{ "uniprot_canonical_ac": "A4D1B5-1", "uniprot_ac": "A4D1B5", "uniprot_id": "GSAP_HUMAN", "mass": { "chemical_mass": 97802.0, "monoisotopic_mass": 97802.0 }, "refseq": { "ac": "NP_059135", "name": "gamma-secretase-activating protein isoform a", "summary": "Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, "gene_names": [ { "name": "GSAP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A4D1B5", "id": "A4D1B5" }, { "name": "GSAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135", "id": "NP_059135" }, { "name": "PION", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135", "id": "NP_059135" }, { "name": "PION", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D1B5", "id": "A4D1B5" } ], "protein_names": [ { "name": "Gamma-secretase-activating protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A4D1B5" }, { "name": "GSAP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A4D1B5" }, { "name": "Protein pigeon homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A4D1B5" }, { "name": "gamma-secretase-activating protein isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135", "id": "NP_059135" }, { "name": "protein pigeon homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135", "id": "NP_059135" } ], "function": [ { "annotation": "A gamma-secretase activating protein (GSAP) that selectively increases amyloid-beta production via interactions with both gamma-secretase and its substrate, the amyloid precursor protein carboxy-terminal fragment.", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "20811458", "url": "https://glygen.org/publication/PubMed/20811458" } ] }, { "annotation": "Aberrant regulation of gamma-secretase activating protein expression plays a key role in acceleration of gamma-cleavage of beta-secretase-cleaved C-terminal fragment of amyloid precursor protein and accumulation of Abeta in AD brains", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "21718343", "url": "https://glygen.org/publication/PubMed/21718343" } ] }, { "annotation": "Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ] }, { "annotation": "GSAP cleavage via caspase-3 is regulated and depend upon the availability of 5-Lipoxygenase in Alzheimer's disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "26076991", "url": "https://glygen.org/publication/PubMed/26076991" } ] }, { "annotation": "GSAP regulates lipid homeostasis and mitochondrial function associated with Alzheimer's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "34156424", "url": "https://glygen.org/publication/PubMed/34156424" } ] }, { "annotation": "Gamma-secretase activating protein (GSAP) and imatinib have roles in the regulation of gamma-secretase activity and amyloid-beta generation", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "23209290", "url": "https://glygen.org/publication/PubMed/23209290" } ] }, { "annotation": "Its promoter variant contributes to Alzheimer's disease liability.", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "25037285", "url": "https://glygen.org/publication/PubMed/25037285" } ] }, { "annotation": "Protocols for recombinant bacterial expression and purification of potentially important protein GSAP are not successful in generating soluble forms of GSAP that contain well-ordered and homogeneous tertiary structure.", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "22681044", "url": "https://glygen.org/publication/PubMed/22681044" } ] }, { "annotation": "Regulator of gamma-secretase activity, which specifically activates the production of amyloid-beta protein (amyloid-beta protein 40 and amyloid-beta protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate amyloid-beta, while it reduces the epsilon-cleavage of APP CTF-alpha, leading to a low production of AICD.", "evidence": [ { "database": "UniProtKB", "id": "A4D1B5", "url": "https://www.uniprot.org/uniprot/A4D1B5#function" }, { "database": "PubMed", "id": "20811458", "url": "https://glygen.org/publication/PubMed/20811458" } ] }, { "annotation": "These data demonstrate that GSAP proteins are differentially dysregulated in severe Alzheimer Disease, but only the full-length form was associated with cognitive test scores in Alzheimer Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" }, { "database": "PubMed", "id": "28743126", "url": "https://glygen.org/publication/PubMed/28743126" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "55.01", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186088", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186088" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A4D1B5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1B5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A4D1B5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1B5" } ], "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", 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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": 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"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 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1B5" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"MALRLVADFDLGKDVLPWLRAQRAVSEASGAGSGGADVLENDYESLHVLNVERNGNIIYTYKDDKGNVVFGLYDCQTRQNELLYTFEKDLQVFSCSVNSERTLLAASLVQSTKEGKRNELQPGSKCLTLLVEIHPVNNVKVLKAVDSYIWVQFLYPHIESHPLPENHLLLISEEKYIEQFRIHVAQEDGNRVVIKNSGHLPRDRIAEDFVWAQWDMSEQRLYYIDLKKSRSILKCIQFYADESYNLMFEVPLDISLSNSGFKLVNFGCDYHQYRDKFSKHLTLCVFTNHTGSLCVCYSPKCASWGQITYSVFYIHKGHSKTFTTSLENVGSHMTKGITFLNLDYYVAVYLPGHFFHLLNVQHPDLICHNLFLTGNNEMIDMLPHCPLQSLSGSLVLDCCSGKLYRALLSQSSLLQLLQNTCLDCEKMAALHCALYCGQGAQFLEAQIIQWISENVSACHSFDLIQEFIIASSYWSVYSETSNMDKLLPHSSVLTWNTEIPGITLVTEDIALPLMKVLSFKGYWEKLNSNLEYVKYAKPHFHYNNSVVRREWHNLISEEKTGKRRSAAYVRNILDNAVKVISNLEARNLGPRLTPLLQEEDSHQRLLMGLMVSELKDHFLRHLQGVEKKKIEQMVLDYISKLLDLICHIVETNWRKHNLHSWVLHFNSRGSAAEFAVFHIMTRILEATNSLFLPLPPGFHTLHTILGVQCLPLHNLLHCIDSGVLLLTETAVIRLMKDLDNTEKNEKLKFSIIVRLPPLIGQKICRLWDHPMSSNIISRNHVTRLLQNYKKQPRNSMINKSSFSVEFLPLNYFIEILTDIESSNQALYPFEGHDNVDAEFVEEAALKHTAMLLGL", "length": 854, "header": "sp|A4D1B5-1|GSAP_HUMAN Isoform 1 of Gamma-secretase-activating protein OS=Homo sapiens OX=9606 GN=GSAP PE=1 SV=2 CANONICAL=A4D1B5-1" }, "isoforms": [ { "isoform_ac": "A4D1B5-1", "url": "", "sequence": { "sequence": "MALRLVADFDLGKDVLPWLRAQRAVSEASGAGSGGADVLENDYESLHVLNVERNGNIIYTYKDDKGNVVFGLYDCQTRQNELLYTFEKDLQVFSCSVNSERTLLAASLVQSTKEGKRNELQPGSKCLTLLVEIHPVNNVKVLKAVDSYIWVQFLYPHIESHPLPENHLLLISEEKYIEQFRIHVAQEDGNRVVIKNSGHLPRDRIAEDFVWAQWDMSEQRLYYIDLKKSRSILKCIQFYADESYNLMFEVPLDISLSNSGFKLVNFGCDYHQYRDKFSKHLTLCVFTNHTGSLCVCYSPKCASWGQITYSVFYIHKGHSKTFTTSLENVGSHMTKGITFLNLDYYVAVYLPGHFFHLLNVQHPDLICHNLFLTGNNEMIDMLPHCPLQSLSGSLVLDCCSGKLYRALLSQSSLLQLLQNTCLDCEKMAALHCALYCGQGAQFLEAQIIQWISENVSACHSFDLIQEFIIASSYWSVYSETSNMDKLLPHSSVLTWNTEIPGITLVTEDIALPLMKVLSFKGYWEKLNSNLEYVKYAKPHFHYNNSVVRREWHNLISEEKTGKRRSAAYVRNILDNAVKVISNLEARNLGPRLTPLLQEEDSHQRLLMGLMVSELKDHFLRHLQGVEKKKIEQMVLDYISKLLDLICHIVETNWRKHNLHSWVLHFNSRGSAAEFAVFHIMTRILEATNSLFLPLPPGFHTLHTILGVQCLPLHNLLHCIDSGVLLLTETAVIRLMKDLDNTEKNEKLKFSIIVRLPPLIGQKICRLWDHPMSSNIISRNHVTRLLQNYKKQPRNSMINKSSFSVEFLPLNYFIEILTDIESSNQALYPFEGHDNVDAEFVEEAALKHTAMLLGL", "length": 854, "header": "sp|A4D1B5-1|GSAP_HUMAN Isoform 1 of Gamma-secretase-activating protein OS=Homo sapiens OX=9606 GN=GSAP PE=1 SV=2 CANONICAL=A4D1B5-1" }, "locus": { "chromosome": "7", "start_pos": 77416321, "end_pos": 77311361, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000257626.12", "url": "https://www.ensembl.org/id/ENST00000257626.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000257626.7", "url": "https://www.ensembl.org/id/ENSP00000257626.7" } ] } }, { "isoform_ac": "A4D1B5-2", "url": "", "sequence": { "sequence": "MALRLVADFDLGKDVLPWLRAQRAVSEASGAGSGGADVLENDYESLHVLNVERNGNIIYTYKDDKGNVVFGLYDCQTRQNELLYTFEKDLQVFSCSVNSERTLLAASLVQSTKEGKRNELQPGSKCLTLLVEIHPVNNVKVLKAVDSYIWVQFLYPHIESHPLPENHLLLISEEKYIEQFRIHVAQEDGNRVVIKNSGHLPRDRIAEDFVWAQWDMSEQRLYYIDLKKSRSILKCIQFYADESYNLMFEVPLDISLSNSGFKLVNFGCDYHQYRDKFSKHLTLCVFTNHTGSLCVCYSPKCASWGQITYSVFYIHKGHSKTFTTSLENVGSHMTKGITFLNLDYYVAVYLPGHFFHLLNVQHPDLICHNLFLTGNNEMIDMLPHCPLQSLSGSLVLDCCSGKLYRALLSQSSLLQLLQNTCLDCEKMAALHCALYCGQGAQFLEAQWRQRADLNTNRVLSDFLKIIQWISENVSACHSFDLIQEFIIASSYWSVYSETSNMDKLLPHSSVLTWNTEIPGITLVTEDIALPLMKVLSFKGYWEKLNSNLEYVKYAKPHFHYNNSVVRREWHNLISEEV", "length": 577, "header": "sp|A4D1B5-2|GSAP_HUMAN Isoform 2 of Gamma-secretase-activating protein OS=Homo sapiens OX=9606 GN=GSAP PE=1 SV=2 CANONICAL=A4D1B5-1" }, "locus": {} }, { "isoform_ac": "A4D1B5-3", "url": "", "sequence": { "sequence": "MALRLVADFDLGKDVLPWLRAQRAVSEASGAGSGGADVLENDYESLHVLNVERNGNIIYTYKDDKGNVVFGLYDCQTRQNELLYTFEKDLQVFSCSVNSERTLLAASLVQSTKEGKRNELQPGSKCLTLLVEIHPVNNVKVLKAVDSYIWVQFLYPHIESHPLPENHLLLISEEKYIEQFRIHVAQEDGNRVVIKNSGHLPRDRIAEDFVWAQWDMSEQRLYYIDLKKSRSILKCIQFYADESYNLMFEVPLDISLSNSGFKLVNFGCDYHQYRDKFSKHLTLCVFTNHTGSLCVCYSPKCASWGQITYSVFYIHKGHSKTFTTSLENVGSHMTKGITFLNLDYYVAVYLPGHFFHLLNVQHPDLICHNLFLTGNNEMIDMLPHCPLQSLSGSLVLDCCSGKLYRALLSQSSLLQLLQNTCLDCEKMAALHCALYCGQGAQFLEAQIIQWISENVSACHSFDLIQEFIIASSYWSVYSETSNMDKLLPHSSVLTWNTEIPGITLVTEDIALPLMKVLSFKGYWEKLNSNLEYVKYAKPHFHYNNSVVRREWHNLISEEV", "length": 559, "header": "sp|A4D1B5-3|GSAP_HUMAN Isoform 3 of Gamma-secretase-activating protein OS=Homo sapiens OX=9606 GN=GSAP PE=1 SV=2 CANONICAL=A4D1B5-1" }, "locus": {} }, { "isoform_ac": "A4D1B5-4", "url": "", "sequence": { "sequence": "MGLMVSELKDHFLRHLQGVEKKKIEQMVLDYISKLLDLICHIVETNWRKHNLHSWVLHFNSRGSAAEFAVFHIMTRILEATNSLFLPLPPGFHTLHTILGVQCLPLHNLLHCIDSGVLLLTETAVIRLMKDLDNTEKNEKLKFSIIVRLPPLIGQKICRLWDHPMSSNIISRNHVTRLLQNYKKQPRNSMINKSSFSVEFLPLNYFIEILTDIESSNQALYPFEGHDNVDAEFVEEAALKHTAMLLGL", "length": 248, "header": "sp|A4D1B5-4|GSAP_HUMAN Isoform 4 of Gamma-secretase-activating protein OS=Homo sapiens OX=9606 GN=GSAP PE=1 SV=2 CANONICAL=A4D1B5-1" }, "locus": {} }, { "isoform_ac": "B7ZL33-1", "url": "", "sequence": { "sequence": "MTRILEATNSLFLPLPPGFHTLHTILGVQCLPLHNLLHCIDSGVLLLTETAVIRLMKDLDNTEKNEKLKFSIIVRLPPLIGQKICRLWDHPMSSNIISRNHVTRLLQNYKKQPRNSMINKSSFSVEFLPLNYFIEILTDIESSNQALYPFEGHDNVDAEFVEEAALKHTAMLLGL", "length": 175, "header": "tr|B7ZL33-1|B7ZL33_HUMAN Computationally mapped isoform of PION protein OS=Homo sapiens OX=9606 GN=GSAP PE=1 SV=1 CANONICAL=A4D1B5-1" }, "locus": { "chromosome": "7", "start_pos": 77320776, "end_pos": 77311361, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441833.6", "url": "https://www.ensembl.org/id/ENST00000441833.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000415402.2", "url": "https://www.ensembl.org/id/ENSP00000415402.2" } ] } }, { "isoform_ac": "H7C0Q7-1", "url": "", "sequence": { "sequence": "VLSFKGYWEKLNSNLEYVKYAKPHFHYNNSVVRREWHNLISEEKTGKRRSAAYVRNILDNAVKVISNLEARNLGPRLTPLLQEEDSHQRLLMGLLDLICHIVETNWRKHNLHSWVLHFNSRGSAAEFAVFHIMTRILEATNSLFLPLPPGFHTLHTILGVQCLPLHNLLHCIDSGVLLLTETAVIRLM", "length": 188, "header": "tr|H7C0Q7-1|H7C0Q7_HUMAN Computationally mapped isoform of Gamma-secretase activating protein OS=Homo sapiens OX=9606 GN=GSAP PE=1 SV=1 CANONICAL=A4D1B5-1" }, "locus": { "chromosome": "7", "start_pos": 77330367, "end_pos": 77314374, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415112.2", "url": "https://www.ensembl.org/id/ENST00000415112.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000396230.2", "url": "https://www.ensembl.org/id/ENSP00000396230.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Gamma-secretase activating protein is a therapeutic target for Alzheimer's disease.", "journal": "Nature", "date": "2010", "authors": "He G, Luo W, Li P, Remmers C, Netzer WJ, Hendrick J, Bettayeb K, Flajolet M, Gorelick F, Wennogle LP, Greengard P", "evidence": [ { "database": "UniProtKB", "id": "A4D1B5", "url": "https://www.uniprot.org/uniprot/A4D1B5" }, { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "20811458", "url": "https://glygen.org/publication/PubMed/20811458" } ] }, { "title": "Immunohistochemical characterization of gamma-secretase activating protein expression in Alzheimer's disease brains.", "journal": "Neuropathology and applied neurobiology", "date": "2012", "authors": "Satoh J, Tabunoki H, Ishida T, Saito Y, Arima K", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "21718343", "url": "https://glygen.org/publication/PubMed/21718343" } ] }, { "title": "Purification and characterization of the human gamma-secretase activating protein.", "journal": "Biochemistry", "date": "2012", "authors": "Deatherage CL, Hadziselimovic A, Sanders CR", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "22681044", "url": "https://glygen.org/publication/PubMed/22681044" } ] }, { "title": "The role of gamma-secretase activating protein (GSAP) and imatinib in the regulation of gamma-secretase activity and amyloid-beta generation.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Hussain I, Fabregue J, Anderes L, Ousson S, Borlat F, Eligert V, Berger S, Dimitrov M, Alattia JR, Fraering PC, Beher D", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "23209290", "url": "https://glygen.org/publication/PubMed/23209290" } ] }, { "title": "Common GSAP promoter variant contributes to Alzheimer's disease liability.", "journal": "Neurobiology of aging", "date": "2014", "authors": "Zhu M, Tao Y, He Q, Gao H, Song F, Sun YM, Li HL, Wu ZY, Saffen D", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "25037285", "url": "https://glygen.org/publication/PubMed/25037285" } ] }, { "title": "Regulation of gamma-secretase activating protein by the 5Lipoxygenase: in vitro and in vivo evidence.", "journal": "Scientific reports", "date": "2015", "authors": "Chu J, Li JG, Hoffman NE, Stough AM, Madesh M, Pratico D", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "26076991", "url": "https://glygen.org/publication/PubMed/26076991" } ] }, { "title": "Frontal Cortex and Hippocampal gamma-Secretase Activating Protein Levels in Prodromal Alzheimer Disease.", "journal": "Neuro-degenerative diseases", "date": "2017", "authors": "Perez SE, Nadeem M, Malek-Ahmadi MH, He B, Mufson EJ", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "28743126", "url": "https://glygen.org/publication/PubMed/28743126" } ] }, { "title": "GSAP regulates lipid homeostasis and mitochondrial function associated with Alzheimer's disease.", "journal": "The Journal of experimental medicine", "date": "2021", "authors": "Xu P, Chang JC, Zhou X, Wang W, Bamkole M, Wong E, Bettayeb K, Jiang LL, Huang T, Luo W, Xu H, Nairn AC, Flajolet M, Ip NY, Li YM, Greengard P", "evidence": [ { "database": "RefSeq", "id": "NP_059135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059135" } ], "reference": [ { "type": "PubMed", "id": "34156424", "url": "https://glygen.org/publication/PubMed/34156424" } ] } ], "pathway": [ { "id": "hsa:54103", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54103", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q24118-1", "protein_name": "Protein pigeon", "gene_name": "pigeon", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLRQENLAANFCGLLASQGYKEKANEWRILGQEQDGSLLTSWIFEYADEDQRKETCIGHFHATKKQLRLLWTLDNCREIVQATINSSVTLLSFVEKTEGKLYQAFVVEVRSSEGGTATPLNSEPSNRQMMTQFLWRVESATRTCWQDKLLVLTHEESIKQYSCVVKQSSTTCSTGGGEGSAWRLDTSILTYETLARNFSWAQWDPECQALYYIHLKPKAKSLSLLDEREEAGEQTTPTLSPTLSAFQFNEKQPTETVLNIPLNLPKLPNGSKEESPSYDDDAVPLRVHDSSLNLIILADTSGMFFVCHYYLYQPMQSEQRDVHFAYSVTLLHHGYVVHCVMPGVPWQKARLLRPTFALHGQHHLLVSSAFFVHLLDVGLQHEPNCHIVCAAHNRSPDITQLVPLRKWGALAYDAATLDLVSLSVPKSHLIEAFRNDSSLDNRISIIHYFLLHSNDMDVLAELLNNILERPLSLDTVALLKEALVAGSYAAAVRGLPEDAKPLMRLLPLTTALASRPIHAKVADISVGLSHETLHNTSMMLLSPQQRLSPYRTDIWTRLWDLLNESAKQEQPRFSAEQVTEKLIFSLACYQPEALSRCTTPLSPDTGTGGFGDYSSGSAFPFSNEVLPFIELEGCTASKQEHVISVYLRELSVHLVKHTSKPNTGFRWLKETFFERSQAPAHVHAVASQFVSAQLELSRALCSLVCRAAGLDARMETSRGFQLIDQMAANQQHSLFLILERYCLAVESIAFPLPEGFSSFFTYLGYRALGYDMFLQYVENHVFELQVDVMKAIVFDIEDSPLGIERKLSLLSALPKQRAQRLLKCWQHPDSLMIRGREHAANILSGQQQEVLHQQRPTACVNQSRNNARSDLTAEALSPLDSFLDLLTAKASLNELDYNLLIETTLSSIDQLKLEA", "length": 915 }, "evidence": [ { "id": "A4D1B5", "url": "https://omabrowser.org/oma/group/A4D1B5/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q3TCV3-1", "protein_name": "Gamma-secretase-activating protein", "gene_name": "Gsap", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALRLVTHFDVLEDVLPSLLTQAATTDEGDRAGVLETTYGSLRVLNIERNGNIIYTYKDNKGNAVFGLYDCQTRQNEHLYTFEKDMQAVSCSVNSERTVLAASFIQYTTEGVKNDLQPGSKCLTLLVEIHPVNNVKVLKAVDSCVWVQFLYPQAESHLLPQNHLLLISEEKYIERFHIQITREDGDRVVIRNSSHLPRDRLAEDFVWAQWDLSEQRLYYIELKESRSILKCIQFRADESFNLMFEMPLDITLTGLRFKLVNFGYDYRQDREKLCNQPSLCIFTNHTGSLCMCYSPKSDSREEITYSVFYLHKGYRKIFTAAPGSADSQVTNGADSQVTDGIAFLNLGYFVAVYSPGHFLHLLNIQHPDLVCHSLFLTGNNKIAAVLPPSPLQSLPGSLVLDCYSGKVYRVTLDQSYLLRFLWNAHLDCERMAALHCILSCSQDPGFPEEQIIQWISEHVSACHSFDLIQEFLIASSYWSVYAELDDMGMLLQYSSVLTWNTEIPGIKFTTEELPLPLMKVYGLKGYWAKLNSNLEYIKYTKPHLHYHNSVVRREWHNLISEERTGKRRSTMYVRNILENAMKVIASMETRTLEPRLIPFLQEEDRHQRLLMGLMVSELRDHLLRHLQGVEKKKIEQMVLDYISKLLDLIWCLLETSWRKHSMHPLVLHLNSHCSAADFEVFHLMTRILDAASSLCLPLPPGFHSLHTILGVHCLPLYSLLHYIDNGVLLLTETAVTRLMKDLDNSEKNEQLKFSIIVRLPPLIGQKVCRLWDHPMSSNIISRNHVARLLKNYRKEPRNSMIDKSSFPVEFLPLNYFIEILMGLESSNQALYGFEGHDNVDAEFVEEAALKHTTMLLGL", "length": 858 }, "evidence": [ { "id": "45920002", "url": "http://www.informatics.jax.org/homology/45920002", "database": "MGI" }, { "id": "A4D1B5", "url": "https://omabrowser.org/oma/group/A4D1B5/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "A4D1B5", "url": "https://www.uniprot.org/uniprot/A4D1B5" } ], "pmid": "" }, { "name": "regulation of proteolysis", "id": "GO:0030162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030162", "evidence": [ { "database": "UniProtKB", "id": "A4D1B5", "url": "https://www.uniprot.org/uniprot/A4D1B5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "A4D1B5", "url": "https://www.uniprot.org/uniprot/A4D1B5" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "A4D1B5", "url": "https://www.uniprot.org/uniprot/A4D1B5" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 288, "end_pos": 290, "annotation": "n_glycosylation_sequon" }, { "start_pos": 454, "end_pos": 456, "annotation": "n_glycosylation_sequon" }, { "start_pos": 543, "end_pos": 545, "annotation": "n_glycosylation_sequon" }, { "start_pos": 798, "end_pos": 800, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The protein is first synthesized as a holoprotein form of 98 kDa and rapidly processed into the gamma-secretase-activating protein 16 kDa C-terminal form, which constitutes the predominant form.", "evidence": [ { "database": "UniProtKB", "id": "A4D1B5", "url": "https://www.uniprot.org/uniprot/A4D1B5" }, { "database": "PubMed", "id": "20811458", "url": "https://glygen.org/publication/PubMed/20811458" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 288, "end_pos": 290 }, { "start_pos": 454, "end_pos": 456 }, { "start_pos": 543, "end_pos": 545 }, { "start_pos": 798, "end_pos": 800 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }