Cited by 1,095Neurofibromatosis and Schwannoma CasesProtein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

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The neurofibromatosis type 1 gene encodes a protein related to GAP

Xu, Gangfeng, O'Connell, Peter, Viskochil, David, Cawthon, Richard, Robertson, Margaret, Culver, Melanie, Dunn, Diane, Stevens, Jeff, Gesteland, Ray, White, Ray, Weiss, Robert·1990·Cell

DOI 10.1016/0092-8674(90)90024-9

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Abstract

cDNA walking and sequencing have extended the open reading frame for the neurofibromatosis type 1 gene (NF1). The new sequence now predicts 2485 amino acids of the NF1 peptide. A 360 residue region of the new peptide shows significant similarity to the known catalytic domains of both human and bovine GAP (GTPase activating protein). A much broader region, centered around this same 360 amino acid sequence, is strikingly similar to the yeast IRA1 product, which has a similar amino acid sequence and functional homology to mammalian GAP. This evidence suggests that NF1 encodes a cytoplasmic GAP-like protein that may be involved in the control of cell growth by interacting with proteins such as the RAS gene product. Mapping of the cDNA clones has confirmed that NF1 spans a t(1;17) translocation mutation and that three active genes lie within an intron of NF1, but in opposite orientation.

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Neurofibromin controls macropinocytosis and phagocytosis in Dictyostelium
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“…Ras GTPase activating protein (RasGAP) Neurofibromin (NF1), a tumour suppressor that is mutated in the genetic disorder Neurofibromatosis type 1 (Xu et al., 1990), is a key regulator of both macropinocytosis and phagocytosis. eLife digest Dictyostelium amoebae are microbes that feed on bacteria…”
Background
The Gene Encoding the Oligodendrocyte-Myelin Glycoprotein Is Embedded within the Neurofibromatosis Type 1 Gene
Viskochil, D. H., Cawthon, R., O'Connell, P., Xu, G., Stevens, J., Culver, M., Carey, J. C., & White, R. L. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.2.906-912.1991 · Cited by 129
“0 and would be highly beneficial if the intron genes continue to be The three genes together span approximately expressed to some degree in tissues in which NFI is exence within one intron of NFl (40); the 5' end pressed.”
BackgroundSelf-citation
Role for the epidermal growth factor receptor in neurofibromatosis-related peripheral nerve tumorigenesis
Ling, B. C., Wu, J., Miller, S. J., Monk, K. R., Shamekh, R., Rizvi, T. A., deCourten-Myers, G., Vogel, K. S., DeClue, J. E., & Ratner, N. (2005) · Cancer Cell · doi:10.1016/j.ccr.2004.10.016 · Cited by 130
“B: Quantification of ligands present in nerve BTC BTC avg Ct GAPDH avg Ct Ct Ct Fold change W/T 31.94 0.02 25.46 0.49 6.48 0.49 0.00 0.49 1 (0.71–1.41) EGFR 27.90 0.02 27.76 0.15 5.14 0.15 1.34 0.15 2.53 (2.28–2.81) HBEGF HBEGF avg Ct GAPDH avg Ct Ct Ct Fold change W/T 31.42 0.05 27.61 0.50 3.81 0.50 0.00 0.60 1 (0.71…”
BackgroundInfluential
Cerebrospinal Fluid Proteomic Analysis Reveals Dysregulation of Methionine Aminopeptidase-2 Expression in Human and Mouse Neurofibromatosis 1–Associated Glioma
Dasgupta, B., Yi, Y., Hegedűs, B., Weber, J. D., & Gutmann, D. H. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-1842 · Cited by 128
“Within the central portion of neurofibromin is a 300–amino acid residue region which contains a Ras GTPaseactivating protein domain (5).”
Background
Characterization of full‐length neurofibromin: tubulin inhibits Ras GAP activity.
Bollag, G. E., McCormick, F. P., & Clark, R. (1993) · The EMBO Journal · doi:10.1002/j.1460-2075.1993.tb05841.x · Cited by 128
NF1 Mutations Are Common in Desmoplastic Melanoma
Wiesner, T., Kiuru, M. H., Scott, S. N., Arcila, M. E., Halpern, A. C., Hollmann, T. J., Berger, M. F., & BUSAM, K. J. (2015) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000000451 · Cited by 128
Soft‐tissue sarcomas in children and adolescents with neurofibromatosis type 1
Ferrari, A., Bisogno, G., Macaluso, A., Casanova, M., D’Angelo, P., Pierani, P., Zanetti, I., Alaggio, R., Cecchetto, G., & Carli, M. (2007) · Cancer · doi:10.1002/cncr.22533 · Cited by 127
“The gene involved in this genetic disorder is termed NF-1 and was cloned in 1990.(7,8) All individuals with NF1 have an NF-1 gene mutation.”
Background
Regulatory mechanisms for ras proteins
Downward, J. (1992) · BioEssays · doi:10.1002/bies.950140308 · Cited by 127
The Neurofibromatosis Type I Messenger RNA Undergoes Base-Modification RNA Editing
Skuse, G. R., Cappione, A., Sowden, M. P., Metheny, L. J., & Smith, H. C. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.3.478 · Cited by 126
Malignant peripheral nerve sheath tumors
Gupta, G., & Maniker, A. H. (2007) · Neurosurgical FOCUS · doi:10.3171/foc.2007.22.6.13 · Cited by 125
Malignant Peripheral Nerve Sheath Tumor
Zhou, H., Coffin, C. M., Perkins, S. L., Tripp, S. R., Liew, M. A., & Viskochil, D. H. (2003) · The American Journal of Surgical Pathology · doi:10.1097/00000478-200310000-00006 · Cited by 125
“The function of the NF1 gene product, neurofibromin, is to reduce cell signal transduction by accelerating inactivation of the proto-oncogene p21ras.(32,51,59) Mutations in NF1generally lead to increased ras signaling, and individuals with NF1 have an increased risk of developing both benign and malignant tumors, espe…”
BackgroundSelf-citation
Neurofibromin Regulates Neural Stem Cell Proliferation, Survival, and Astroglial Differentiation In Vitro and In Vivo
Dasgupta, B. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.4693-04.2005 · Cited by 125
“Consistent with the established function of the NF1 gene product (neurofibromin) in RAS inhibition (Ballester et al., 1990; Martin et al., 1990; Xu et al., 1990), OPGs also arise in Nf1 / mice as a result of dysregulated K-RAS activity in astrocytes (Dasgupta et al.”
Background
Human SPA-1 Gene Product Selectively Expressed in Lymphoid Tissues Is a Specific GTPase-activating Protein for Rap1 and Rap2
Kurachi, H., Wada, Y., Tsukamoto, N., Maeda, M., KUBOTA, H. Y., Hattori, M., Iwaï, K., & Minato, N. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.44.28081 · Cited by 124
Ras protein signalling
Olson, M. F., & Marais, R. (2000) · Seminars in Immunology · doi:10.1006/smim.2000.0208 · Cited by 124
Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development
Daston, M. M., & Ratner, N. (1992) · Developmental Dynamics · doi:10.1002/aja.1001950307 · Cited by 123
Pendulin, a Drosophila protein with cell cycle-dependent nuclear localization, is required for normal cell proliferation.
Küssel‐Andermann, P., & Frasch, M. (1995) · The Journal of Cell Biology · doi:10.1083/jcb.129.6.1491 · Cited by 122
“For instance, mutation of NF1, a GTPase-activating protein, appears to create a constitutive proliferative signal in neuronal tissues only, although the protein is expressed in other tissues as well (Xu et al., 1990; Daston and Ratner, 1992).”
Mast cells and the neurofibroma microenvironment
Staser, K. W., Yang, F., & Clapp, D. W. (2010) · Blood · doi:10.1182/blood-2009-09-242875 · Cited by 125
“and IRA2, converts active Ras from its GTP-bound state to its inactive guanine diphosphate (GDP)-bound state.(3,13,16,21,62,63) Loss of GAPs can induce neoplasia through increased cellular growth, proliferation, and migration.”
Background
Spatiotemporal Differences in CXCL12 Expression and Cyclic AMP Underlie the Unique Pattern of Optic Glioma Growth in Neurofibromatosis Type 1
Warrington, N. M., Woerner, B. M., Daginakatte, G., Dasgupta, B., Perry, A., Gutmann, D. H., & Rubin, J. B. (2007) · Cancer Research · doi:10.1158/0008-5472.can-06-2220 · Cited by 121
Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms
Carroll, S. L. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0928-6 · Cited by 120
“However, this intrinsic GTPase activity is inefficient and, in isolation, cleaves GTP as a very low rate; GAPs such as IRA1 and IRA2 facilitate Ras inactivation by binding to Ras and enhancing its GTPase activity by several orders of magnitude.”
Influential
Recent developments in neurofibromatosis type 1
Lee, M., & Stephenson, D. A. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3280895da8 · Cited by 120
Intramedullary Spinal Cord Tumors in Neurofibromatosis
Lee, M. W., Rezai, A. R., Freed, D. L., & Epstein, F. J. (1996) · Neurosurgery · doi:10.1097/00006123-199601000-00009 · Cited by 119
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
Pasmant, É., Sabbagh, A., Hanna, N., Masliah‐Planchon, J., Jolly, E. R., Goussard, P., Ballerini, P. F., Cartault, F., Barbarot, S., Landman‐Parker, J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.065243 · Cited by 118
Abdominal Neoplasms in Patients with Neurofibromatosis Type 1: Radiologic-Pathologic Correlation
Levy, A. D., Patel, N. D., Dow, N. S., Abbott, R. M., Miettinen, M., & Sobin, L. H. (2005) · Radiographics · doi:10.1148/rg.252045176 · Cited by 115
Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I
Wang, W., Nyman, J. S., Ono, K., Stevenson, D. A., Yang, X., & Elefteriou, F. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr310 · Cited by 114
“Neurofibromin is a specific suppressor of p21-RAS, and mutations in this gene cause unsuppressed activation of RAS, leading to abnormal cell growth and differentiation and to the clinical features of NF1 (3).”
Background
Growth inhibition of astrocytoma cells by farnesyl transferase inhibitors is mediated by a combination of anti-proliferative, pro-apoptotic and anti-angiogenic effects
Feldkamp, M. M., Lau, N. C., & Guha, A. (1999) · Oncogene · doi:10.1038/sj.onc.1203105 · Cited by 114
“GDP through an intrinsic GTPase activity, catalyzed by GTPase Activating Proteins (Ras-GAPs), predominantly p120-GAP and neuro®bromin, the protein product of the NF1 gene (Downward, 1992; Xu et al., 1990).”
Background
Pathogenesis of Plexiform Neurofibroma: Tumor-Stromal/Hematopoietic Interactions in Tumor Progression
Staser, K. W., Yang, F., & Clapp, D. W. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011811-132441 · Cited by 113
“Neurofibromin, which contains a highly-conserved GAP-related domain (GRD) with homology to the yeast gene products IRA1 and IRA2, logarithmically accelerates the intrinsic hydrolysis of active GTP-bound Ras to its GDP-bound state (47, 52, 65, 68, 76, 132).”
BackgroundInfluential
Amino acid management in cancer
Tsun, Z.-Y., & Possemato, R. (2015) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2015.08.002 · Cited by 120
Farnesyltransferase inhibitors block the neurofibromatosis type I (NF1) malignant phenotype.
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Mouse Mutants and Cardiac Development
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IRA2, an upstream negative regulator of RAS in yeast, is a RAS GTPase-activating protein.
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The role of p21ras in receptor tyrosine kinase signalling
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FDA Approval Summary: Selumetinib for Plexiform Neurofibroma
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“Oropharyngeal pain 24 (48) 0 30 (41) 0 Paronychia(6) 24 (48) 3 (6) 35 (47) 7 (10)”
A Novel Mammalian Ras GTPase-Activating Protein Which Has Phospholipid-Binding and Btk Homology Regions
Maekawa, M., Li, S., Iwamatsu, A., Morishita, T., Yokota, K., Imai, Y., Kohsaka, S., Nakamura, S., & Hattori, S. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.10.6879 · Cited by 111

Authors: Xu, G., O'Connell, P., Viskochil, D., Cawthon, R., Robertson, M., Culver, M., Dunn, D., Stevens, J., Gesteland, R., White, R., & Weiss, R.
Affiliations: Howard Hughes Medical Institute (US)
University of Utah (US)
ORCID: O'Connell, Peter
Viskochil, David
Cawthon, Richard
Culver, Melanie
Stevens, Jeff
Weiss, Robert
Venue: Cell
Publisher: Elsevier BV
Published: 1990-08
Volume: 62
Issue: 3
Pages: 599-608
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/0092-8674(90)90024-9
OpenAlex: W2159096148
Cited by: 1,095
References: 42
Citations by year: 2026: 7 · 2025: 13 · 2024: 19 · 2023: 19 · 2022: 22 · 2021: 22 · 2020: 22 · 2019: 18 · 2018: 22 · 2017: 17 · 2016: 19 · 2015: 21 · 2014: 24 · 2013: 24 · 2012: 45
FWCI: 70.71
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
Funders: Howard Hughes Medical Institute
U.S. Department of Energy
Topics: Health Sciences › Medicine › Clinical Neurology › Neurofibromatosis and Schwannoma Cases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Tyrosine Phosphatases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Kinase Regulation and GTPase Signaling
Keywords: neurofibromatosis type 1, NF1 gene, GTPase-activating protein, Ras, open reading frames, cDNA cloning, cell growth regulation, protein homology
MeSH terms: Amino Acid Sequence, Animals, Base Sequence, Cattle, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 17, Cloning, Molecular, Genes, Humans, Information Systems, Molecular Sequence Data, Neurofibromatosis 1, Proteins, Sequence Homology, Nucleic Acid, Translocation, Genetic, Oligonucleotide Probes, Gene Library, Polymerase Chain Reaction, GTPase-Activating Proteins, ras GTPase-Activating Proteins, Neurofibromin 1

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The neurofibromatosis type 1 gene encodes a protein related to GAP

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