{ "uniprot_canonical_ac": "P10745-1", "uniprot_ac": "P10745", "uniprot_id": "RET3_HUMAN", "mass": { "chemical_mass": 135363.0, "monoisotopic_mass": 135363.0 }, "refseq": { "ac": "NP_002891", "name": "retinol-binding protein 3 precursor", "summary": "Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891" }, "gene_names": [ { "name": "RBP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10745", "id": "P10745" }, { "name": "D10S64; D10S65; D10S66; IRBP; RBPI; RP66", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891", "id": "NP_002891" }, { "name": "RBP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891", "id": "NP_002891" } ], "protein_names": [ { "name": "Retinol-binding protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10745" }, { "name": "IRBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10745" }, { "name": "Interphotoreceptor retinoid-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10745" }, { "name": "Interstitial retinol-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10745" }, { "name": "interphotoreceptor retinoid-binding protein; interstitial retinol binding protein 3; retinol binding protein 3, interstitial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891", "id": "NP_002891" }, { "name": "retinol-binding protein 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891", "id": "NP_002891" } ], "function": [ { "annotation": "Elevated Retinol Binding Protein 3 Concentrations Are Associated With Decreased Vitreous Inflammatory Cytokines, VEGF, and Progression of Diabetic Retinopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_002891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891" }, { "database": "PubMed", "id": "35852358", "url": "https://glygen.org/publication/PubMed/35852358" } ] }, { "annotation": "Elevated expression of photoreceptor-secreted RBP3 may have a role in protection against the progression of diabetic retinopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_002891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891" }, { "database": "PubMed", "id": "31270273", "url": "https://glygen.org/publication/PubMed/31270273" } ] }, { "annotation": "IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.", "evidence": [ { "database": "UniProtKB", "id": "P10745", "url": "https://www.uniprot.org/uniprot/P10745#function" } ] }, { "annotation": "Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891" } ] }, { "annotation": "This report is the first to describe the retinal dystrophy in children caused by homozygous nonsense RBP3 mutations, highlighting the requirement for IRBP in normal eye development and visual function.", "evidence": [ { "database": "RefSeq", "id": "NP_002891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891" }, { "database": "PubMed", "id": "25766589", "url": "https://glygen.org/publication/PubMed/25766589" } ] }, { "annotation": "Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3 Structure and Retinoids Binding for Functional Imaging of Eyes In Vivo. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891" }, { "database": "PubMed", "id": "36901838", "url": "https://glygen.org/publication/PubMed/36901838" } ] } ], "disease": [ { "disease_id": "DOID:0110393", "recommended_name": { "id": "DOID:0110393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110393", "name": "retinitis pigmentosa 66", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11." }, "synonyms": [ { "id": "DOID:0110393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110393", "name": "RP66", "description": "" }, { "id": "MONDO:0014093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014093", "name": "retinitis pigmentosa 66", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." }, { "id": "MONDO:0014093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014093", "name": "RBP3 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0014093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014093", "name": "RP66", "description": "" }, { "id": "MONDO:0014093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014093", "name": "retinitis pigmentosa 66", "description": "" }, { "id": "MONDO:0014093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014093", "name": "retinitis pigmentosa caused by mutation in RBP3", "description": "" }, { "id": "MONDO:0014093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014093", "name": "retinitis pigmentosa type 66", "description": "" }, { "id": "MIM:615233", "resource": "MIM", "url": "https://www.omim.org/entry/615233", "name": "Retinitis pigmentosa 66", "description": "Retinitis pigmentosa 66" } ], "evidence": [ { "id": "615233", "database": "MIM", "url": "https://www.omim.org/entry/615233" } ] } ], "snv": [ { "evidence": [ { "id": "rs1403864985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403864985" }, { "id": "rs1403864985", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1403864985#frequency_tab" }, { "id": "rs1403864985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403864985" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1030, "end_pos": 1030, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "10", "chr_pos": "47353360", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1481558190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481558190" }, { "id": "rs1481558190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1481558190#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1086, "end_pos": 1086, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIG->NIS).", "chr_id": "10", "chr_pos": "47355386", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555210930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555210930" }, { "id": "rs1555210930", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555210930" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 160, "end_pos": 160, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "10", "chr_pos": "47348963", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371068323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371068323" }, { "id": "rs371068323", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371068323" }, { "id": "rs371068323", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371068323" }, { "id": "rs371068323", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371068323#frequency_tab" }, { "id": "rs371068323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371068323" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 171, "end_pos": 171, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HCT->NCT).", "chr_id": "10", "chr_pos": "47348995", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "H171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781842157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781842157" }, { "id": "rs781842157", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781842157" }, { "id": "rs781842157", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781842157" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 203, "end_pos": 203, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRT).", "chr_id": "10", "chr_pos": "47349091", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555210978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555210978" }, { "id": "rs1555210978", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1555210978#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 207, "end_pos": 207, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTI).", "chr_id": "10", "chr_pos": "47349104", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10745", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10745" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 231, "end_pos": 231, "subjects_tested": "200", "subjects_positive": "1", "frequency": "0.5", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "10", "chr_pos": "47349176", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T231", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs527458754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527458754" }, { "id": "rs527458754", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527458754" }, { "id": "rs527458754", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs527458754#frequency_tab" }, { "id": "rs527458754", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527458754" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 375, "end_pos": 375, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAG->NAS).", "chr_id": "10", "chr_pos": "47349607", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G375", "disease": [ { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis 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out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "10", "chr_pos": "47349829", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D449", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782133131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782133131" }, { "id": "rs782133131", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782133131" }, { "id": "rs782133131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782133131#frequency_tab" }, { "id": "rs782133131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782133131" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 517, "end_pos": 517, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->NIA).", "chr_id": "10", "chr_pos": "47350033", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781974295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781974295" }, { "id": "rs781974295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781974295" }, { "id": "rs781974295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781974295#frequency_tab" }, { "id": "rs781974295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781974295" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 517, "end_pos": 517, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->NIM).", "chr_id": "10", "chr_pos": "47350034", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T517", "keywords": [ "ebi", "germline" ] }, { 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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": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P10745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10745" } ], "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P10745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10745" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10745", "url": 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"Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P10745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10745" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10745", "url": "https://www.uniprot.org/uniprot/P10745" } ], "common_name": "Human" } ], "gene": [ { "name": "RBP3", "url": "https://www.uniprot.org/uniprot/P10745", "locus": { "chromosome": "10", "start_pos": 47357881, "end_pos": 47348363, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000265203", "url": "https://www.ensembl.org/id/ENSG00000265203" } ] } } ], "crossref": [ { "id": "ENSG00000265203", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000265203", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P10745", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10745", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd07563", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07563", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "RBP3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBP3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5949", "url": "https://www.ncbi.nlm.nih.gov/gene/5949", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9921", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9921", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P10745", "url": "https://www.ebi.ac.uk/intact/interactors/id:P10745*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR005151", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005151", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029045", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029045", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5949", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5949", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "180290", "url": "http://www.omim.org/entry/180290", "database": "MIM", "categories": [ "Other" ] }, { "id": "615233", "url": "http://www.omim.org/entry/615233", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P10745", "url": "https://www.nextprot.org/entry/NX_P10745", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "VHKVWEP", "url": "https://omabrowser.org/oma/group/VHKVWEP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4157989at2759", "url": "http://www.orthodb.org/?query=4157989at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11261", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11261", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11261:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11261:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03572", "url": "http://pfam.xfam.org/family/PF03572", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF11918", "url": "http://pfam.xfam.org/family/PF11918", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10745", "url": "https://pharos.nih.gov/targets/P10745", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10745", "url": "http://purl.obolibrary.org/obo/PR_P10745", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P10745", "url": "https://www.uniprot.org/uniprot/P10745", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10745-1", "url": "https://www.uniprot.org/uniprot/P10745-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHEILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEAIRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVIDLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDLYILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMVILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGASDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL", "length": 1247, "header": "sp|P10745-1|RET3_HUMAN Isoform 1 of Retinol-binding protein 3 OS=Homo sapiens OX=9606 GN=RBP3 PE=1 SV=2 CANONICAL=P10745-1" }, "isoforms": [ { "isoform_ac": "P10745-1", "url": "", "sequence": { "sequence": 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"length": 1247, "header": "sp|P10745-1|RET3_HUMAN Isoform 1 of Retinol-binding protein 3 OS=Homo sapiens OX=9606 GN=RBP3 PE=1 SV=2 CANONICAL=P10745-1" }, "locus": { "chromosome": "10", "start_pos": 47357454, "end_pos": 47348485, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584701.2", "url": "https://www.ensembl.org/id/ENST00000584701.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000463151.1", "url": "https://www.ensembl.org/id/ENSP00000463151.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "evidence": [ { "id": "P10745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10745#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 515, "start_aa": "Asn", "end_pos": 515, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn515", "evidence": [ { "id": "P10745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10745#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sun H, Molday RS, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10075733", "url": "https://glygen.org/publication/PubMed/10075733" } ] }, { "title": "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.", "journal": "Molecular vision", "date": "1999", "authors": "Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10617778", "url": "https://glygen.org/publication/PubMed/10617778" } ] }, { "title": "Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10753906", "url": "https://glygen.org/publication/PubMed/10753906" } ] }, { "title": "The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.", "journal": "Biochemistry", "date": "2000", "authors": "Biswas EE, Biswas SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11123914", "url": "https://glygen.org/publication/PubMed/11123914" } ] }, { "title": "Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Folli C, Calderone V, Ottonello S, Bolchi A, Zanotti G, Stoppini M, Berni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11274389", "url": "https://glygen.org/publication/PubMed/11274389" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12036956", "url": "https://glygen.org/publication/PubMed/12036956" } ] }, { "title": "Rhodopsin with 11-cis-locked chromophore is capable of forming an active state photoproduct.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fan G, Siebert F, Sheves M, Vogel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12177057", "url": "https://glygen.org/publication/PubMed/12177057" } ] }, { "title": "Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight.", "journal": "Neuron", "date": "2002", "authors": "Mata NL, Radu RA, Clemmons RC, Travis GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "12367507", "url": "https://glygen.org/publication/PubMed/12367507" } ] }, { "title": "Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE.", "journal": "Investigative ophthalmology & visual science", "date": "2002", "authors": "Wu BX, Chen Y, Chen Y, Fan J, Rohrer B, Crouch RK, Ma JX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12407145", "url": "https://glygen.org/publication/PubMed/12407145" } ] }, { "title": "Retinosomes: new insights into intracellular managing of hydrophobic substances in lipid bodies.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Imanishi Y, Gerke V, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15314061", "url": "https://glygen.org/publication/PubMed/15314061" } ] }, { "title": "N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Beharry S, Zhong M, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15471866", "url": "https://glygen.org/publication/PubMed/15471866" } ] }, { "title": "Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.", "journal": "Biochemistry", "date": "2005", "authors": "Belyaeva OV, Korkina OV, Stetsenko AV, Kim T, Nelson PS, Kedishvili NY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15865448", "url": "https://glygen.org/publication/PubMed/15865448" } ] }, { "title": "A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters.", 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Similarities and differences as adjudged by peptide mapping and N-terminal sequencing.", "journal": "Biochem. 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