural variantiVAR_00477751G → V in RP4. 1
Natural variantiVAR_00477853P → R in RP4. Corresponds to variant dbSNP:rs28933395Ensembl.1
Natural variantiVAR_00477958T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394Ensembl.1
Natural variantiVAR_00478068 – 71Missing in RP4. 4
Natural variantiVAR_00478187V → D in RP4. Corresponds to variant dbSNP:rs104893771Ensembl.1
Natural variantiVAR_00478289G → D in RP4. Corresponds to variant dbSNP:rs104893772Ensembl.1
Natural variantiVAR_00478390G → D in CSNBAD1; constitutive activity in the absence of bound retinal. 2 PublicationsCorresponds to variant dbSNP:rs104893790Ensembl.1
Natural variantiVAR_00478494T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796Ensembl.1
Natural variantiVAR_004785104V → I Found in patients with pathologic myopia; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs144317206Ensembl.1
Natural variantiVAR_004786106G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893773Ensembl.1
Natural variantiVAR_004787106G → W in RP4. Corresponds to variant dbSNP:rs104893773Ensembl.1
Natural variantiVAR_004788109G → R in RP4. 1 Publication1
Natural variantiVAR_004789110C → F in RP4. 1 Publication1
Natural variantiVAR_004790110C → Y in RP4. Corresponds to variant dbSNP:rs104893787Ensembl.1
Natural variantiVAR_004791114G → D in RP4. Corresponds to variant dbSNP:rs104893788Ensembl.1
Natural variantiVAR_004792125L → R in RP4. 1
Natural variantiVAR_004793127S → F in RP4. 1 Publication1
Natural variantiVAR_004794131L → P in RP4. 2 Publications1
Natural variantiVAR_004795135R → G in RP4. 1 Publication1
Natural variantiVAR_004796135R → L in RP4. Corresponds to variant dbSNP:rs104893774Ensembl.1
Natural variantiVAR_004797135R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775Ensembl.1
Natural variantiVAR_004798140C → S in RP4. 1 Publication1
Natural variantiVAR_004799150E → K in RP4; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs104893791Ensembl.1
Natural variantiVAR_004800164A → E in RP4. Corresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004801164A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004802167C → R in RP4. 1
Natural variantiVAR_004803171P → L in RP4. 1
Natural variantiVAR_004804171P → Q in RP4. 1 Publication1
Natural variantiVAR_004805171P → S in RP4. Corresponds to variant dbSNP:rs104893794Ensembl.1
Natural variantiVAR_004806178Y → C in RP4. Corresponds to variant dbSNP:rs104893776Ensembl.1
Natural variantiVAR_004807178Y → N in RP4. 1 Publication1
Natural variantiVAR_068359180P → S in RP4. 1 Publication1
Natural variantiVAR_004808181E → K in RP4. Corresponds to variant dbSNP:rs775557680Ensembl.1
Natural variantiVAR_004809182G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780Ensembl.1
Natural variantiVAR_004810186S → P in RP4. 1
Natural variantiVAR_004811188G → E in RP4. 1 Publication1
Natural variantiVAR_004812188G → R in RP4. Corresponds to variant dbSNP:rs527236100Ensembl.1
Natural variantiVAR_004814190D → G in RP4. Corresponds to variant dbSNP:rs104893777Ensembl.1
Natural variantiVAR_004813190D → N in RP4. Corresponds to variant dbSNP:rs104893779Ensembl.1
Natural variantiVAR_004815190D → Y in RP4. Corresponds to variant dbSNP:rs104893779Ensembl.1
Natural variantiVAR_004816207M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893782Ensembl.1
Natural variantiVAR_004817209V → M Found in a patient with retinitis pigmentosa; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs567288669Ensembl.1
Natural variantiVAR_004818211H → P in RP4. Corresponds to variant dbSNP:rs28933993Ensembl.1
Natural variantiVAR_004819211H → R in RP4. 1 Publication1
Natural variantiVAR_068360214I → N in RP4. 1 Publication1
Natural variantiVAR_004820216M → K in RP4. 1 Publication1
Natural variantiVAR_004821220F → C in RP4. Corresponds to variant dbSNP:rs766161322Ensembl.1
Natural variantiVAR_004822222C → R in RP4. 1
Natural variantiVAR_004823255Missing in RP4. 1 Publication1
Natural variantiVAR_004824264Missing in RP4. 1
Natural variantiVAR_004825267P → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893781Ensembl.1
Natural variantiVAR_004826267P → R in RP4. 1 Publication1
Natural variantiVAR_004827292A → E in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893789Ensembl.1
Natural variantiVAR_004828296K → E in RP4. Corresponds to variant dbSNP:rs29001653Ensembl.1
Natural variantiVAR_004829297S → R in RP4. 1 Publication1
Natural variantiVAR_004830342T → M in RP4. Corresponds to variant dbSNP:rs183318466Ensembl.1
Natural variantiVAR_004831345V → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004832345V → M in RP4. Corresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004833347P → A in RP4. 1 Publication1
Natural variantiVAR_004834347P → L in RP4; common variant. 2 PublicationsCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004835347P → Q in RP4. Corresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004836347P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004837347P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637Ensembl.1

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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi