{"entity":{"id":"ass1","kind":"target","name":"ASS1","aka":["argininosuccinate synthase 1","Argininosuccinate synthase","CTLN1"],"tldr":"ASS1 (Argininosuccinate synthase) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer and Sarcomas.","summary":"One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyses the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Carboplatin, Cisplatin, Pegargiminase and Chloroquine and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:758","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758"},{"label":"UniProt P00966","url":"https://www.uniprot.org/uniprotkb/P00966/entry"},{"label":"NCBI Gene 445","url":"https://www.ncbi.nlm.nih.gov/gene/445"},{"label":"Ensembl ENSG00000130707","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130707"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASS1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:758","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P00966","url":"https://www.uniprot.org/uniprotkb/P00966/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASS1","url":"https://civicdb.org/features/450","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer, Sarcoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ASS1: RNA group enriched (kidney 1,201 nTPM, liver 1,907 nTPM); blood lineage lineage enriched (dendritic cells 2 nTPM); high antibody staining in 5 normal tissues; highest cancer staining ovarian cancer (9 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ASS1 tissue","url":"https://www.proteinatlas.org/ENSG00000130707-ASS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000130707 associations","url":"https://platform.opentargets.org/target/ENSG00000130707/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:758","ensembl":"ENSG00000130707","uniprot":"P00966","entrez":"445","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bock H.-G.O. et al, Nucleic Acids Res, 1983, \"Sequence for human argininosuccinate synthetase cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6194510/","biology":"One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyses the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues. Location: Cytoplasm, cytosol (UniProt). Locus 9q34.11 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease","Sarcomas: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/ass1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}],"cancer":[{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}