{ "uniprot_canonical_ac": "O95259-1", "uniprot_ac": "O95259", "uniprot_id": "KCNH1_HUMAN", "mass": { "chemical_mass": 111423.0, "monoisotopic_mass": 111423.0 }, "refseq": { "ac": "NP_002229", "name": "potassium voltage-gated channel subfamily H member 1 isoform 2", "summary": "Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229" }, "gene_names": [ { "name": "KCNH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95259", "id": "O95259" }, { "name": "EAG1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95259", "id": "O95259" }, { "name": "EAG; EAG1; h-eag; hEAG; hEAG1; K(V)10.1; Kv10.1; TMBTS; ZLS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229", "id": "NP_002229" }, { "name": "EAG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95259", "id": "O95259" }, { "name": "KCNH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229", "id": "NP_002229" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily H member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95259" }, { "name": "EAG channel 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95259" }, { "name": "Ether-a-go-go potassium channel 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95259" }, { "name": "Voltage-gated potassium channel subunit Kv10.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95259" }, { "name": "ether-a-go-go, Drosophila, homolog of; ether-a-go-go potassium channel 1; EAG channel 1; voltage-gated potassium channel subunit Kv10.1; potassium channel, voltage gated eag related subfamily H, member 1; potassium voltage-gated channel, subfamily H (eag-related), member 1; ether-a-go-go 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229", "id": "NP_002229" }, { "name": "h-eag", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95259" }, { "name": "hEAG1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95259" }, { "name": "potassium voltage-gated channel subfamily H member 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229", "id": "NP_002229" } ], "function": [ { "annotation": "Hysteretic hERG channel gating current recorded at physiological temperature. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229" }, { "database": "PubMed", "id": "35396394", "url": "https://glygen.org/publication/PubMed/35396394" } ] }, { "annotation": "Insights into the Molecular Inhibition of the Oncogenic Channel KV10.1 by Globular Toxins.", "evidence": [ { "database": "RefSeq", "id": "NP_002229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229" }, { "database": "PubMed", "id": "33900765", "url": "https://glygen.org/publication/PubMed/33900765" } ] }, { "annotation": "Molecular Dynamics-Derived Pharmacophore Model Explaining the Nonselective Aspect of KV10.1 Pore Blockers. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229" }, { "database": "PubMed", "id": "34445705", "url": "https://glygen.org/publication/PubMed/34445705" } ] }, { "annotation": "Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.", "evidence": [ { "database": "RefSeq", "id": "NP_002229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229" }, { "database": "PubMed", "id": "36285361", "url": "https://glygen.org/publication/PubMed/36285361" } ] }, { "annotation": "Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660). Channel properties are modulated by subunit assembly (PubMed:11943152). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642).", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259#function" }, { "database": "PubMed", "id": "27618660", "url": "https://glygen.org/publication/PubMed/27618660" }, { "database": "PubMed", "id": "22732247", "url": "https://glygen.org/publication/PubMed/22732247" }, { "database": "PubMed", "id": "25556795", "url": "https://glygen.org/publication/PubMed/25556795" }, { "database": "PubMed", "id": "23881642", "url": "https://glygen.org/publication/PubMed/23881642" }, { "database": "PubMed", "id": "27005320", "url": "https://glygen.org/publication/PubMed/27005320" }, { "database": "PubMed", "id": "10880439", "url": "https://glygen.org/publication/PubMed/10880439" }, { "database": "PubMed", "id": "11943152", "url": "https://glygen.org/publication/PubMed/11943152" }, { "database": "PubMed", "id": "27325704", "url": "https://glygen.org/publication/PubMed/27325704" }, { "database": "PubMed", "id": "9738473", "url": "https://glygen.org/publication/PubMed/9738473" } ] }, { "annotation": "Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_002229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229" }, { "database": "PubMed", "id": "35639255", "url": "https://glygen.org/publication/PubMed/35639255" } ] }, { "annotation": "Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229" } ] } ], "disease": [ { "disease_id": "MONDO:0012735", "recommended_name": { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "Temple-Baraitser syndrome", "description": "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." }, "synonyms": [ { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "TMBTS", "description": "" }, { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "Temple-Baraitser syndrome", "description": "" }, { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome", "description": "" }, { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "intellectual disability, severe, and absent nails of hallux and pollex", "description": "" }, { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "mental retardation, severe, and absent nails of hallux and pollex", "description": "" }, { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "severe intellectual disability and absent nails of hallux and pollex", "description": "" }, { "id": "MONDO:0012735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012735", "name": "severe mental retardation and absent nails of hallux and pollex", "description": "" }, { "id": "MIM:611816", "resource": "MIM", "url": "https://www.omim.org/entry/611816", "name": "Temple-Baraitser syndrome", "description": "Temple-Baraitser syndrome" } ], "evidence": [ { "id": "611816", "database": "MIM", "url": "https://www.omim.org/entry/611816" } ] }, { "disease_id": "MONDO:0024526", "recommended_name": { "id": "MONDO:0024526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024526", "name": "Zimmermann-Laband syndrome 1", "description": "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene." }, "synonyms": [ { "id": "MONDO:0024526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024526", "name": "KCNH1 Zimmermann-Laband syndrome", "description": "" }, { "id": "MONDO:0024526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024526", "name": "ZLS1", "description": "" }, { "id": "MONDO:0024526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024526", "name": "Zimmermann-Laband syndrome 1", "description": "" }, { "id": "MONDO:0024526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024526", "name": "Zimmermann-Laband syndrome caused by mutation in KCNH1", "description": "" }, { "id": "MONDO:0024526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024526", "name": "Laband syndrome", "description": "" }, { "id": "MONDO:0024526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024526", "name": "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly", "description": "" }, { "id": "MIM:135500", "resource": "MIM", "url": "https://www.omim.org/entry/135500", "name": "Zimmermann-Laband syndrome 1", "description": "Zimmermann-Laband syndrome 1" } ], "evidence": [ { "id": "135500", "database": "MIM", "url": "https://www.omim.org/entry/135500" } ] } ], "snv": [ { "evidence": [ { "id": "O95259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 132, "end_pos": 132, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "1", "chr_pos": "211090607", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D132", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O95259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "1", "chr_pos": "211090577", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D142", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772717752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772717752" }, { "id": "rs772717752", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772717752" }, { "id": "rs772717752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772717752" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 171, "end_pos": 171, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "211082826", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs727502822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502822" }, { "id": "rs727502822", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs727502822" }, { "id": "20683999", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20683999" }, { "id": "25420144", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25420144" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 217, "end_pos": 217, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "chr_id": "1", "chr_pos": "211019164", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95259" }, { "id": "rs747139848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747139848" }, { "id": "rs747139848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747139848" }, { "id": "rs747139848", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747139848" }, { "id": "rs747139848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747139848" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 249, "end_pos": 249, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "1", "chr_pos": "211019070", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A249", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs747626083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747626083" }, { "id": "rs747626083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747626083" }, { "id": "rs747626083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747626083#frequency_tab" }, { "id": "rs747626083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747626083" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 415, "end_pos": 415, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "1", "chr_pos": "210919859", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95259" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 415, "end_pos": 415, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->YNS).", "chr_id": "1", "chr_pos": "210919859", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N415", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": 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"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" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95259" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95259" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95259" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95259" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"http://www.orthodb.org/?query=66005at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10217", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10217:SF530", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10217:SF530", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5J7E", "url": "https://www.rcsb.org/structure/5J7E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00027", "url": "http://pfam.xfam.org/family/PF00027", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00520", "url": "http://pfam.xfam.org/family/PF00520", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13426", "url": "http://pfam.xfam.org/family/PF13426", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95259", "url": "https://pharos.nih.gov/targets/O95259", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95259", "url": "http://purl.obolibrary.org/obo/PR_O95259", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1296072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296072", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002229", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0S1TJ81", "url": "https://www.uniprot.org/uniprot/A0A0S1TJ81", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0S1TJ81-1", "url": "https://www.uniprot.org/uniprot/A0A0S1TJ81-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNI2", "url": "https://www.uniprot.org/uniprot/A0A1W2PNI2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNI2-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PNI2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PP68", "url": "https://www.uniprot.org/uniprot/A0A1W2PP68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PP68-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PP68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPA2", "url": "https://www.uniprot.org/uniprot/A0A1W2PPA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPA2-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPA2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRD8", "url": "https://www.uniprot.org/uniprot/A0A1W2PRD8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRD8-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRD8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRG6", "url": "https://www.uniprot.org/uniprot/A0A1W2PRG6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRG6-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRG6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRV9", "url": "https://www.uniprot.org/uniprot/A0A1W2PRV9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRV9-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRV9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRZ5", "url": "https://www.uniprot.org/uniprot/A0A1W2PRZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRZ5-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS62", "url": "https://www.uniprot.org/uniprot/A0A1W2PS62", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS62-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PS62-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1X7SBS6", "url": "https://www.uniprot.org/uniprot/A0A1X7SBS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1X7SBS6-1", "url": "https://www.uniprot.org/uniprot/A0A1X7SBS6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95259-1", "url": "https://www.uniprot.org/uniprot/O95259-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95259-2", "url": "https://www.uniprot.org/uniprot/O95259-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTSRRSSQSPQELFEISRPQSPESERDIFGAS", "length": 989, "header": "sp|O95259-1|KCNH1_HUMAN Isoform 1 of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "isoforms": [ { "isoform_ac": "A0A0S1TJ81-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTSRRSSQSPQELFEISRPQSPESERDIFGAS", "length": 454, "header": "tr|A0A0S1TJ81-1|A0A0S1TJ81_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210683284, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640566.1", "url": "https://www.ensembl.org/id/ENST00000640566.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491302.1", "url": "https://www.ensembl.org/id/ENSP00000491302.1" } ] } }, { "isoform_ac": "A0A1W2PNI2-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEGLTLLPRLVSNS", "length": 940, "header": "tr|A0A1W2PNI2-1|A0A1W2PNI2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210677345, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638498.1", "url": "https://www.ensembl.org/id/ENST00000638498.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490983.1", "url": "https://www.ensembl.org/id/ENSP00000490983.1" } ] } }, { "isoform_ac": "A0A1W2PP68-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQHFSMPPSSGM", "length": 354, "header": "tr|A0A1W2PP68-1|A0A1W2PP68_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210804137, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640522.1", "url": "https://www.ensembl.org/id/ENST00000640522.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491019.1", "url": "https://www.ensembl.org/id/ENSP00000491019.1" } ] } }, { "isoform_ac": "A0A1W2PPA2-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNTLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTSRRSSQSPQELFEISRPQSPESERDIFGAS", "length": 605, "header": "tr|A0A1W2PPA2-1|A0A1W2PPA2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210683284, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640044.1", "url": "https://www.ensembl.org/id/ENST00000640044.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491434.1", "url": "https://www.ensembl.org/id/ENSP00000491434.1" } ] } }, { "isoform_ac": "A0A1W2PRD8-1", "url": "", "sequence": { "sequence": "XHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLELLCPPPGGDFMILSALTANIREKNIFSPKVFMLRSFNFYPLQLKRINVNLSAA", "length": 208, "header": "tr|A0A1W2PRD8-1|A0A1W2PRD8_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 210683929, "end_pos": 210679008, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640625.1", "url": "https://www.ensembl.org/id/ENST00000640625.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492609.1", "url": "https://www.ensembl.org/id/ENSP00000492609.1" } ] } }, { "isoform_ac": "A0A1W2PRG6-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNSWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGYADEELWEEDPYEYIRMKFDVSEDFISFATAAQKLLFTAHSKRKEVLQKTMGFCYQILTEPNADL", "length": 482, "header": "tr|A0A1W2PRG6-1|KCNH1_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210861001, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639602.1", "url": "https://www.ensembl.org/id/ENST00000639602.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492303.1", "url": "https://www.ensembl.org/id/ENSP00000492303.1" } ] } }, { "isoform_ac": "A0A1W2PRV9-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEHFSMPPSSGM", "length": 327, "header": "tr|A0A1W2PRV9-1|A0A1W2PRV9_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210804137, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640243.1", "url": "https://www.ensembl.org/id/ENST00000640243.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492803.1", "url": "https://www.ensembl.org/id/ENSP00000492803.1" } ] } }, { "isoform_ac": "A0A1W2PRZ5-1", "url": "", "sequence": { "sequence": "XQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILDCVPEDQRCET", "length": 427, "header": "tr|A0A1W2PRZ5-1|A0A1W2PRZ5_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211019228, "end_pos": 210684106, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638357.1", "url": "https://www.ensembl.org/id/ENST00000638357.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492865.1", "url": "https://www.ensembl.org/id/ENSP00000492865.1" } ] } }, { "isoform_ac": "A0A1W2PS62-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEMLMRNFGKKTLTSIYA", "length": 333, "header": "tr|A0A1W2PS62-1|A0A1W2PS62_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210861147, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638983.1", "url": "https://www.ensembl.org/id/ENST00000638983.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492641.1", "url": "https://www.ensembl.org/id/ENSP00000492641.1" } ] } }, { "isoform_ac": "A0A1X7SBS6-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEGLTLLPRLVSNS", "length": 913, "header": "tr|A0A1X7SBS6-1|A0A1X7SBS6_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210677345, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367007.5", "url": "https://www.ensembl.org/id/ENST00000367007.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000355974.5", "url": "https://www.ensembl.org/id/ENSP00000355974.5" } ] } }, { "isoform_ac": "O95259-1", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTSRRSSQSPQELFEISRPQSPESERDIFGAS", "length": 989, "header": "sp|O95259-1|KCNH1_HUMAN Isoform 1 of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210683284, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000271751.10", "url": "https://www.ensembl.org/id/ENST00000271751.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000271751.4", "url": "https://www.ensembl.org/id/ENSP00000271751.4" } ] } }, { "isoform_ac": "O95259-2", "url": "", "sequence": { "sequence": "MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTSRRSSQSPQELFEISRPQSPESERDIFGAS", "length": 962, "header": "sp|O95259-2|KCNH1_HUMAN Isoform 2 of Potassium voltage-gated channel subfamily H member 1 OS=Homo sapiens OX=9606 GN=KCNH1 PE=1 SV=1 CANONICAL=O95259-1" }, "locus": { "chromosome": "1", "start_pos": 211133945, "end_pos": 210683284, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639952.1", "url": "https://www.ensembl.org/id/ENST00000639952.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492697.1", "url": "https://www.ensembl.org/id/ENSP00000492697.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 171, "start_aa": "Ser", "end_pos": 171, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser171", "evidence": [ { "id": "O95259", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95259" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 415, "start_aa": "Asn", "end_pos": 415, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn415", "evidence": [ { "id": "O95259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 433, "start_aa": "Asn", "end_pos": 433, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn433", "evidence": [ { "id": "O95259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95259#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": 866, "start_aa": "Thr", "end_pos": 866, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr866", "evidence": [ { "id": "O95259", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95259" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "O95259", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95259" } ] } ], "phosphorylation": [ { "start_pos": 974, "end_pos": 974, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "site_lbl": "Ser974" }, { "start_pos": 978, "end_pos": 978, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "site_lbl": "Ser978" }, { "start_pos": 981, "end_pos": 981, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "site_lbl": "Ser981" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Oncogenic potential of EAG K(+) channels.", "journal": "EMBO J.", "date": "1999", "authors": "Pardo LA, del Camino D, Sanchez A, Alves F, Bruggemann A, Beckh S, Stuhmer W", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "10523298", "url": "https://glygen.org/publication/PubMed/10523298" } ] }, { "title": "Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin.", "journal": "The EMBO journal", "date": "2000", "authors": "Schonherr R, Lober K, Heinemann SH", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "10880439", "url": "https://glygen.org/publication/PubMed/10880439" } ] }, { "title": "Functional distinction of human EAG1 and EAG2 potassium channels.", "journal": "FEBS letters", "date": "2002-03-13", "authors": "Sch\u00f6nherr Roland, Gessner Guido, L\u00f6ber Karsten, Heinemann Stefan H", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "11943152", "url": "https://glygen.org/publication/PubMed/11943152" } ] }, { "title": "Ancillary subunits associated with voltage-dependent K+ channels.", "journal": "Physiological reviews", "date": "2010", "authors": "Pongs O, Schwarz JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1296072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296072" } ], "reference": [ { "type": "PubMed", "id": "20393197", "url": "https://glygen.org/publication/PubMed/20393197" } ] }, { "title": "Temple-Baraitser syndrome: a rare and possibly unrecognized condition.", "journal": "American journal of medical genetics. Part A", "date": "2010", "authors": "Jacquinet A, Gerard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG", "evidence": [ { "database": "dbSNP", "id": "rs727502822", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502822" } ], "reference": [ { "type": "PubMed", "id": "20683999", "url": "https://glygen.org/publication/PubMed/20683999" } ] }, { "title": "Inhibition of the heterotetrameric K+ channel KCNQ1/KCNE1 by the AMP-activated protein kinase.", "journal": "Molecular membrane biology", "date": "2011", "authors": "Alesutan I, Foller M, Sopjani M, Dermaku-Sopjani M, Zelenak C, Frohlich H, Velic A, Fraser S, Kemp BE, Seebohm G, Volkl H, Lang F", "evidence": [ { "database": "Reactome", "id": "R-HSA-1296072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296072" } ], "reference": [ { "type": "PubMed", "id": "21231794", "url": "https://glygen.org/publication/PubMed/21231794" } ] }, { "title": "Functional K(v)10.1 channels localize to the inner nuclear membrane.", "journal": "PLoS ONE", "date": "2011", "authors": "Chen Ye, S\u00e1nchez Araceli, Rubio Mar\u00eda E, Kohl Tobias, Pardo Luis A, St\u00fchmer Walter", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "21559285", "url": "https://glygen.org/publication/PubMed/21559285" } ] }, { "title": "Structural, biochemical, and functional characterization of the cyclic nucleotide binding homology domain from the mouse EAG1 potassium channel.", "journal": "Journal of molecular biology", "date": "2012", "authors": "Marques-Carvalho MJ, Sahoo N, Muskett FW, Vieira-Pires RS, Gabant G, Cadene M, Schonherr R, Morais-Cabral JH", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "22732247", "url": "https://glygen.org/publication/PubMed/22732247" } ] }, { "title": "Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking.", "journal": "FEBS Lett.", "date": "2012", "authors": "Ninkovic M, Mitkovski M, Kohl T, Stuhmer W, Pardo LA", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "22841712", "url": "https://glygen.org/publication/PubMed/22841712" } ] }, { "title": "Cortactin controls surface expression of the voltage-gated potassium channel K(V)10.1.", "journal": "J. Biol. Chem.", "date": "2012", "authors": "Herrmann Solveig, Ninkovic Milena, Kohl Tobias, L\u00f6rinczi \u00c9va, Pardo Luis A", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "23144454", "url": "https://glygen.org/publication/PubMed/23144454" } ] }, { "title": "BKCa and hEag1 channels regulate cell proliferation and differentiation in human bone marrow-derived mesenchymal stem cells.", "journal": "Journal of cellular physiology", "date": "2014-02", "authors": "Zhang Ying-Ying, Yue Jianbo, Che Hui, Sun Hai-Ying, Tse Hung-Fat, Li Gui-Rong", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "23881642", "url": "https://glygen.org/publication/PubMed/23881642" } ] }, { "title": "Regulation of hERG and hEAG channels by Src and by SHP-1 tyrosine phosphatase via an ITIM region in the cyclic nucleotide binding domain.", "journal": "PloS one", "date": "2014", "authors": "Schlichter LC, Jiang J, Wang J, Newell EW, Tsui FW, Lam D", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "24587194", "url": "https://glygen.org/publication/PubMed/24587194" } ] }, { "title": "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.", "journal": "Nature genetics", "date": "2015", "authors": "Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" }, { "database": "dbSNP", "id": "rs727502822", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502822" } ], "reference": [ { "type": "PubMed", "id": "25420144", "url": "https://glygen.org/publication/PubMed/25420144" } ] }, { "title": "KV 10.1 opposes activity-dependent increase in Ca(2)(+) influx into the presynaptic terminal of the parallel fibre-Purkinje cell synapse.", "journal": "The Journal of physiology", "date": "2015", "authors": "Mortensen LS, Schmidt H, Farsi Z, Barrantes-Freer A, Rubio ME, Ufartes R, Eilers J, Sakaba T, Stuhmer W, Pardo LA", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "25556795", "url": "https://glygen.org/publication/PubMed/25556795" } ] }, { "title": "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.", "journal": "Nature genetics", "date": "2015", "authors": "Kortum F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "25915598", "url": "https://glygen.org/publication/PubMed/25915598" } ] }, { "title": "Alternatively Spliced Isoforms of KV10.1 Potassium Channels Modulate Channel Properties and Can Activate Cyclin-dependent Kinase in Xenopus Oocytes.", "journal": "J. Biol. Chem.", "date": "2015", "authors": "Ramos Gomes Fernanda, Romaniello Vincenzo, S\u00e1nchez Araceli, Weber Claudia, Narayanan Pratibha, Psol Maryna, Pardo Luis A", "evidence": [ { "database": "UniProtKB", "id": "A0A0S1TJ81", "url": "https://www.uniprot.org/uniprot/A0A0S1TJ81" } ], "reference": [ { "type": "PubMed", "id": "26518875", "url": "https://glygen.org/publication/PubMed/26518875" } ] }, { "title": "Human EAG channels are directly modulated by PIP2 as revealed by electrophysiological and optical interference investigations.", "journal": "Scientific reports", "date": "2016-03-23", "authors": "Han Bo, He Kunyan, Cai Chunlin, Tang Yin, Yang Linli, Heinemann Stefan H, Hoshi Toshinori, Hou Shangwei", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "27005320", "url": "https://glygen.org/publication/PubMed/27005320" } ] }, { "title": "Calmodulin Regulates Human Ether a Go-Go 1 (hEAG1) Potassium Channels through Interactions of the Eag Domain with the Cyclic Nucleotide Binding Homology Domain.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Lorinczi E, Helliwell M, Finch A, Stansfeld PJ, Davies NW, Mahaut-Smith M, Muskett FW, Mitcheson JS", "evidence": [ { "database": "UniProtKB", "id": "O95259", "url": "https://www.uniprot.org/uniprot/O95259" } ], "reference": [ { "type": "PubMed", "id": "27325704", "url": "https://glygen.org/publication/PubMed/27325704" } ] }, { "title": "Crystal structure of the PAS domain of the hEAG potassium channel.", "journal": "Acta Crystallogr. F Struct. Biol. 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15 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", 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