{ "uniprot_canonical_ac": "O95180-1", "uniprot_ac": "O95180", "uniprot_id": "CAC1H_HUMAN", "mass": { "chemical_mass": 259163.0, "monoisotopic_mass": 259163.0 }, "refseq": { "ac": "NP_001005407", "name": "voltage-dependent T-type calcium channel subunit alpha-1H isoform b", "summary": "This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" }, "gene_names": [ { "name": "CACNA1H", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95180", "id": "O95180" }, { "name": "CACNA1HB; Cav3.2; ECA6; EIG6; HALD4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407", "id": "NP_001005407" }, { "name": "CACNA1H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407", "id": "NP_001005407" } ], "protein_names": [ { "name": "Voltage-dependent T-type calcium channel subunit alpha-1H", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95180" }, { "name": "Low-voltage-activated calcium channel alpha1 3.2 subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95180" }, { "name": "Voltage-gated calcium channel subunit alpha Cav3.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95180" }, { "name": "calcium channel, voltage-dependent, T type, alpha 1Hb subunit; voltage-gated calcium channel alpha subunit Cav3.2; low-voltage-activated calcium channel alpha1 3.2 subunit; voltage-gated calcium channel alpha subunit CavT.2; voltage-dependent T-type calcium channel subunit alpha-1H; voltage dependent t-type calcium channel alpha-1H subunit; low-voltage-activated calcium channel alpha13.2 subunit; voltage-gated calcium channel subunit alpha Cav3.2; calcium channel, voltage-dependent, T type, alpha 1H subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407", "id": "NP_001005407" }, { "name": "voltage-dependent T-type calcium channel subunit alpha-1H isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407", "id": "NP_001005407" } ], "function": [ { "annotation": "A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" }, { "database": "PubMed", "id": "35757409", "url": "https://glygen.org/publication/PubMed/35757409" } ] }, { "annotation": "Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" }, { "database": "PubMed", "id": "36397158", "url": "https://glygen.org/publication/PubMed/36397158" } ] }, { "annotation": "Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" }, { "database": "PubMed", "id": "36128556", "url": "https://glygen.org/publication/PubMed/36128556" } ] }, { "annotation": "The T-type calcium channel CaV3.2 regulates insulin secretion in the pancreatic beta-cell.", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" }, { "database": "PubMed", "id": "36347081", "url": "https://glygen.org/publication/PubMed/36347081" } ] }, { "annotation": "This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" } ] }, { "annotation": "Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216).", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180#function" }, { "database": "PubMed", "id": "27729216", "url": "https://glygen.org/publication/PubMed/27729216" }, { "database": "PubMed", "id": "9930755", "url": "https://glygen.org/publication/PubMed/9930755" }, { "database": "PubMed", "id": "27149520", "url": "https://glygen.org/publication/PubMed/27149520" }, { "database": "PubMed", "id": "25907736", "url": "https://glygen.org/publication/PubMed/25907736" }, { "database": "PubMed", "id": "24277868", "url": "https://glygen.org/publication/PubMed/24277868" }, { "database": "PubMed", "id": "15048902", "url": "https://glygen.org/publication/PubMed/15048902" }, { "database": "PubMed", "id": "9670923", "url": "https://glygen.org/publication/PubMed/9670923" } ] }, { "annotation": "Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" }, { "database": "PubMed", "id": "36786913", "url": "https://glygen.org/publication/PubMed/36786913" } ] } ], "disease": [ { "disease_id": "MONDO:0012763", "recommended_name": { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "epilepsy, childhood absence, susceptibility to, 6", "description": "An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene." }, "synonyms": [ { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "ECA6", "description": "" }, { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "epilepsy, childhood absence, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "epilepsy, childhood absence, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "susceptibility to childhood absence epilepsy 6", "description": "" }, { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "CACNA1H childhood absence epilepsy", "description": "" }, { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "childhood absence epilepsy caused by mutation in CACNA1H", "description": "" }, { "id": "MONDO:0012763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012763", "name": "epilepsy, idiopathic generalized, susceptibility to, 6", "description": "" }, { "id": "MIM:611942", "resource": "MIM", "url": "https://www.omim.org/entry/611942", "name": "Epilepsy, childhood absence 6", "description": "Epilepsy, childhood absence 6" } ], "evidence": [ { "id": "611942", "database": "MIM", "url": "https://www.omim.org/entry/611942" } ] }, { "disease_id": "MONDO:0014875", "recommended_name": { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "hyperaldosteronism, familial, type IV", "description": "" }, "synonyms": [ { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "HALD4", "description": "" }, { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "familial hyperaldosteronism type IV", "description": "" }, { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "hyperaldosteronism, familial, type IV", "description": "" }, { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "hyperaldosteronism, familial, type IV; HALD4", "description": "" }, { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "FH 4", "description": "" }, { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "aldosteronism, primary, and hypertension", "description": "" }, { "id": "MONDO:0014875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014875", "name": "hyperaldosteronism, familial, type 4", "description": "" }, { "id": "MIM:617027", "resource": "MIM", "url": "https://www.omim.org/entry/617027", "name": "Hyperaldosteronism, familial, 4", "description": "Hyperaldosteronism, familial, 4" } ], "evidence": [ { "id": "617027", "database": "MIM", "url": "https://www.omim.org/entry/617027" } ] } ], "snv": [ { "evidence": [ { "id": "rs1440597628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1440597628" }, { "id": "rs1440597628", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1440597628" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 194, "end_pos": 194, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS); n-glyco-sequon-loss (NVS->NVN).", "chr_id": "16", "chr_pos": "1195961", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1453581368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453581368" }, { "id": "rs1453581368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453581368" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 627, "end_pos": 627, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS); o-glyco-site-loss (S->N).", "chr_id": "16", "chr_pos": "1202330", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs910844229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs910844229" }, { "id": "rs910844229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs910844229#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1032, "end_pos": 1032, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "16", "chr_pos": "1207800", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1032", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95180", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95180" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1033, "end_pos": 1033, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "16", "chr_pos": "1207805", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K1033", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": 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"A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1464479022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464479022" }, { "id": "rs1464479022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464479022" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1108, "end_pos": 1108, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "16", "chr_pos": "1208181", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs894318920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs894318920" }, { "id": "rs894318920", "database": "TOPMed", "url": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "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": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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 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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"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", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "common_name": "Human" } ], "gene": [ { "name": "CACNA1H", "url": "https://www.uniprot.org/uniprot/O95180", "locus": { "chromosome": "16", "start_pos": 1221771, "end_pos": 1153106, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000196557", "url": "https://www.ensembl.org/id/ENSG00000196557" } ] } } ], "crossref": [ { "id": "ENSG00000196557", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196557", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95180", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95180", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL1859", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1859", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CACNA1H", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1H", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8912", "url": "https://www.ncbi.nlm.nih.gov/gene/8912", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1395", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1395", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95180", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95180*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR005445", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005445", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005821", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005821", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043203", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043203", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8912", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8912", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "607904", "url": "http://www.omim.org/entry/607904", "database": "MIM", "categories": [ "Other" ] }, { "id": "611942", "url": "http://www.omim.org/entry/611942", "database": "MIM", "categories": [ "Other" ] }, { "id": "617027", "url": "http://www.omim.org/entry/617027", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95180", "url": "https://www.nextprot.org/entry/NX_O95180", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95180", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GQAWSCG", "url": "https://omabrowser.org/oma/group/GQAWSCG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1110761at2759", "url": "http://www.orthodb.org/?query=1110761at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10037", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10037:SF192", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10037:SF192", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00520", "url": "http://pfam.xfam.org/family/PF00520", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95180", "url": "https://pharos.nih.gov/targets/O95180", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95180", "url": "http://purl.obolibrary.org/obo/PR_O95180", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ19", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ19", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ19-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ19-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQW2", "url": "https://www.uniprot.org/uniprot/A0A1W2PQW2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQW2-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQW2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR14", "url": "https://www.uniprot.org/uniprot/A0A1W2PR14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR14-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PR14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS38", "url": "https://www.uniprot.org/uniprot/A0A1W2PS38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS38-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PS38-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMW6", "url": "https://www.uniprot.org/uniprot/H3BMW6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMW6-1", "url": "https://www.uniprot.org/uniprot/H3BMW6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNT0", "url": "https://www.uniprot.org/uniprot/H3BNT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNT0-1", "url": "https://www.uniprot.org/uniprot/H3BNT0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUA8", "url": "https://www.uniprot.org/uniprot/H3BUA8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUA8-1", "url": "https://www.uniprot.org/uniprot/H3BUA8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95180-1", "url": "https://www.uniprot.org/uniprot/O95180-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95180-2", "url": "https://www.uniprot.org/uniprot/O95180-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQKCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAINFDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYARWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPGPEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAASLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKIPHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESGDSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWVTFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEMLLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPALRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCTAATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSSRRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLDPRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV", "length": 2353, "header": "sp|O95180-1|CAC1H_HUMAN Isoform 1 of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=4 CANONICAL=O95180-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PQ19-1", "url": "", "sequence": { "sequence": "MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQKCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAINFDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKTGPGPWPSVGPQCALPPAQPPSGHTDL", "length": 489, "header": "tr|A0A1W2PQ19-1|CAC1H_HUMAN Computationally mapped isoform of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=1 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1204091, "end_pos": 1153738, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640028.1", "url": "https://www.ensembl.org/id/ENST00000640028.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491488.1", "url": "https://www.ensembl.org/id/ENSP00000491488.1" } ] } }, { "isoform_ac": "A0A1W2PQW2-1", "url": "", "sequence": { "sequence": "MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQKCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAINFDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYARWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPGPEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAASLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKIPHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESGDSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWVTFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEMLLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPALRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCTAATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSSRRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLDPRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQLLRAQHVRGRRGRELPQVPAAPGGGGGAAARGEAAAAPREEAQEHFPQPRGPAPALLCRLLAHAPLHSLAVHQPLSRPLHHLHHLCQRHHHVHGAL", "length": 1618, "header": "tr|A0A1W2PQW2-1|CAC1H_HUMAN Computationally mapped isoform of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=1 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1213918, "end_pos": 1153738, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639478.1", "url": "https://www.ensembl.org/id/ENST00000639478.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491945.1", "url": "https://www.ensembl.org/id/ENSP00000491945.1" } ] } }, { "isoform_ac": "A0A1W2PR14-1", "url": "", "sequence": { "sequence": "MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEMVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQKCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAINFDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYARWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPGPEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAASLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKIPHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESGDSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWVTFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEMLLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPALRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCTAATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSSRRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLDPRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV", "length": 2340, "header": "tr|A0A1W2PR14-1|CAC1H_HUMAN Computationally mapped isoform of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=1 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1220991, "end_pos": 1153738, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638323.1", "url": "https://www.ensembl.org/id/ENST00000638323.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492267.1", "url": "https://www.ensembl.org/id/ENSP00000492267.1" } ] } }, { "isoform_ac": "A0A1W2PS38-1", "url": "", "sequence": { "sequence": "LRIDSHREDAAELDDDSEDVSAWPWAHRRLAFVCLGAAASACIKCWSPTSPSGAGAARPGPSTSSPHRTGSASPARRSSHTRCLITWSSSSSSSTASPSPWRGLTLIPAAPSGSSSASPITSSRPSSWRR", "length": 130, "header": "tr|A0A1W2PS38-1|A0A1W2PS38_HUMAN Computationally mapped isoform of Calcium voltage-gated channel subunit alpha1 H OS=Homo sapiens OX=9606 GN=CACNA1H PE=4 SV=1 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1210640, "end_pos": 1209356, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637236.2", "url": "https://www.ensembl.org/id/ENST00000637236.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000492650.1", "url": "https://www.ensembl.org/id/ENSP00000492650.1" } ] } }, { "isoform_ac": "H3BMW6-1", "url": "", "sequence": { "sequence": "XPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRKAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV", "length": 1078, "header": "tr|H3BMW6-1|CAC1H_HUMAN Computationally mapped isoform of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=1 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1220993, "end_pos": 1210067, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562079.5", "url": "https://www.ensembl.org/id/ENST00000562079.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454581.1", "url": "https://www.ensembl.org/id/ENSP00000454581.1" } ] } }, { "isoform_ac": "H3BNT0-1", "url": "", "sequence": { "sequence": "XPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRSKALPVAVAVAEAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV", "length": 1100, "header": "tr|H3BNT0-1|CAC1H_HUMAN Computationally mapped isoform of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=1 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1220993, "end_pos": 1210067, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569107.5", "url": "https://www.ensembl.org/id/ENST00000569107.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454990.1", "url": "https://www.ensembl.org/id/ENSP00000454990.1" } ] } }, { "isoform_ac": "H3BUA8-1", "url": "", "sequence": { "sequence": "XPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV", "length": 1084, "header": "tr|H3BUA8-1|CAC1H_HUMAN Computationally mapped isoform of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=1 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1220993, "end_pos": 1210067, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564231.5", "url": "https://www.ensembl.org/id/ENST00000564231.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457555.1", "url": "https://www.ensembl.org/id/ENSP00000457555.1" } ] } }, { "isoform_ac": "O95180-1", "url": "", "sequence": { "sequence": "MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQKCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAINFDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYARWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPGPEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAASLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKIPHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESGDSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWVTFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEMLLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPALRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCTAATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSSRRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLDPRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV", "length": 2353, "header": "sp|O95180-1|CAC1H_HUMAN Isoform 1 of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=4 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1220991, "end_pos": 1153738, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000348261.11", "url": "https://www.ensembl.org/id/ENST00000348261.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000334198.7", "url": "https://www.ensembl.org/id/ENSP00000334198.7" } ] } }, { "isoform_ac": "O95180-2", "url": "", "sequence": { "sequence": 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"length": 2347, "header": "sp|O95180-2|CAC1H_HUMAN Isoform 2 of Voltage-dependent T-type calcium channel subunit alpha-1H OS=Homo sapiens OX=9606 GN=CACNA1H PE=1 SV=4 CANONICAL=O95180-1" }, "locus": { "chromosome": "16", "start_pos": 1220991, "end_pos": 1153738, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565831.6", "url": "https://www.ensembl.org/id/ENST00000565831.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000455840.1", "url": "https://www.ensembl.org/id/ENSP00000455840.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1466, "start_aa": "Asn", "end_pos": 1466, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1466", "evidence": [ { "id": "O95180", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95180#ptm_processing" }, { "id": "23503728", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/23503728" }, { "id": "23503728", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23503728" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "O95180", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95180#ptm_processing" }, { "id": "23503728", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/23503728" }, { "id": "23503728", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23503728" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2023, "start_aa": "Ser", "end_pos": 2023, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2023", "evidence": [ { "id": "O95180", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2277, "start_aa": "Ser", "end_pos": 2277, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2277", "evidence": [ { "id": "O95180", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 271, "start_aa": "Asn", "end_pos": 271, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn271", "evidence": [ { "id": "O95180", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95180#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 610, "start_aa": "Thr", "end_pos": 610, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr610", "evidence": [ { "id": "O95180", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 615, "start_aa": "Thr", "end_pos": 615, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr615", "evidence": [ { "id": "O95180", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 627, "start_aa": "Ser", "end_pos": 627, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser627", "evidence": [ { "id": "O95180", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 1107, "end_pos": 1107, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95180", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95180" }, { "database": "PubMed", "id": "19131331", "url": "https://glygen.org/publication/PubMed/19131331" } ], "site_lbl": "Ser1107" }, { "start_pos": 1144, "end_pos": 1144, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95180", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95180" }, { "database": "PubMed", "id": "19131331", "url": "https://glygen.org/publication/PubMed/19131331" } ], "site_lbl": "Ser1144" }, { "start_pos": 1191, "end_pos": 1191, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95180", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95180" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "O95180", "url": "http://phospho.elm.eu.org/byAccession/O95180.html" } ], "site_lbl": "Thr1191" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mibefradil block of cloned T-type calcium channels.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2000", "authors": "Martin RL, Lee JH, Cribbs LL, Perez-Reyes E, Hanck DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "10991994", "url": "https://glygen.org/publication/PubMed/10991994" } ] }, { "title": "NO-independent regulatory site on soluble guanylate cyclase.", "journal": "Nature", "date": "2001", "authors": "Stasch JP, Becker EM, Alonso-Alija C, Apeler H, Dembowsky K, Feurer A, Gerzer R, Minuth T, Perzborn E, Pleiss U, Schroder H, Schroeder W, Stahl E, Steinke W, Straub A, Schramm M", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11242081", "url": "https://glygen.org/publication/PubMed/11242081" } ] }, { "title": "Invited review: cross-bridge regulation by thin filament-associated proteins.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2001", "authors": "Morgan KG, Gangopadhyay SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11457814", "url": "https://glygen.org/publication/PubMed/11457814" } ] }, { "title": "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.", "journal": "Human molecular genetics", "date": "2001", "authors": "Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11532985", "url": "https://glygen.org/publication/PubMed/11532985" } ] }, { "title": "Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Jagannathan Suchitra, Punt Emma L, Gu Yuchun, Arnoult Christophe, Sakkas Denny, Barratt Christopher L R, Publicover Stephen J", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "11751928", "url": "https://glygen.org/publication/PubMed/11751928" } ] }, { "title": "Functional and biochemical analysis of endothelial (dys)function and NO/cGMP signaling in human blood vessels with and without nitroglycerin pretreatment.", "journal": "Circulation", "date": "2002", "authors": "Schulz E, Tsilimingas N, Rinze R, Reiter B, Wendt M, Oelze M, Woelken-Weckmuller S, Walter U, Reichenspurner H, Meinertz T, Munzel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11889009", "url": "https://glygen.org/publication/PubMed/11889009" } ] }, { "title": "Identification of the enzymatic mechanism of nitroglycerin bioactivation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Chen Z, Zhang J, Stamler JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "12048254", "url": "https://glygen.org/publication/PubMed/12048254" } ] }, { "title": "Polysialyltransferases: major players in polysialic acid synthesis on the neural cell adhesion molecule.", "journal": "Biochimie", "date": "2003", "authors": "Angata K, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "12765789", "url": "https://glygen.org/publication/PubMed/12765789" } ] }, { "title": "Association between genetic variation of CACNA1H and childhood absence epilepsy.", "journal": "Annals of neurology", "date": "2003", "authors": "Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "12891677", "url": "https://glygen.org/publication/PubMed/12891677" } ] }, { "title": "Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14506282", "url": "https://glygen.org/publication/PubMed/14506282" } ] }, { "title": "Smooth muscle contraction and relaxation.", "journal": "Advances in physiology education", "date": "2003", "authors": "Webb RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14627618", "url": "https://glygen.org/publication/PubMed/14627618" } ] }, { "title": "Genetic variation of CACNA1H in idiopathic generalized epilepsy.", "journal": "Annals of neurology", "date": "2004", "authors": "Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "15048902", "url": "https://glygen.org/publication/PubMed/15048902" } ] }, { "title": "Contribution of aldehyde dehydrogenase to mitochondrial bioactivation of nitroglycerin: evidence for the activation of purified soluble guanylate cyclase through direct formation of nitric oxide.", "journal": "The Biochemical journal", "date": "2005", "authors": "Kollau A, Hofer A, Russwurm M, Koesling D, Keung WM, Schmidt K, Brunner F, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "15377279", "url": "https://glygen.org/publication/PubMed/15377279" } ] }, { "title": "Human platelet myosin light chain kinase requires the calcium-binding protein calmodulin for activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1979", "authors": "Hathaway DR, Adelstein RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "156362", "url": "https://glygen.org/publication/PubMed/156362" } ] }, { "title": "Genetic ablation of polysialic acid causes severe neurodevelopmental defects rescued by deletion of the neural cell adhesion molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Weinhold B, Seidenfaden R, Rockle I, Muhlenhoff M, Schertzinger F, Conzelmann S, Marth JD, Gerardy-Schahn R, Hildebrandt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "16267048", "url": "https://glygen.org/publication/PubMed/16267048" } ] }, { "title": "Bioactivation of nitroglycerin by the mitochondrial aldehyde dehydrogenase.", "journal": "Trends in cardiovascular medicine", "date": "2006", "authors": "Chen Z, Stamler JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "17055381", "url": "https://glygen.org/publication/PubMed/17055381" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95180-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95180-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Polysialic acid in the plasticity of the developing and adult vertebrate nervous system.", "journal": "Nature reviews. Neuroscience", "date": "2008", "authors": "Rutishauser U", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18059411", "url": "https://glygen.org/publication/PubMed/18059411" } ] }, { "title": "missing tag=TI", "journal": "missing tag=JT", "date": "missing", "authors": "author information missing", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18607724", "url": "https://glygen.org/publication/PubMed/18607724" } ] }, { "title": "Molecular pharmacology of human Cav3.2 T-type Ca2+ channels: block by antihypertensives, antiarrhythmics, and their analogs.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2009", "authors": "Perez-Reyes E, Van Deusen AL, Vitko I", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "18974361", "url": "https://glygen.org/publication/PubMed/18974361" } ] }, { "title": "Protein kinase A activity controls the regulation of T-type CaV3.2 channels by Gbetagamma dimers.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Hu C, Depuy SD, Yao J, McIntire WE, Barrett PQ", "evidence": [ { "database": "iPTMnet", "id": "O95180", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95180" } ], "reference": [ { "type": "PubMed", "id": "19131331", "url": "https://glygen.org/publication/PubMed/19131331" } ] }, { "title": "The molecular anatomy of caldesmon.", "journal": "The Biochemical journal", "date": "1991", "authors": "Marston SB, Redwood CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "1930128", "url": "https://glygen.org/publication/PubMed/1930128" } ] }, { "title": "Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, Ma J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "19380584", "url": "https://glygen.org/publication/PubMed/19380584" } ] }, { "title": "Structural determinants of the high affinity extracellular zinc binding site on Cav3.2 T-type calcium channels.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Kang Ho-Won, Vitko Iuliia, Lee Sang-Soo, Perez-Reyes Edward, Lee Jung-Ha", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "19940152", "url": "https://glygen.org/publication/PubMed/19940152" } ] }, { "title": "In vivo imaging of molecular interactions at damaged sarcolemma.", "journal": "Developmental cell", "date": "2012", "authors": "Roostalu U, Strahle U", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22421042", "url": "https://glygen.org/publication/PubMed/22421042" } ] }, { "title": "Cinaciguat, a soluble guanylate cyclase activator, unloads the heart but also causes hypotension in acute decompensated heart failure.", "journal": "European heart journal", "date": "2013", "authors": "Erdmann E, Semigran MJ, Nieminen MS, Gheorghiade M, Agrawal R, Mitrovic V, Mebazaa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22778174", "url": "https://glygen.org/publication/PubMed/22778174" } ] }, { "title": "Surface expression and function of Cav3.2 T-type calcium channels are controlled by asparagine-linked glycosylation.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2013", "authors": "Weiss N, Black SA, Bladen C, Chen L, Zamponi GW", "evidence": [ { "database": "Automatic Literature Mining", "id": "23503728", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/23503728" } ], "reference": [ { "type": "PubMed", "id": "23503728", "url": "https://glygen.org/publication/PubMed/23503728" } ] }, { "title": "Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.", "journal": "Nature genetics", "date": "2013", "authors": "Dulak AM, Stojanov P, Peng S, Lawrence MS, Fox C, Stewart C, Bandla S, Imamura Y, Schumacher SE, Shefler E, McKenna A, Carter SL, Cibulskis K, Sivachenko A, Saksena G, Voet D, Ramos AH, Auclair D, Thompson K, Sougnez C, Onofrio RC, Guiducci C, Beroukhim R, Zhou Z, Lin L, Lin J, Reddy R, Chang A, Landrenau R, Pennathur A, Ogino S, Luketich JD, Golub TR, Gabriel SB, Lander ES, Beer DG, Godfrey TE, Getz G, Bass AJ", "evidence": [ { "database": "dbSNP", "id": "rs372126787", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372126787" } ], "reference": [ { "type": "PubMed", "id": "23525077", "url": "https://glygen.org/publication/PubMed/23525077" } ] }, { "title": "Low threshold T-type calcium channels as targets for novel epilepsy treatments.", "journal": "British journal of clinical pharmacology", "date": "2014", "authors": "Powell KL, Cain SM, Snutch TP, O'Brien TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "23834404", "url": "https://glygen.org/publication/PubMed/23834404" } ] }, { "title": "Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.", "journal": "The Journal of physiology", "date": "2014", "authors": "Eckle VS, Shcheglovitov A, Vitko I, Dey D, Yap CC, Winckler B, Perez-Reyes E", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "24277868", "url": "https://glygen.org/publication/PubMed/24277868" } ] }, { "title": "Calcium channel blockers in cardiovascular pharmacotherapy.", "journal": "Journal of cardiovascular pharmacology and therapeutics", "date": "2014", "authors": "Godfraind T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "24872348", "url": "https://glygen.org/publication/PubMed/24872348" } ] }, { "title": "Characterization and differential expression of human vascular smooth muscle myosin light chain 2 isoform in nonmuscle cells.", "journal": "Biochemistry", "date": "1989", "authors": "Kumar CC, Mohan SR, Zavodny PJ, Narula SK, Leibowitz PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2526655", "url": "https://glygen.org/publication/PubMed/2526655" } ] }, { "title": "Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.", "journal": "eLife", "date": "2015", "authors": "Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "25907736", "url": "https://glygen.org/publication/PubMed/25907736" } ] }, { "title": "The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential.", "journal": "Pharmacological reviews", "date": "2015", "authors": "Zamponi GW, Striessnig J, Koschak A, Dolphin AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "26362469", "url": "https://glygen.org/publication/PubMed/26362469" } ] }, { "title": "Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.", "journal": "Neuron", "date": "2015", "authors": "D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, Walsh CA", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "26637798", "url": "https://glygen.org/publication/PubMed/26637798" } ] }, { "title": "A Cav3.2/Stac1 molecular complex controls T-type channel expression at the plasma membrane.", "journal": "Channels (Austin, Tex.)", "date": "2016", "authors": "Rzhepetskyy Y, Lazniewska J, Proft J, Campiglio M, Flucher BE, Weiss N", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "27149520", "url": "https://glygen.org/publication/PubMed/27149520" } ] }, { "title": "The distribution of heavy-chain isoforms of myosin in airways smooth muscle from adult and neonate humans.", "journal": "The Biochemical journal", "date": "1989", "authors": "Mohammad MA, Sparrow MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2764880", "url": "https://glygen.org/publication/PubMed/2764880" } ] }, { "title": "Formation of Nitric Oxide by Aldehyde Dehydrogenase-2 Is Necessary and Sufficient for Vascular Bioactivation of Nitroglycerin.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Opelt M, Eroglu E, Waldeck-Weiermair M, Russwurm M, Koesling D, Malli R, Graier WF, Fassett JT, Schrammel A, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "27679490", "url": "https://glygen.org/publication/PubMed/27679490" } ] }, { "title": "CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.", "journal": "EBioMedicine", "date": "2016", "authors": "Daniil G, Fernandes-Rosa FL, Chemin J, Blesneac I, Beltrand J, Polak M, Jeunemaitre X, Boulkroun S, Amar L, Strom TM, Lory P, Zennaro MC", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "27729216", "url": "https://glygen.org/publication/PubMed/27729216" } ] }, { "title": "Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.", "journal": "Human mutation", "date": "2017", "authors": "Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdo S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A, Guerrini R", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "27864847", "url": "https://glygen.org/publication/PubMed/27864847" } ] }, { "title": "Binding properties of the neural cell adhesion molecule to different components of the extracellular matrix.", "journal": "Journal of neurochemistry", "date": "1989", "authors": "Probstmeier R, Kuhn K, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "2809592", "url": "https://glygen.org/publication/PubMed/2809592" } ] }, { "title": "Genetic modifiers of multiple sclerosis progression, severity and onset.", "journal": "Clin. Immunol.", "date": "2017", "authors": "Sadovnick AD, Traboulsee AL, Zhao Y, Bernales CQ, Encarnacion M, Ross JP, Yee IM, Criscuoli MG, Vilarino-Guell C", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "28501589", "url": "https://glygen.org/publication/PubMed/28501589" } ] }, { "title": "Direct comparison of tadalafil with sildenafil for the treatment of erectile dysfunction: a systematic review and meta-analysis.", "journal": "International urology and nephrology", "date": "2017", "authors": "Gong B, Ma M, Xie W, Yang X, Huang Y, Sun T, Luo Y, Huang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "28741090", "url": "https://glygen.org/publication/PubMed/28741090" } ] }, { "title": "Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.", "journal": "Cell", "date": "2018", "authors": "Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kuhn R, Krauss M, Diecke S, Pascual JM, Selbach M", "evidence": [ { "database": "UniProtKB", "id": "O95180", "url": "https://www.uniprot.org/uniprot/O95180" } ], "reference": [ { "type": "PubMed", "id": "30197081", "url": "https://glygen.org/publication/PubMed/30197081" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95180", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.", "journal": "Frontiers in endocrinology", "date": "2022", "authors": "Tseng CS, Peng KY, Wang SM, Tsai YC, Huang KH, Lin WC, Hu YH, Wu VC, Chueh JS", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" } ], "reference": [ { "type": "PubMed", "id": "35757409", "url": "https://glygen.org/publication/PubMed/35757409" } ] }, { "title": "Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.", "journal": "F1000Research", "date": "2022", "authors": "Liedtke W", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" } ], "reference": [ { "type": "PubMed", "id": "36128556", "url": "https://glygen.org/publication/PubMed/36128556" } ] }, { "title": "The T-type calcium channel CaV3.2 regulates insulin secretion in the pancreatic \u03b2-cell.", "journal": "Cell calcium", "date": "2022-12", "authors": "Barghouth Mohammad, Ye Yingying, Karagiannopoulos Alexandros, Ma Yunhan, Cowan Elaine, Wu Rui, Eliasson Lena, Renstr\u00f6m Erik, Luan Cheng, Zhang Enming", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" } ], "reference": [ { "type": "PubMed", "id": "36347081", "url": "https://glygen.org/publication/PubMed/36347081" } ] }, { "title": "Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia.", "journal": "Molecular brain", "date": "2022-11-17", "authors": "Mustaf\u00e1 Emilio R, Gambeta Eder, Stringer Robin N, Souza Ivana A, Zamponi Gerald W, Weiss Norbert", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" } ], "reference": [ { "type": "PubMed", "id": "36397158", "url": "https://glygen.org/publication/PubMed/36397158" } ] }, { "title": "Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.", "journal": "Molecular neurobiology", "date": "2023-02-14", "authors": "Maksemous Neven, Harder Aster V E, Ibrahim Omar, Vijfhuizen Lisanne S, Sutherland Heidi, Pelzer Nadine, de Boer Irene, Terwindt Gisela M, Lea Rodney A, van den Maagdenberg Arn M J M, Griffiths Lyn R", "evidence": [ { "database": "RefSeq", "id": "NP_001005407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005407" } ], "reference": [ { "type": "PubMed", "id": "36786913", "url": "https://glygen.org/publication/PubMed/36786913" } ] }, { "title": "Isoforms of myosin and actin in human, monkey and rat myometrium. Comparison of pregnant and non-pregnant uterus proteins.", "journal": "European journal of biochemistry", "date": "1986", "authors": "Cavaille F, Janmot C, Ropert S, d'Albis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "3780718", "url": "https://glygen.org/publication/PubMed/3780718" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95180", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95180" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Demonstration of (Ca(2+)-Mg2+)-ATPase activity of the neural cell adhesion molecule.", "journal": "FEBS letters", "date": "1993", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "8262246", "url": "https://glygen.org/publication/PubMed/8262246" } ] }, { "title": "Sildenafil: an orally active type 5 cyclic GMP-specific phosphodiesterase inhibitor for the treatment of penile erectile dysfunction.", "journal": "International journal of impotence research", "date": "1996", "authors": "Boolell M, Allen MJ, Ballard SA, Gepi-Attee S, Muirhead GJ, Naylor AM, Osterloh IH, Gingell C", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "8858389", "url": "https://glygen.org/publication/PubMed/8858389" } ] }, { "title": "Demonstration of an extracellular ATP-binding site in NCAM: functional implications of nucleotide binding.", "journal": "Biochemistry", "date": "1997", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "9398268", "url": "https://glygen.org/publication/PubMed/9398268" } ] }, { "title": "Cardiovascular T-type calcium channels: physiological and pharmacological significance.", "journal": "Journal of hypertension. 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