{"entity":{"id":"hip1","kind":"target","name":"HIP1","aka":["huntingtin interacting protein 1","Huntingtin-interacting protein 1","ILWEQ"],"tldr":"HIP1 (Huntingtin-interacting protein 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Breast cancer, Lung cancer and 3 more.","summary":"Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner. Regulates presynaptic nerve terminal activity.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes affected pathway 0.83, literature 0.86, genetic association 0.00, somatic mutation 0.83, animal model 0.62). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Medulloblastoma, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4913","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4913"},{"label":"UniProt O00291","url":"https://www.uniprot.org/uniprotkb/O00291/entry"},{"label":"NCBI Gene 3092","url":"https://www.ncbi.nlm.nih.gov/gene/3092"},{"label":"Ensembl ENSG00000127946","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127946"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","breast-cancer","lung-cancer","skin-cancer","medulloblastoma","uterine-carcinosarcoma"],"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: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" 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":"HIP1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4913","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4913","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00291","url":"https://www.uniprot.org/uniprotkb/O00291/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127946","url":"https://platform.opentargets.org/target/ENSG00000127946/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: skin cancer 0.50, breast cancer 0.56, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen HIP1","url":"https://www.intogen.org/search?gene=HIP1","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:4913","ensembl":"ENSG00000127946","uniprot":"O00291","entrez":"3092","biology":"Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner. Regulates presynaptic nerve terminal activity. Enhances androgen receptor (AR)-mediated transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway. Binds 3-phosphoinositides (via ENTH domain). Location: Cytoplasm; Nucleus; Endomembrane system; Cytoplasmic vesicle, clathrin-coated vesicle membrane (UniProt). Locus 7q11.23 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)","Uterine carcinosarcoma: IntOGen driver in 1 cohort (UCS)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/hip1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"medulloblastoma","kind":"cancer","name":"Medulloblastoma","route":"/cancers/medulloblastoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"},{"id":"uterine-carcinosarcoma","kind":"cancer","name":"Uterine carcinosarcoma","route":"/cancers/uterine-carcinosarcoma/"}]}}