{ "uniprot_canonical_ac": "O14718-1", "uniprot_ac": "O14718", "uniprot_id": "OPSX_HUMAN", "mass": { "chemical_mass": 37423.0, "monoisotopic_mass": 37423.0 }, "refseq": { "ac": "NP_006574", "name": "visual pigment-like receptor peropsin", "summary": "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574" }, "gene_names": [ { "name": "RRH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14718", "id": "O14718" }, { "name": "RRH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574", "id": "NP_006574" } ], "protein_names": [ { "name": "Visual pigment-like receptor peropsin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14718" }, { "name": "peropsin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574", "id": "NP_006574" }, { "name": "visual pigment-like receptor peropsin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574", "id": "NP_006574" } ], "function": [ { "annotation": "By using chimeric mutant peropsins, it was found that peropsin potentially generates an 'active form' that drives G-protein signalling in the dark by binding to all-trans-retinal, and that the active form photo-converts to an inactive form containing 11-cis-retinal. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574" }, { "database": "PubMed", "id": "29476064", "url": "https://glygen.org/publication/PubMed/29476064" } ] }, { "annotation": "May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds.", "evidence": [ { "database": "UniProtKB", "id": "O14718", "url": "https://www.uniprot.org/uniprot/O14718#function" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]]", "evidence": [ { "database": "RefSeq", "id": "NP_006574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574" }, { "database": "PubMed", "id": "20332099", "url": "https://glygen.org/publication/PubMed/20332099" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_006574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574" } ] }, { "annotation": "Peropsin gene is not a common cause of retinitis pigmentosa or some related retinal degenerations, at least in the set of patients we analyzed. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574" }, { "database": "PubMed", "id": "17167409", "url": "https://glygen.org/publication/PubMed/17167409" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs771358077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771358077" }, { "id": "rs771358077", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771358077" }, { "id": "rs771358077", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771358077" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSL).", "chr_id": "4", "chr_pos": "109828056", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs796747997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796747997" }, { "id": "rs796747997", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs796747997#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLT->NLT).", "chr_id": "4", "chr_pos": "109835438", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14718", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14718" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 183, "end_pos": 183, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "4", "chr_pos": "109836156", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D183", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768756699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768756699" }, { "id": "rs768756699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768756699" }, { "id": "rs768756699", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768756699#frequency_tab" }, { "id": "rs768756699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768756699" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 199, "end_pos": 199, "sequence_org": "I", "sequence_mut": "T", 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{ "evidence": [ { "id": "rs1468362763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468362763" }, { "id": "rs1468362763", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468362763#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 240, "end_pos": 240, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "4", "chr_pos": "109837605", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144856430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144856430" }, { "id": "rs144856430", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144856430" }, { "id": "rs144856430", "database": "ExAC", "url": 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45, "end_pos": 45, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "4", "chr_pos": "109833166", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752431252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752431252" }, { "id": "rs752431252", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752431252" }, { "id": "rs752431252", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752431252#frequency_tab" }, { "id": "rs752431252", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752431252" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 68, "end_pos": 68, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain 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"namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "45.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000180245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180245" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000180245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180245" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000180245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180245" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14718" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14718" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": 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"start_pos": 109844195, "end_pos": 109833139, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652276.1", "url": "https://www.ensembl.org/id/ENST00000652276.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498977.1", "url": "https://www.ensembl.org/id/ENSP00000498977.1" } ] } }, { "isoform_ac": "O14718-1", "url": "", "sequence": { "sequence": "MLRNNLGNSSDSKNEDGSVFSQTEHNIVATYLIMAGMISIISNIIVLGIFIKYKELRTPTNAIIINLAVTDIGVSSIGYPMSAASDLYGSWKFGYAGCQVYAGLNIFFGMASIGLLTVVAVDRYLTICLPDVGRRMTTNTYIGLILGAWINGLFWALMPIIGWASYAPDPTGATCTINWRKNDRSFVSYTMTVIAINFIVPLTVMFYCYYHVTLSIKHHTTSDCTESLNRDWSDQIDVTKMSVIMICMFLVAWSPYSIVCLWASFGDPKKIPPPMAIIAPLFAKSSTFYNPCIYVVANKKFRRAMLAMFKCQTHQTMPVTSILPMDVSQNPLASGRI", "length": 337, "header": "sp|O14718-1|OPSX_HUMAN Isoform 1 of Visual pigment-like receptor peropsin OS=Homo sapiens OX=9606 GN=RRH PE=1 SV=1 CANONICAL=O14718-1" }, "locus": { "chromosome": "4", "start_pos": 109844194, "end_pos": 109828028, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317735.7", "url": "https://www.ensembl.org/id/ENST00000317735.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000314992.4", "url": "https://www.ensembl.org/id/ENSP00000314992.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 8, "start_aa": "Asn", "end_pos": 8, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn8", "evidence": [ { "id": "O14718", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14718#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Encephalopsin: a novel mammalian extraretinal opsin discretely localized in the brain.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "1999", "authors": "Blackshaw S, Snyder SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "10234000", "url": "https://glygen.org/publication/PubMed/10234000" } ] }, { "title": "Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.", "journal": "Nature genetics", "date": "1999", "authors": "Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "10581022", "url": "https://glygen.org/publication/PubMed/10581022" } ] }, { "title": "A novel human opsin in the inner retina.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2000", "authors": "Provencio I, Rodriguez IR, Jiang G, Hayes WP, Moreira EF, Rollag MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "10632589", "url": "https://glygen.org/publication/PubMed/10632589" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. 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Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "1302020", "url": "https://glygen.org/publication/PubMed/1302020" } ] }, { "title": "Neuropsin (Opn5): a novel opsin identified in mammalian neural tissue.", "journal": "FEBS letters", "date": "2003", "authors": "Tarttelin EE, Bellingham J, Hankins MW, Foster RG, Lucas RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "14623103", "url": "https://glygen.org/publication/PubMed/14623103" } ] }, { "title": "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.", "journal": "American journal of human genetics", "date": "1992", "authors": "Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "1531728", "url": "https://glygen.org/publication/PubMed/1531728" } ] }, { "title": "Polymorphism in red photopigment underlies variation in colour matching.", "journal": "Nature", "date": "1992", "authors": "Winderickx J, Lindsey DT, Sanocki E, Teller DY, Motulsky AG, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "1557123", "url": "https://glygen.org/publication/PubMed/1557123" } ] }, { "title": "Induction of photosensitivity by heterologous expression of melanopsin.", "journal": "Nature", "date": "2005", "authors": "Qiu X, Kumbalasiri T, Carlson SM, Wong KY, Krishna V, Provencio I, Berson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "15674243", "url": "https://glygen.org/publication/PubMed/15674243" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "The vertebrate phototransduction cascade: amplification and termination mechanisms.", "journal": "Reviews of physiology, biochemistry and pharmacology", "date": "2005", "authors": "Chen CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16634148", "url": "https://glygen.org/publication/PubMed/16634148" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.", "journal": "Molecular vision", "date": "2006", "authors": "Rivolta C, Berson EL, Dryja TP", "evidence": [ { "database": "RefSeq", "id": "NP_006574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574" } ], "reference": [ { "type": "PubMed", "id": "17167409", "url": "https://glygen.org/publication/PubMed/17167409" } ] }, { "title": "Structural diversity in the RGS domain and its interaction with heterotrimeric G protein alpha-subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" 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Structure of rat cDNAs and human genomic DNAs.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2834384", "url": "https://glygen.org/publication/PubMed/2834384" } ] }, { "title": "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Nathans J, Thomas D, Hogness DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "2937147", "url": "https://glygen.org/publication/PubMed/2937147" } ] }, { "title": "An all-trans-retinal-binding opsin peropsin as a potential dark-active and light-inactivated G protein-coupled receptor.", "journal": "Scientific reports", "date": "2018", "authors": "Nagata T, Koyanagi M, Lucas R, Terakita A", "evidence": [ { "database": "RefSeq", "id": "NP_006574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006574" } ], "reference": [ { "type": "PubMed", "id": "29476064", "url": "https://glygen.org/publication/PubMed/29476064" } ] }, { "title": "Isolation and nucleotide sequence of the gene encoding human rhodopsin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Nathans J, Hogness DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "6589631", "url": "https://glygen.org/publication/PubMed/6589631" } ] }, { "title": "Mechanism of GTP hydrolysis by G-protein alpha subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Kleuss C, Raw AS, Lee E, Sprang SR, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "7937899", "url": "https://glygen.org/publication/PubMed/7937899" } ] }, { "title": "A human opsin-related gene that encodes a retinaldehyde-binding protein.", "journal": "Biochemistry", "date": "1994", "authors": "Shen D, Jiang M, Hao W, Tao L, Salazar M, Fong HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "7947717", "url": "https://glygen.org/publication/PubMed/7947717" } ] }, { "title": "Human taste cells express the G protein alpha-gustducin and neuron-specific enolase.", "journal": "Brain research. 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