{
"uniprot_canonical_ac": "P13637-1",
"uniprot_ac": "P13637",
"uniprot_id": "AT1A3_HUMAN",
"mass": {
"chemical_mass": 111749.0,
"monoisotopic_mass": 111749.0
},
"refseq": {
"ac": "NP_001243142",
"name": "sodium/potassium-transporting ATPase subunit alpha-3 isoform 2",
"summary": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142"
},
"gene_names": [
{
"name": "ATP1A3",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P13637",
"id": "P13637"
},
{
"name": "AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142",
"id": "NP_001243142"
},
{
"name": "ATP1A3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142",
"id": "NP_001243142"
}
],
"protein_names": [
{
"name": "Sodium/potassium-transporting ATPase subunit alpha-3",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P13637"
},
{
"name": "7.2.2.13",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13637"
},
{
"name": "Na(+)/K(+) ATPase alpha(III) subunit",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13637"
},
{
"name": "Na(+)/K(+) ATPase alpha-3 subunit",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13637"
},
{
"name": "Sodium pump subunit alpha-3",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13637"
},
{
"name": "sodium-potassium-ATPase, alpha 3 polypeptide; Na+/K+ ATPase 3; sodium/potassium-transporting ATPase alpha-3 chain; sodium/potassium-transporting ATPase subunit alpha-3; sodium pump subunit alpha-3; Na(+)/K(+) ATPase alpha-3 subunit; Na(+)/K(+) ATPase alpha(III) subunit; sodium-potassium ATPase catalytic subunit alpha-3; ATPase, Na+/K+ transporting, alpha 3 polypeptide; Na+, K+ activated adenosine triphosphatase alpha subunit",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142",
"id": "NP_001243142"
},
{
"name": "sodium/potassium-transporting ATPase subunit alpha-3 isoform 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142",
"id": "NP_001243142"
}
],
"function": [
{
"annotation": "ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001243142",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142"
},
{
"database": "PubMed",
"id": "37713494",
"url": "https://glygen.org/publication/PubMed/37713494"
}
]
},
{
"annotation": "ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001243142",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142"
},
{
"database": "PubMed",
"id": "36484864",
"url": "https://glygen.org/publication/PubMed/36484864"
}
]
},
{
"annotation": "Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001243142",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142"
},
{
"database": "PubMed",
"id": "37482377",
"url": "https://glygen.org/publication/PubMed/37482377"
}
]
},
{
"annotation": "Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001243142",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142"
},
{
"database": "PubMed",
"id": "36538131",
"url": "https://glygen.org/publication/PubMed/36538131"
}
]
},
{
"annotation": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001243142",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142"
}
]
},
{
"annotation": "This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.",
"evidence": [
{
"database": "UniProtKB",
"id": "M0R116",
"url": "https://www.uniprot.org/uniprot/M0R116#function"
},
{
"database": "UniProtKB",
"id": "ARBA00037422",
"url": "https://www.uniprot.org/uniprot/ARBA00037422#function"
},
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637#function"
},
{
"database": "PubMed",
"id": "33880529",
"url": "https://glygen.org/publication/PubMed/33880529"
},
{
"database": "UniProtKB",
"id": "A0A0A0MT26",
"url": "https://www.uniprot.org/uniprot/A0A0A0MT26#function"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0050635",
"recommended_name": {
"id": "DOID:0050635",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050635",
"name": "alternating hemiplegia of childhood",
"description": "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body."
},
"synonyms": [
{
"id": "DOID:0050635",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050635",
"name": "AHC",
"description": ""
},
{
"id": "MONDO:0013900",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013900",
"name": "alternating hemiplegia of childhood 2",
"description": "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene."
},
{
"id": "MONDO:0013900",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013900",
"name": "ATP1A3 alternating hemiplegia of childhood",
"description": ""
},
{
"id": "MONDO:0013900",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013900",
"name": "alternating hemiplegia of childhood 2",
"description": ""
},
{
"id": "MONDO:0013900",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013900",
"name": "alternating hemiplegia of childhood caused by mutation in ATP1A3",
"description": ""
},
{
"id": "MONDO:0013900",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013900",
"name": "alternating hemiplegia of childhood type 2",
"description": ""
},
{
"id": "MONDO:0013900",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013900",
"name": "AHC2",
"description": ""
},
{
"id": "MONDO:0007087",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007087",
"name": "alternating hemiplegia of childhood 1",
"description": "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene."
},
{
"id": "MONDO:0007087",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007087",
"name": "ATP1A2 alternating hemiplegia of childhood",
"description": ""
},
{
"id": "MONDO:0007087",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007087",
"name": "alternating hemiplegia of childhood 1",
"description": ""
},
{
"id": "MONDO:0007087",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007087",
"name": "alternating hemiplegia of childhood caused by mutation in ATP1A2",
"description": ""
},
{
"id": "MONDO:0007087",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007087",
"name": "alternating hemiplegia of childhood type 1",
"description": ""
},
{
"id": "MONDO:0007087",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007087",
"name": "AHC1",
"description": ""
},
{
"id": "MIM:614820",
"resource": "MIM",
"url": "https://www.omim.org/entry/614820",
"name": "Alternating hemiplegia of childhood 2",
"description": "Alternating hemiplegia of childhood 2"
},
{
"id": "MIM:104290",
"resource": "MIM",
"url": "https://www.omim.org/entry/104290",
"name": "Alternating hemiplegia of childhood 1",
"description": "Alternating hemiplegia of childhood 1"
}
],
"evidence": [
{
"id": "614820",
"database": "MIM",
"url": "https://www.omim.org/entry/614820"
}
]
},
{
"disease_id": "DOID:0070385",
"recommended_name": {
"id": "DOID:0070385",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070385",
"name": "developmental and epileptic encephalopathy 99",
"description": "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13."
},
"synonyms": [
{
"id": "DOID:0070385",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070385",
"name": "DEE99",
"description": ""
},
{
"id": "DOID:0070385",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070385",
"name": "early infantile epileptic encephalopathy 99",
"description": ""
},
{
"id": "MONDO:0030473",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030473",
"name": "developmental and epileptic encephalopathy 99",
"description": ""
},
{
"id": "MONDO:0030473",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030473",
"name": "DEE99",
"description": ""
},
{
"id": "MIM:619606",
"resource": "MIM",
"url": "https://www.omim.org/entry/619606",
"name": "Developmental and epileptic encephalopathy 99",
"description": "Developmental and epileptic encephalopathy 99"
}
],
"evidence": [
{
"id": "619606",
"database": "MIM",
"url": "https://www.omim.org/entry/619606"
}
]
},
{
"disease_id": "DOID:0090056",
"recommended_name": {
"id": "DOID:0090056",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090056",
"name": "dystonia 12",
"description": "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13."
},
"synonyms": [
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "dystonia 12",
"description": "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "ATP1A3 dystonic disorder",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "DYT-ATP1A3",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "DYT12",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "dystonia 12",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "dystonia type 12",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "dystonia-12",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "dystonic disorder caused by mutation in ATP1A3",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "RDP",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "dystonia-Parkinsonism, rapid-onset",
"description": ""
},
{
"id": "MONDO:0007496",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007496",
"name": "rapid-onset dystonia-parkinsonism",
"description": ""
},
{
"id": "MIM:128235",
"resource": "MIM",
"url": "https://www.omim.org/entry/128235",
"name": "Dystonia 12",
"description": "Dystonia 12"
}
],
"evidence": [
{
"id": "128235",
"database": "MIM",
"url": "https://www.omim.org/entry/128235"
}
]
},
{
"disease_id": "MONDO:0011038",
"recommended_name": {
"id": "MONDO:0011038",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011038",
"name": "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",
"description": "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements."
},
"synonyms": [
{
"id": "MONDO:0011038",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011038",
"name": "CAPOS syndrome",
"description": ""
},
{
"id": "MONDO:0011038",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011038",
"name": "CAPOS",
"description": ""
},
{
"id": "MONDO:0011038",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011038",
"name": "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss",
"description": ""
},
{
"id": "MONDO:0011038",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011038",
"name": "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss",
"description": ""
},
{
"id": "MONDO:0011038",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011038",
"name": "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss",
"description": ""
},
{
"id": "MIM:601338",
"resource": "MIM",
"url": "https://www.omim.org/entry/601338",
"name": "Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss",
"description": "Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss"
}
],
"evidence": [
{
"id": "601338",
"database": "MIM",
"url": "https://www.omim.org/entry/601338"
}
]
}
],
"snv": [],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "54.24",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "41.27",
"present": "ABSENT",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "49.47",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "49.96",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "65.46",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "64.65",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "47.76",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "46.85",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "50.53",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "47.6",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "42.86",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "52.19",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "48.38",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000105409",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105409"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P13637",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13637"
}
],
"disease": [
{
"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"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P13637",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13637"
}
],
"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",
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]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
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{
"database": "BioXpress",
"id": "P13637",
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{
"id": "DOID:11054",
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{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "tumor of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
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},
{
"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",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant neoplasm, bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of the bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of the urinary bladder",
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},
{
"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",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant tumour of urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
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"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
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{
"database": "BioXpress",
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}
],
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{
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{
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
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}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
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{
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],
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{
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{
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012942",
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"url": "https://monarchinitiative.org/disease/MONDO:0012942",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
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"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, somatic",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "malignant lung tumor",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
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},
{
"id": "MONDO:0008903",
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"name": "malignant neoplasm of lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "malignant tumour of lung",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
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"name": "lung neoplasm",
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},
{
"id": "MIM:211980",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
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},
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},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P13637",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13637"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P13637",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13637"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P13637",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13637"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P13637",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13637"
}
],
"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": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P13637",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13637"
}
],
"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 third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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{
"id": "R-HSA-5578775",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-936837",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9679191",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_001243142",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "18353",
"url": "https://www.rhea-db.org/rhea/18353",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "A0A0A0MT26",
"url": "https://www.uniprot.org/uniprot/A0A0A0MT26",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A0A0MT26-1",
"url": "https://www.uniprot.org/uniprot/A0A0A0MT26-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "M0QXF2",
"url": "https://www.uniprot.org/uniprot/M0QXF2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "M0QXF2-1",
"url": "https://www.uniprot.org/uniprot/M0QXF2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "M0R116",
"url": "https://www.uniprot.org/uniprot/M0R116",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "M0R116-1",
"url": "https://www.uniprot.org/uniprot/M0R116-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13637-1",
"url": "https://www.uniprot.org/uniprot/P13637-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13637-2",
"url": "https://www.uniprot.org/uniprot/P13637-2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13637-3",
"url": "https://www.uniprot.org/uniprot/P13637-3",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY",
"length": 1013,
"header": "sp|P13637-1|AT1A3_HUMAN Isoform 1 of Sodium/potassium-transporting ATPase subunit alpha-3 OS=Homo sapiens OX=9606 GN=ATP1A3 PE=1 SV=3 CANONICAL=P13637-1"
},
"isoforms": [
{
"isoform_ac": "A0A0A0MT26-1",
"url": "",
"sequence": {
"sequence": "MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGEGARQGSRGGRGAAGSQAAGPRLPSPCWMALPPGSHSSLSSHLSGHPLCLLTGLCLCGFLVSLPLCPSLCWAARLACLSPSLTLSLSFLLCLSRLGGEGNLLLTSAPPHRPSLPRPPGPGPPLSVPPILYSGGRSPLFLWPHLGPHPLHYLLPPPLWLASLPCPKPLSSLFSVSVSLPLLTPLSIPPAPATSLGSFLLPFSPPADAISGSGQLSNISVGRE",
"length": 1226,
"header": "tr|A0A0A0MT26-1|A0A0A0MT26_HUMAN Computationally mapped isoform of Sodium/potassium-transporting ATPase subunit alpha-3 OS=Homo sapiens OX=9606 GN=ATP1A3 PE=1 SV=1 CANONICAL=P13637-1"
},
"locus": {
"chromosome": "19",
"start_pos": 41994076,
"end_pos": 41966584,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000441343.5",
"url": "https://www.ensembl.org/id/ENST00000441343.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000411503.1",
"url": "https://www.ensembl.org/id/ENSP00000411503.1"
}
]
}
},
{
"isoform_ac": "M0QXF2-1",
"url": "",
"sequence": {
"sequence": "MTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHF",
"length": 251,
"header": "tr|M0QXF2-1|M0QXF2_HUMAN Computationally mapped isoform of Sodium/potassium-transporting ATPase subunit alpha-3 OS=Homo sapiens OX=9606 GN=ATP1A3 PE=1 SV=2 CANONICAL=P13637-1"
},
"locus": {
"chromosome": "19",
"start_pos": 41988478,
"end_pos": 41985068,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000473086.3",
"url": "https://www.ensembl.org/id/ENST00000473086.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000469129.2",
"url": "https://www.ensembl.org/id/ENSP00000469129.2"
}
]
}
},
{
"isoform_ac": "M0R116-1",
"url": "",
"sequence": {
"sequence": "MTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY",
"length": 983,
"header": "tr|M0R116-1|AT1A3_HUMAN Computationally mapped isoform of Sodium/potassium-transporting ATPase subunit alpha-3 OS=Homo sapiens OX=9606 GN=ATP1A3 PE=1 SV=1 CANONICAL=P13637-1"
},
"locus": {
"chromosome": "19",
"start_pos": 41988478,
"end_pos": 41966940,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000602133.5",
"url": "https://www.ensembl.org/id/ENST00000602133.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000471581.1",
"url": "https://www.ensembl.org/id/ENSP00000471581.1"
}
]
}
},
{
"isoform_ac": "P13637-1",
"url": "",
"sequence": {
"sequence": "MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY",
"length": 1013,
"header": "sp|P13637-1|AT1A3_HUMAN Isoform 1 of Sodium/potassium-transporting ATPase subunit alpha-3 OS=Homo sapiens OX=9606 GN=ATP1A3 PE=1 SV=3 CANONICAL=P13637-1"
},
"locus": {
"chromosome": "19",
"start_pos": 41994076,
"end_pos": 41966940,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000648268.1",
"url": "https://www.ensembl.org/id/ENST00000648268.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000498113.1",
"url": "https://www.ensembl.org/id/ENSP00000498113.1"
}
]
}
},
{
"isoform_ac": "P13637-2",
"url": "",
"sequence": {
"sequence": "MGGWEEERNRRATDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY",
"length": 1024,
"header": "sp|P13637-2|AT1A3_HUMAN Isoform 2 of Sodium/potassium-transporting ATPase subunit alpha-3 OS=Homo sapiens OX=9606 GN=ATP1A3 PE=1 SV=3 CANONICAL=P13637-1"
},
"locus": {
"chromosome": "19",
"start_pos": 41993431,
"end_pos": 41966940,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000543770.5",
"url": "https://www.ensembl.org/id/ENST00000543770.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000437577.1",
"url": "https://www.ensembl.org/id/ENSP00000437577.1"
}
]
}
},
{
"isoform_ac": "P13637-3",
"url": "",
"sequence": {
"sequence": "MGSGGSDSYRIATSQDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY",
"length": 1026,
"header": "sp|P13637-3|AT1A3_HUMAN Isoform 3 of Sodium/potassium-transporting ATPase subunit alpha-3 OS=Homo sapiens OX=9606 GN=ATP1A3 PE=1 SV=3 CANONICAL=P13637-1"
},
"locus": {
"chromosome": "19",
"start_pos": 41994076,
"end_pos": 41966940,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000545399.6",
"url": "https://www.ensembl.org/id/ENST00000545399.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000444688.1",
"url": "https://www.ensembl.org/id/ENSP00000444688.1"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "",
"relation": "attached",
"comment": "O-GlcNAcylation",
"evidence": [
{
"id": "P13637",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13637"
},
{
"id": "34019948",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34019948"
},
{
"id": "30397120",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/30397120"
}
]
}
],
"phosphorylation": [
{
"start_pos": 218,
"end_pos": 218,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"site_lbl": "Ser218"
},
{
"start_pos": 265,
"end_pos": 265,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"site_lbl": "Ser265"
},
{
"start_pos": 37,
"end_pos": 37,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"site_lbl": "Ser37"
},
{
"start_pos": 442,
"end_pos": 442,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"site_lbl": "Ser442"
},
{
"start_pos": 548,
"end_pos": 548,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Tyr",
"comment": "Phosphotyrosine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"site_lbl": "Tyr548"
},
{
"start_pos": 56,
"end_pos": 56,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"site_lbl": "Ser56"
},
{
"start_pos": 705,
"end_pos": 705,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13637",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13637"
},
{
"database": "PubMed",
"id": "30623173",
"url": "https://glygen.org/publication/PubMed/30623173"
}
],
"site_lbl": "Thr705"
},
{
"start_pos": 933,
"end_pos": 933,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"site_lbl": "Ser933"
}
],
"glycation": [],
"keywords": [
"enzyme",
"glycoprotein",
"glycoprotein_reported_with_glycan"
],
"publication": [
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"title": "Molecular and ligand-binding characterization of the sigma-receptor in the Jurkat human T lymphocyte cell line.",
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"sequence": "MGDKKDDKSSPKKSKAKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCATILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY",
"length": 1013
},
"evidence": [
{
"id": "45917782",
"url": "http://www.informatics.jax.org/homology/45917782",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "Q6PIC6-1",
"protein_name": "Sodium/potassium-transporting ATPase subunit alpha-3",
"gene_name": "Atp1a3",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MGDKKDDKSSPKKSKAKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCATILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY",
"length": 1013
},
"evidence": [
{
"id": "45917782",
"url": "http://www.informatics.jax.org/homology/45917782",
"database": "MGI"
},
{
"id": "P13637",
"url": "https://omabrowser.org/oma/group/P13637/",
"database": "OMA"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 8,
"go_terms": [
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "metal ion binding",
"id": "GO:0046872",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "ATP hydrolysis activity",
"id": "GO:0016887",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "P-type potassium transmembrane transporter activity",
"id": "GO:0008556",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008556",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "protein-folding chaperone binding",
"id": "GO:0051087",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "amyloid-beta binding",
"id": "GO:0001540",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "P-type sodium:potassium-exchanging transporter activity",
"id": "GO:0005391",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005391",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "steroid hormone binding",
"id": "GO:1990239",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990239",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 14,
"go_terms": [
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "photoreceptor inner segment membrane",
"id": "GO:0060342",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060342",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "endoplasmic reticulum",
"id": "GO:0005783",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "Golgi apparatus",
"id": "GO:0005794",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "axon",
"id": "GO:0030424",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "neuronal cell body",
"id": "GO:0043025",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "synapse",
"id": "GO:0045202",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "photoreceptor inner segment",
"id": "GO:0001917",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "organelle membrane",
"id": "GO:0031090",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "neuronal cell body membrane",
"id": "GO:0032809",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "extracellular vesicle",
"id": "GO:1903561",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "sodium:potassium-exchanging ATPase complex",
"id": "GO:0005890",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005890",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "neuron to neuron synapse",
"id": "GO:0098984",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098984",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 12,
"go_terms": [
{
"name": "cellular response to amyloid-beta",
"id": "GO:1904646",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "neuron projection maintenance",
"id": "GO:1990535",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "intracellular sodium ion homeostasis",
"id": "GO:0006883",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "cellular response to steroid hormone stimulus",
"id": "GO:0071383",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071383",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "intracellular potassium ion homeostasis",
"id": "GO:0030007",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "sodium ion export across plasma membrane",
"id": "GO:0036376",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "regulation of resting membrane potential",
"id": "GO:0060075",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060075",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "cell communication by electrical coupling involved in cardiac conduction",
"id": "GO:0086064",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086064",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "response to glycoside",
"id": "GO:1903416",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903416",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "potassium ion import across plasma membrane",
"id": "GO:1990573",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "proton transmembrane transport",
"id": "GO:1902600",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
},
{
"name": "transmembrane transport",
"id": "GO:0055085",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085",
"evidence": [
{
"database": "UniProtKB",
"id": "P13637",
"url": "https://www.uniprot.org/uniprot/P13637"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 205,
"end_pos": 207,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 231,
"end_pos": 233,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 473,
"end_pos": 475,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 567,
"end_pos": 569,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 628,
"end_pos": 630,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 674,
"end_pos": 676,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 710,
"end_pos": 712,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "18353",
"name": "",
"equation": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06686-1",
"P06687-1",
"P06685-1",
"Q64541-1",
"P54708-1",
"P50993-1",
"P05023-1",
"P13637-1",
"Q13733-1",
"P54707-1",
"Q6PIE5-1",
"Q8VDN2-1",
"Q6PIC6-1",
"Q9WV27-1",
"Q9Z1W8-1",
"P13607-1"
],
"evidence": [
{
"id": "18353",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/18353"
}
]
},
{
"id": "R-HSA-936897",
"name": "ATP1A:ATP1B:FXYD exchanges 3Na+ for 2K+",
"equation": "",
"summary": "The sodium/potassium-transporting ATPase (ATP1A:ATP1B:FXYD) is composed of three subunits - alpha (catalytic part), beta and gamma. The trimer catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane, creating the electrochemical gradient which provides energy for the active transport of various nutrients.
Four human genes encode the catalytic alpha subunits, ATP1A1-4 (Kawakami et al, 1986; Shull et al, 1989; Ovchinnikov et al, 1988; Keryanov and Gardner, 2002). Defects in ATP1A2 cause alternating hemiplegia of childhood (AHC) (Swoboda et al, 2004). Another defect in ATP1A2 causes familial hemiplegic migraine type 2 (FHM2) (Vanmolkot et al, 2003). Defects in ATP1A3 are the cause of dystonia type 12 (DYT12) (de Carvalho Aguiar et al, 2004).
Three human genes encode the non-catalytic beta subunits, ATP1B1-3. The beta subunits are thought to mediate the number of sodium pumps transported to the plasma membrane (Lane et al, 1989; Ruiz et al, 1996; Malik et al, 1996). FXYD proteins belong to a family of small membrane proteins that are auxiliary gamma subunits of Na-K-ATPase. At least six members of this family, FYD1-4, 6 and 7, have been shown to regulate Na-K-ATPase activity (Geering 2006, Choudhury et al. 2007). Defects in FXYD2 are the cause of hypomagnesemia type 2 (HOMG2) (Meij et al, 2000). ATP1A1-4 and ATP1B1-4 play a minor role during phase 2, since they begin to restore ion concentrations. The high concentration of intracellular calcium starts contraction of those cells, which is sustained in the plateau phase.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13637-1",
"P50993-1",
"Q13733-1",
"P05023-1"
],
"evidence": [
{
"id": "R-HSA-936897",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936897"
}
]
},
{
"id": "R-HSA-9684068",
"name": "ATP1A:ATP1B:FXYD binds cardiac glycosides",
"equation": "",
"summary": "Cardiac glycosides are a class of organic compounds that increase the output force of the heart and increase its rate of contractions by inhibition of the cellular sodium-potassium ATPase pump (ATP1A1). Their beneficial medical uses are as treatments for congestive heart failure and cardiac arrhythmias. Cardiac glycosides are primarily derived from foxglove plants or from the venom of the cane toad Bufo marinus. Their toxicity prevents them from being widely used. Changes to heart inotropic and chronotropic activity results in multiple kinds of dysrhythmia and potentially fatal ventricular tachycardia. Different cardiac glycosides show different specificities towards sodium-potassium ATPase pump alpha isoforms (Hauck et al. 2009, Katz et al. 2010, Cherniavsky et al. 2015).
HIV-1 Tat is essential for HIV-1 replication. Tat must escape from the cell in order for it to activate the HIV-1 LTR promoter and facilitate HIV-1 viral replication. Tat utilises the cellular ATP1A1 pump for secretion out of cells. The cardiac glycosides ouabain, digoxin, digitoxin, acetyldigitoxin and deslanoside can all inhibit ATP1A1 (Smith 1984), impairing extracellular Tat release and blocking HIV-1 replication (Agostini et al. 2017).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13637-1",
"P50993-1",
"Q13733-1",
"P05023-1"
],
"evidence": [
{
"id": "R-HSA-9684068",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9684068"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "P05023",
"gene_name": "ATP1A1",
"activity": [
{
"ec_number": "7.2.2.13",
"activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.",
"evidence": [
{
"id": "P05023",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05023"
}
]
},
{
"ec_number": "7.2.2.13",
"activity": "",
"evidence": [
{
"id": "P05023",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05023"
}
]
}
]
},
{
"uniprot_ac": "P06685",
"gene_name": "Atp1a1",
"activity": [
{
"ec_number": "7.2.2.13",
"activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.",
"evidence": [
{
"id": "P06685",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06685"
}
]
},
{
"ec_number": "7.2.2.13",
"activity": "",
"evidence": [
{
"id": "P06685",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06685"
}
]
}
]
},
{
"uniprot_ac": "P06686",
"gene_name": "Atp1a2",
"activity": [
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