BANF1

Neurofibromin UniProt accession P21359

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity

Source: UniProt

Interacts with HTR6 (PubMed:23027611). Interacts with SPRED2 (PubMed:34626534)

Source: UniProt
Nucleus, Nucleus, nucleolus, Cell membrane
Source: UniProt

Detected in brain, peripheral nerve, lung, colon and muscle

Source: UniProt

Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol

Source: UniProt
  • Neurofibromatosis 1 (NF1)

    A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.

  • Leukemia, juvenile myelomonocytic (JMML)

    An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.

  • Watson syndrome (WTSN)

    A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis.

  • Familial spinal neurofibromatosis (FSNF)

    Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.

  • Neurofibromatosis-Noonan syndrome (NFNS)

    Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.

  • Colorectal cancer (CRC)

    A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

Source: UniProt
  • Regulation of RAS by GAPs
  • RAS signaling downstream of NF1 loss-of-function variants
Source: Reactome via UniProt

Mutations

No mutation information available.

Synthetic Lethal Network

Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to BANF1, aggregated across our SSL data sources. Click any partner node to view that gene’s page.

Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.

BioGRID SLOrth SynLethDB MexDrugs Multi-source
Sources: BioGRID, SLOrth, SynLethDB, MexDrugs

Clinical Trials

Total Trials Found: 8

NCT ID Condition Brief Title Phase Status
NCT06262113 Neurofibromatosis 1 A Decentralized Clinical Trial to Promote Evidence-Based Care for Underserved Patients With Neurofibromatosis 1 NA RECRUITING
NCT05253131 MPNST, NF1, Sarcoma Trial of Selumetinib and Bromodomain Inhibitor With Durvalumab for Sarcomas PHASE2 NOT_YET_RECRUITING
NCT04435665 Neurofibromatosis 1, Cutaneous Neurofibroma NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF) PHASE2 COMPLETED
NCT04166409 Low Grade Astrocytoma, Low Grade Glioma, Metastatic Low Grade Astrocytoma, Metastatic Low Grade Glioma, WHO Grade 1 Glioma, WHO Grade 2 Glioma A Study of the Drugs Selumetinib vs. Carboplatin and Vincristine in Patients With Low-Grade Glioma PHASE3 RECRUITING
NCT01125046 Acoustic Schwannoma, Adult Anaplastic Meningioma, Adult Ependymoma, Adult Grade I Meningioma, Adult Grade II Meningioma, Adult Meningeal Hemangiopericytoma, Adult Papillary Meningioma, Neurofibromatosis Type 1, Neurofibromatosis Type 2, Recurrent Adult Brain Tumor Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas PHASE2 COMPLETED
NCT01222728 Neoplasms, Nervous System Disease, Vestibular Disease Using Positron Emission Tomography to Predict Intracranial Tumor Growth in Neurofibromatosis Type II Patients N/A COMPLETED
NCT06132165 Neurofibromatosis 1 Efficacy of Skin Cooling in Reducing Pain Associated With Non-invasive Treatments of Neurofibromatosis Type 1 Cutaneous Neurofibromas PHASE1 COMPLETED
NCT04759781 Melanoma MElanoma Research Lymph Node Prediction Implementation National_001 N/A ACTIVE_NOT_RECRUITING
NCT03050268 Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML, BAP1 Tumor Predisposition Syndrome, Carney Complex, Choroid Plexus Carcinoma, Constitutional Mismatch Repair Deficiency Syndrome, Diamond-Blackfan Anemia, DICER1 Syndrome, Dyskeratosis Congenita, Emberger Syndrome, Familial Acute Myeloid Leukemia, Familial Adenomatous Polyposis, Fanconi Anemia, Familial Cancer, Familial Wilms Tumor, Familial Neuroblastoma, GIST, Hereditary Breast and Ovarian Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome, Hodgkin Lymphoma, Juvenile Polyposis, Li-Fraumeni Syndrome, Lynch Syndrome, MDS, Melanoma Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Neuroblastoma, Neurofibromatosis Type 1, Neurofibromatosis Type II, Nevoid Basal Cell Carcinoma Syndrome, Non Hodgkin Lymphoma, Noonan Syndrome and Other Rasopathy, Overgrowth Syndromes, Pancreatic Cancer, Peutz-Jeghers Syndrome, Pheochromocytoma/Paraganglioma, PTEN Hamartoma Tumor Syndrome, Retinoblastoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, Rothmund-Thomson Syndrome, Tuberous Sclerosis, Von Hippel-Lindau Disease Familial Investigations of Childhood Cancer Predisposition N/A RECRUITING
NCT02934256 Vestibular Schwannoma, Neurofibromatosis Type 2 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors PHASE2 COMPLETED