{ "uniprot_canonical_ac": "O00165-1", "uniprot_ac": "O00165", "uniprot_id": "HAX1_HUMAN", "mass": { "chemical_mass": 31621.0, "monoisotopic_mass": 31621.0 }, "refseq": { "ac": "NP_001018238", "name": "HCLS1-associated protein X-1 isoform b", "summary": "The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, "gene_names": [ { "name": "HAX1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00165", "id": "O00165" }, { "name": "HAX1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238", "id": "NP_001018238" }, { "name": "HCLSBP1; HS1BP1; SCN3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238", "id": "NP_001018238" }, { "name": "HS1BP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00165", "id": "O00165" } ], "protein_names": [ { "name": "HCLS1-associated protein X-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00165" }, { "name": "HAX-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00165" }, { "name": "HCLS1-associated protein X-1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238", "id": "NP_001018238" }, { "name": "HS1 binding protein; HCLS1 (and PKD2) associated protein; HAX-1; HSP1BP-1; HS1-binding protein 1; HS1-associating protein X-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238", "id": "NP_001018238" }, { "name": "HS1-associating protein X-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00165" }, { "name": "HS1-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00165" }, { "name": "HSP1BP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00165" } ], "function": [ { "annotation": "Extracellular vesicles rich in HAX1 promote angiogenesis by modulating ITGB6 translation. Erratum:[J Extracell Vesicles. 2022 May;11(6):e12236. PMID: 35676233]", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, { "database": "PubMed", "id": "35524442", "url": "https://glygen.org/publication/PubMed/35524442" } ] }, { "annotation": "HAX-1 binds bile salt export protein (BSEP), cortactin, MDR1, and MDR2. HAX-1 and cortactin regulate BSEP abundance in the apical membrane of cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, { "database": "PubMed", "id": "15159385", "url": "https://glygen.org/publication/PubMed/15159385" } ] }, { "annotation": "HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response.", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, { "database": "PubMed", "id": "37742722", "url": "https://glygen.org/publication/PubMed/37742722" } ] }, { "annotation": "HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, { "database": "PubMed", "id": "35499078", "url": "https://glygen.org/publication/PubMed/35499078" } ] }, { "annotation": "HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, { "database": "PubMed", "id": "37193639", "url": "https://glygen.org/publication/PubMed/37193639" } ] }, { "annotation": "In psoriasis, the epidermal differentiation could be disturbed due to the increased expression of HAX-1 and hence a prolonged resistance to terminal differentiation", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, { "database": "PubMed", "id": "12787133", "url": "https://glygen.org/publication/PubMed/12787133" } ] }, { "annotation": "NOD1 cooperates with HAX-1 to promote cell migration in a RIPK2- and NF-kB-independent manner.", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" }, { "database": "PubMed", "id": "37488967", "url": "https://glygen.org/publication/PubMed/37488967" } ] }, { "annotation": "Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex. Slows down the rate of inactivation of KCNC3 channels. Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.", "evidence": [ { "database": "UniProtKB", "id": "A0A8V8TLX9", "url": "https://www.uniprot.org/uniprot/A0A8V8TLX9#function" }, { "database": "UniProtKB", "id": "PIRNR037634", "url": "https://www.uniprot.org/uniprot/PIRNR037634#function" }, { "database": "UniProtKB", "id": "Q5VYD6", "url": "https://www.uniprot.org/uniprot/Q5VYD6#function" }, { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165#function" }, { "database": "PubMed", "id": "26997484", "url": "https://glygen.org/publication/PubMed/26997484" }, { "database": "PubMed", "id": "18319618", "url": "https://glygen.org/publication/PubMed/18319618" }, { "database": "PubMed", "id": "9058808", "url": "https://glygen.org/publication/PubMed/9058808" }, { "database": "PubMed", "id": "16857965", "url": "https://glygen.org/publication/PubMed/16857965" }, { "database": "PubMed", "id": "17545607", "url": "https://glygen.org/publication/PubMed/17545607" }, { "database": "PubMed", "id": "15339924", "url": "https://glygen.org/publication/PubMed/15339924" }, { "database": "PubMed", "id": "18971376", "url": "https://glygen.org/publication/PubMed/18971376" } ] }, { "annotation": "The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ] } ], "disease": [ { "disease_id": "DOID:0112133", "recommended_name": { "id": "DOID:0112133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112133", "name": "severe congenital neutropenia 3", "description": "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3." }, "synonyms": [ { "id": "DOID:0112133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112133", "name": "Kostmann syndrome", "description": "" }, { "id": "DOID:0112133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112133", "name": "Kostmann disease", "description": "" }, { "id": "DOID:0112133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112133", "name": "SCN3", "description": "" }, { "id": "DOID:0112133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112133", "name": "infantile agranulocytosis", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "Kostmann syndrome", "description": "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "infantile agranulocytosis", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "neutropenia, severe congenital 3, autosomal recessive", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "severe congenital neutropenia type 3", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "Kostmann disease", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "SCN3", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "agranulocytosis infantile", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "agranulocytosis, infantile", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "neutropenia, severe congenital, 3, autosomal recessive", "description": "" }, { "id": "MONDO:0012548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012548", "name": "severe congenital neutropenia autosomal recessive 3", "description": "" }, { "id": "MIM:610738", "resource": "MIM", "url": "https://www.omim.org/entry/610738", "name": "Neutropenia, severe congenital 3, autosomal recessive", "description": "Neutropenia, severe congenital 3, autosomal recessive" } ], "evidence": [ { "id": "610738", "database": "MIM", "url": "https://www.omim.org/entry/610738" } ] } ], "snv": [ { "evidence": [ { "id": "rs146621451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146621451" }, { "id": "rs146621451", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146621451#frequency_tab" }, { "id": "rs146621451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146621451" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 135, "end_pos": 135, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "154273860", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00165", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00165" } ], "glycoeffect": [], "start_pos": 22, "end_pos": 22, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "154273346", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P22", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "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", "name": "LNCR3", "description": "" }, { "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", "name": "adenocarcinoma of lung, susceptibility to", "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", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "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", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "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", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": 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"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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "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", "name": "LNCR3", "description": "" }, { "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", "name": "adenocarcinoma of lung, susceptibility to", "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", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "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", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00165" } ], "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": 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"https://www.uniprot.org/uniprot/A0A8V8TKH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKH7-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKI6", "url": "https://www.uniprot.org/uniprot/A0A8V8TKI6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKI6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKI6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKI8", "url": "https://www.uniprot.org/uniprot/A0A8V8TKI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKI8-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TLX9", "url": "https://www.uniprot.org/uniprot/A0A8V8TLX9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TLX9-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TLX9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TLZ3", "url": "https://www.uniprot.org/uniprot/A0A8V8TLZ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TLZ3-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TLZ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PIQ7", "url": "https://www.uniprot.org/uniprot/E9PIQ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PIQ7-1", "url": "https://www.uniprot.org/uniprot/E9PIQ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00165-1", "url": "https://www.uniprot.org/uniprot/O00165-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00165-2", "url": "https://www.uniprot.org/uniprot/O00165-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00165-3", "url": "https://www.uniprot.org/uniprot/O00165-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00165-4", "url": "https://www.uniprot.org/uniprot/O00165-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00165-5", "url": "https://www.uniprot.org/uniprot/O00165-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00165-6", "url": "https://www.uniprot.org/uniprot/O00165-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VYD6", "url": "https://www.uniprot.org/uniprot/Q5VYD6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VYD6-1", "url": "https://www.uniprot.org/uniprot/Q5VYD6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 279, "header": "sp|O00165-1|HAX1_HUMAN Isoform 1 of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TKG3-1", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPV", "length": 106, "header": "tr|A0A8V8TKG3-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154274951, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696929.1", "url": "https://www.ensembl.org/id/ENST00000696929.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512978.1", "url": "https://www.ensembl.org/id/ENSP00000512978.1" } ] } }, { "isoform_ac": "A0A8V8TKG6-1", "url": "", "sequence": { "sequence": "MTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTE", "length": 211, "header": "tr|A0A8V8TKG6-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275440, "end_pos": 154273361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696944.1", "url": "https://www.ensembl.org/id/ENST00000696944.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512989.1", "url": "https://www.ensembl.org/id/ENSP00000512989.1" } ] } }, { "isoform_ac": "A0A8V8TKH7-1", "url": "", "sequence": { "sequence": "MTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLNFQVLSQRHLVRDYGR", "length": 74, "header": "tr|A0A8V8TKH7-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154273821, "end_pos": 154273361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696966.1", "url": "https://www.ensembl.org/id/ENST00000696966.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513005.1", "url": "https://www.ensembl.org/id/ENSP00000513005.1" } ] } }, { "isoform_ac": "A0A8V8TKI6-1", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRIGRSLFTYYGFFCSLMMYGLWTPILEPERTMILIPRFPRRVLARFYSPSPNPISRASL", "length": 226, "header": "tr|A0A8V8TKI6-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275234, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696933.1", "url": "https://www.ensembl.org/id/ENST00000696933.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512980.1", "url": "https://www.ensembl.org/id/ENSP00000512980.1" } ] } }, { "isoform_ac": "A0A8V8TKI8-1", "url": "", "sequence": { "sequence": "MTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLE", "length": 120, "header": "tr|A0A8V8TKI8-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154273895, "end_pos": 154273361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696945.1", "url": "https://www.ensembl.org/id/ENST00000696945.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512990.1", "url": "https://www.ensembl.org/id/ENSP00000512990.1" } ] } }, { "isoform_ac": "A0A8V8TLX9-1", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 276, "header": "tr|A0A8V8TLX9-1|A0A8V8TLX9_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275698, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696938.1", "url": "https://www.ensembl.org/id/ENST00000696938.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512983.1", "url": "https://www.ensembl.org/id/ENSP00000512983.1" } ] } }, { "isoform_ac": "A0A8V8TLZ3-1", "url": "", "sequence": { "sequence": "MTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLR", "length": 100, "header": "tr|A0A8V8TLZ3-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154273835, "end_pos": 154273361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696965.1", "url": "https://www.ensembl.org/id/ENST00000696965.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513004.1", "url": "https://www.ensembl.org/id/ENSP00000513004.1" } ] } }, { "isoform_ac": "E9PIQ7-1", "url": "", "sequence": { "sequence": "MLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 151, "header": "tr|E9PIQ7-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=1 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275698, "end_pos": 154273842, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532105.1", "url": "https://www.ensembl.org/id/ENST00000532105.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433951.1", "url": "https://www.ensembl.org/id/ENSP00000433951.1" } ] } }, { "isoform_ac": "O00165-1", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 279, "header": "sp|O00165-1|HAX1_HUMAN Isoform 1 of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275698, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696932.1", "url": "https://www.ensembl.org/id/ENST00000696932.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512979.1", "url": "https://www.ensembl.org/id/ENSP00000512979.1" } ] } }, { "isoform_ac": "O00165-2", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPANTCHLSAELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 287, "header": "sp|O00165-2|HAX1_HUMAN Isoform 2 of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275698, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483970.7", "url": "https://www.ensembl.org/id/ENST00000483970.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000435088.1", "url": "https://www.ensembl.org/id/ENSP00000435088.1" } ] } }, { "isoform_ac": "O00165-3", "url": "", "sequence": { "sequence": "MTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 253, "header": "sp|O00165-3|HAX1_HUMAN Isoform 3 of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275698, "end_pos": 154273361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697592.1", "url": "https://www.ensembl.org/id/ENST00000697592.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513356.1", "url": "https://www.ensembl.org/id/ENSP00000513356.1" } ] } }, { "isoform_ac": "O00165-4", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPGVWLSLRGNLWFLVGWWVK", "length": 124, "header": "sp|O00165-4|HAX1_HUMAN Isoform 4 of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "locus": {} }, { "isoform_ac": "O00165-5", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 231, "header": "sp|O00165-5|HAX1_HUMAN Isoform 5 of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275698, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457918.6", "url": "https://www.ensembl.org/id/ENST00000457918.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000411448.2", "url": "https://www.ensembl.org/id/ENSP00000411448.2" } ] } }, { "isoform_ac": "O00165-6", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLNFQVLSQRHLVRDYGRDRHFGTQCLSIQIVTSPGSLGGSWRVMQEVNPPNQHQTGAPRGHFIGLMMYGLWTPILEPERTMILIPRFPRRVLARFYSPSPNPISRASL", "length": 191, "header": "sp|O00165-6|HAX1_HUMAN Isoform 6 of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275234, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447768.7", "url": "https://www.ensembl.org/id/ENST00000447768.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000403848.2", "url": "https://www.ensembl.org/id/ENSP00000403848.2" } ] } }, { "isoform_ac": "Q5VYD6-1", "url": "", "sequence": { "sequence": "MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLNFQVLSQRHLVRDYGRDRHFGTQCLSIQIVTSPGSLGGSWRVMQEVNPPNQHQTGAPRGHFIGLMMYGLWTPILEPERTMFLPVHLSPFFLWTLSLLLLHLSALPDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR", "length": 283, "header": "tr|Q5VYD6-1|HAX1_HUMAN Computationally mapped isoform of HCLS1-associated protein X-1 OS=Homo sapiens OX=9606 GN=HAX1 PE=1 SV=2 CANONICAL=O00165-1" }, "locus": { "chromosome": "1", "start_pos": 154275698, "end_pos": 154272724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435087.2", "url": "https://www.ensembl.org/id/ENST00000435087.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000394920.2", "url": "https://www.ensembl.org/id/ENSP00000394920.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 135, "start_aa": "Ser", "end_pos": 135, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser135", "evidence": [ { "id": "O00165", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00165" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 189, "end_pos": 189, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00165" } ], "site_lbl": "Ser189" }, { "start_pos": 192, "end_pos": 192, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00165" } ], "site_lbl": "Ser192" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "10760273", "url": "https://glygen.org/publication/PubMed/10760273" } ] }, { "title": "HAX-1, identified by differential display reverse transcription polymerase chain reaction, is overexpressed in lesional psoriasis.", "journal": "The Journal of investigative dermatology", "date": "2003", "authors": "Mirmohammadsadegh A, Tartler U, Michel G, Baer A, Walz M, Wolf R, Ruzicka T, Hengge UR", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ], "reference": [ { "type": "PubMed", "id": "12787133", "url": "https://glygen.org/publication/PubMed/12787133" } ] }, { "title": "Identification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of Madin-Darby canine kidney cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ortiz DF, Moseley J, Calderon G, Swift AL, Li S, Arias IM", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ], "reference": [ { "type": "PubMed", "id": "15159385", "url": "https://glygen.org/publication/PubMed/15159385" } ] }, { "title": "Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Radhika V, Onesime D, Ha JH, Dhanasekaran N", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "15339924", "url": "https://glygen.org/publication/PubMed/15339924" } ] }, { "title": "Overexpression of HAX-1 protects cardiac myocytes from apoptosis through caspase-9 inhibition.", "journal": "Circulation research", "date": "2006-08-18", "authors": "Han Yuchi, Chen Yee-Shiuan, Liu Zhilin, Bodyak Natalya, Rigor Debra, Bisping Egbert, Pu William T, Kang Peter M", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "16857965", "url": "https://glygen.org/publication/PubMed/16857965" } ] }, { "title": "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).", "journal": "Nat. Genet.", "date": "2007", "authors": "Klein Christoph, Grudzien Magda, Appaswamy Giridharan, Germeshausen Manuela, Sandrock Inga, Sch\u00e4ffer Alejandro A, Rathinam Chozhavendan, Boztug Kaan, Schwinzer Beate, Rezaei Nima, Bohn Georg, Melin Malin, Carlsson G\u00f6ran, Fadeel Bengt, Dahl Niklas, Palmblad Jan, Henter Jan-Inge, Zeidler Cornelia, Grimbacher Bodo, Welte Karl", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "17187068", "url": "https://glygen.org/publication/PubMed/17187068" } ] }, { "title": "Phospholamban interacts with HAX-1, a mitochondrial protein with anti-apoptotic function.", "journal": "J. Mol. Biol.", "date": "2007", "authors": "Vafiadaki Elizabeth, Sanoudou Despina, Arvanitis Demetrios A, Catino Dawn H, Kranias Evangelia G, Kontrogianni-Konstantopoulos Aikaterini", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "17241641", "url": "https://glygen.org/publication/PubMed/17241641" } ] }, { "title": "HS1-associated protein X-1 regulates carcinoma cell migration and invasion via clathrin-mediated endocytosis of integrin alphavbeta6.", "journal": "Cancer research", "date": "2007-06-01", "authors": "Ramsay Alan G, Keppler Melanie D, Jazayeri Mona, Thomas Gareth J, Parsons Maddy, Violette Shelia, Weinreb Paul, Hart Ian R, Marshall John F", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "17545607", "url": "https://glygen.org/publication/PubMed/17545607" } ] }, { "title": "HS 1-associated protein X-1 is cleaved by caspase-3 during apoptosis.", "journal": "Molecules and cells", "date": "2008", "authors": "Lee AY, Lee Y, Park YK, Bae KH, Cho S, Lee DH, Park BC, Kang S, Park SG", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "18319618", "url": "https://glygen.org/publication/PubMed/18319618" } ] }, { "title": "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.", "journal": "Blood", "date": "2008", "authors": "Germeshausen Manuela, Grudzien Magda, Zeidler Cornelia, Abdollahpour Hengameh, Yetgin Sevgi, Rezaei Nima, Ballmaier Matthias, Grimbacher Bodo, Welte Karl, Klein Christoph", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "18337561", "url": "https://glygen.org/publication/PubMed/18337561" } ] }, { "title": "Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues.", "journal": "J. Mol. Biol.", "date": "2008", "authors": "Lees Delphine M, Hart Ian R, Marshall John F", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "18472110", "url": "https://glygen.org/publication/PubMed/18472110" } ] }, { "title": "The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival.", "journal": "Molecular biology of the cell", "date": "2009-01", "authors": "Vafiadaki Elizabeth, Arvanitis Demetrios A, Pagakis Stamatis N, Papalouka Vasiliki, Sanoudou Despina, Kontrogianni-Konstantopoulos Aikaterini, Kranias Evangelia G", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "18971376", "url": "https://glygen.org/publication/PubMed/18971376" } ] }, { "title": "A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).", "journal": "Clinical genetics", "date": "2009", "authors": "Faiyaz-Ul-Haque M, Al-Jefri A, Abalkhail HA, Toulimat M, Al-Muallimi MA, Pulicat MS, Gaafar A, Alaiya AA, Al-Dayel F, Peltekova I, Zaidi SH", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "19796188", "url": "https://glygen.org/publication/PubMed/19796188" } ] }, { "title": "Molecular interaction between HAX-1 and XIAP inhibits apoptosis.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2010", "authors": "Kang Young Ji, Jang Mi, Park Yun Kyung, Kang Sunghyun, Bae Kwang-Hee, Cho Sayeon, Lee Chong-Kil, Park Byoung Chul, Chi Seung-Wook, Park Sung Goo", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "20171186", "url": "https://glygen.org/publication/PubMed/20171186" } ] }, { "title": "Digenic mutations in severe congenital neutropenia.", "journal": "Haematologica", "date": "2010", "authors": "Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "20220065", "url": "https://glygen.org/publication/PubMed/20220065" } ] }, { "title": "Grb7 binds to Hax-1 and undergoes an intramolecular domain association that offers a model for Grb7 regulation.", "journal": "J. Mol. Recognit.", "date": "2011", "authors": "Siamakpour-Reihani S, Peterson TA, Bradford AM, Argiros HJ, Haas LL, Lor SN, Haulsee ZM, Spuches AM, Johnson DL, Rohrschneider LR, Shuster CB, Lyons BA", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "20665473", "url": "https://glygen.org/publication/PubMed/20665473" } ] }, { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00165", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00165" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "HAX-1 is a nucleocytoplasmic shuttling protein with a possible role in mRNA processing.", "journal": "FEBS J.", "date": "2013", "authors": "Grzybowska Ewa A, Zayat Valery, Konopi\u0144ski Ryszard, Tr\u0119bi\u0144ska Alicja, Szwarc Maria, Sarnowska El\u017cbieta, Macech Ewelina, Korczy\u0144ski Jaros\u0142aw, Knapp Anna, Siedlecki Janusz A", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "23164465", "url": "https://glygen.org/publication/PubMed/23164465" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" }, { "database": "iPTMnet", "id": "O00165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00165" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Hax-1 identified as a two-pore channel (TPC)-binding protein.", "journal": "FEBS Lett.", "date": "2013", "authors": "Lam Andy K M, Galione Antony, Lai F Anthony, Zissimopoulos Spyros", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "24188827", "url": "https://glygen.org/publication/PubMed/24188827" } ] }, { "title": "Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL.", "journal": "Sci. Rep.", "date": "2014", "authors": "Fontanari Krause LM, Japp AS, Krause A, Mooster J, Chopra M, Muschen M, Bohlander SK", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "25298122", "url": "https://glygen.org/publication/PubMed/25298122" } ] }, { "title": "UCP3 is associated with Hax-1 in mitochondria in the presence of calcium ion.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2016", "authors": "Hirasaka Katsuya, Mills Edward M, Haruna Marie, Bando Aki, Ikeda Chika, Abe Tomoki, Kohno Shohei, Nowinski Sara M, Lago Cory U, Akagi Ken-Ichi, Tochio Hidehito, Ohno Ayako, Teshima-Kondo Shigetada, Okumura Yuushi, Nikawa Takeshi", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "26915802", "url": "https://glygen.org/publication/PubMed/26915802" } ] }, { "title": "Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.", "journal": "Cell", "date": "2016", "authors": "Zhang Y, Zhang XF, Fleming MR, Amiri A, El-Hassar L, Surguchev AA, Hyland C, Jenkins DP, Desai R, Brown MR, Gazula VR, Waters MF, Large CH, Horvath TL, Navaratnam D, Vaccarino FM, Forscher P, Kaczmarek LK", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "26997484", "url": "https://glygen.org/publication/PubMed/26997484" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00165", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00165" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.", "journal": "The Journal of clinical investigation", "date": "2022", "authors": "Fan Y, Murgia M, Linder MI, Mizoguchi Y, Wang C, Lyszkiewicz M, Zietara N, Liu Y, Frenz S, Sciuccati G, Partida-Gaytan A, Alizadeh Z, Rezaei N, Rehling P, Dennerlein S, Mann M, Klein C", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ], "reference": [ { "type": "PubMed", "id": "35499078", "url": "https://glygen.org/publication/PubMed/35499078" } ] }, { "title": "Extracellular vesicles rich in HAX1 promote angiogenesis by modulating ITGB6 translation.", "journal": "Journal of extracellular vesicles", "date": "2022", "authors": "You B, Pan S, Gu M, Zhang K, Xia T, Zhang S, Chen W, Xie H, Fan Y, Yao H, Cheng T, Zhang P, Liu D, You Y", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ], "reference": [ { "type": "PubMed", "id": "35524442", "url": "https://glygen.org/publication/PubMed/35524442" } ] }, { "title": "HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).", "journal": "British journal of haematology", "date": "2023-07", "authors": "Pogozhykh Denys, Yilmaz Karapinar Deniz, Klimiankou Maksim, Gerschmann Natali, Ebetsberger-Dachs Georg, Palmblad Jan, Carlsson G\u00f6ran, Masmas Tania, Kinsey Sally, Bartels Marije, Mellor-Heineke Sabine, Welte Karl, Skokowa Julia, Zeidler Cornelia", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ], "reference": [ { "type": "PubMed", "id": "37193639", "url": "https://glygen.org/publication/PubMed/37193639" } ] }, { "title": "NOD1 cooperates with HAX-1 to promote cell migration in a RIPK2- and NF-\u0138B-independent manner.", "journal": "The FEBS journal", "date": "2023-07-24", "authors": "Hezinger Lucy, Bauer Sarah, Ellwanger Kornelia, Piotrowsky Alban, Biber Felix, Venturelli Sascha, Kufer Thomas A", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ], "reference": [ { "type": "PubMed", "id": "37488967", "url": "https://glygen.org/publication/PubMed/37488967" } ] }, { "title": "HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response.", "journal": "Biochimica et biophysica acta. Molecular cell research", "date": "2024-01", "authors": "Pisani Cinzia, Onori Annalisa, Gabanella Francesca, Iezzi Simona, De Angelis Roberta, Fanciulli Maurizio, Colizza Andrea, de Vincentiis Marco, Di Certo Maria Grazia, Passananti Claudio, Corbi Nicoletta", "evidence": [ { "database": "RefSeq", "id": "NP_001018238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018238" } ], "reference": [ { "type": "PubMed", "id": "37742722", "url": "https://glygen.org/publication/PubMed/37742722" } ] }, { "title": "HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1997", "authors": "Suzuki Y, Demoliere C, Kitamura D, Takeshita H, Deuschle U, Watanabe T", "evidence": [ { "database": "UniProtKB", "id": "O00165", "url": "https://www.uniprot.org/uniprot/O00165" } ], "reference": [ { "type": "PubMed", "id": "9058808", "url": "https://glygen.org/publication/PubMed/9058808" } ] } ], "pathway": [ { "id": "hsa:10456", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10456", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O35387-1", "protein_name": "HCLS1-associated protein X-1", "gene_name": "Hax1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSVFDLFRGFFGFPGPRSHRDPFFGGMTRDDDDDDDDDDEAEEDRGAWGRESYAFDGSQPPEEFGFSFSPRGGMRFHGNFGFDDLVRDFNSIFSEMGAWTLPSHSPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFEGVLESHAKPESPKPAPDWGSQGPFHRLDDTWPVSPHSRAKEDKDLDSQVSQEGLGPLLQPQPKSYFKSISVTKITKPDGTVEERRTVVDSEGRRETTVTHQEAHDSSRSDPDSQRSSALDDPFSILDLLLGRWFRSR", "length": 280 }, "evidence": [ { "id": "45925384", "url": "http://www.informatics.jax.org/homology/45925384", "database": "MGI" }, { "id": "O00165", "url": "https://omabrowser.org/oma/group/O00165/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q7TSE9-1", "protein_name": 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