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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Background
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1
Esposito, T., Piluso, G., Saracino, D., Uccello, R., Schettino, C., Dato, C., Capaldo, G., Giugliano, T., Varriale, B., Paolisso, G., et al. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13396 · Cited by 15
“…encodes neurofibromin, a cytoplasmic protein consisting of 2818 amino acids, characterized by a centrally positioned Ras-specific GTPase-activating domain actingasanegativeregulatorofRas/MAPK,withacardinal role in mitogenic intracellular signaling pathways (Xu et al. 1990; Gutmann et al. 1991).”
Background
Neurofibromatosis: Molecular Pathogenesis and Natural Compounds as Potential Treatments
Amaravathi, A., Oblinger, J. L., Welling, D. B., Kinghorn, A. D., & Chang, L. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.698192 · Cited by 15
The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: Evidence from Finland
Johansson, E., Kallionpää, R. A., Böckerman, P., Peltonen, S. A., & Peltonen, J. T. K. (2021) · Genetics in Medicine · doi:10.1016/j.gim.2021.11.024 · Cited by 14
How Genetics Has Helped Piece Together the MAPK Signaling Pathway
Ashton‐Beaucage, D., & Therrien, M. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-6424-6_1 · Cited by 15
Pseudogenes in gastric cancer pathogenesis: a review article
Emadi‐Baygi, M., Sedighi, R., Nourbakhsh, N., & Nikpour, P. (2017) · Briefings in Functional Genomics · doi:10.1093/bfgp/elx004 · Cited by 14
Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report
Abdessayed, N., Gupta, R., Mestiri, S., Bdioui, A., Trimech, M., & Mokni, M. (2017) · BMC Cancer · doi:10.1186/s12885-017-3567-z · Cited by 14
“It occurs due to germline mutation of the neurofibromatosis type 1 gene located on chromosome 17 [2].”
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes
Sárközy, A., Schirinzi, A., Lepri, F. R., Bottillo, I., Luca, A. D., Pizzuti, A., Tartaglia, M., Digilio, M. C., & Dallapiccola, B. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31666 · Cited by 14
“Indeed, NF1 and NFNS are mainly due to heterozygousmutations inNF1 [Xu et al., 1990; Baralle et al., 2003; De Luca et al., 2005], which encodes a GTPase activating protein (GAP), neurofibromin, negatively controlling RAS function [Cichowski and Jacks, 2001].”
Background
HOMOZYGOUS INACTIVATION OF THE NF1 GENE IN BONE MARROW CELLS FROM CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 AND MALIGNANT MYELOID DISORDERS
Ide, L. U. S., Aylor, R. T., Uce, M. I. L., & Hannon, K. E. S. (1997) · Cited by 14
NT-3 delivered by an adenoviral vector induces injured dorsal root axons to regenerate into the spinal cord of adult rats
Zhang, Y., Dijkhuizen, P. A., Anderson, P. N., Lieberman, A. R., & Verhaagen, J. (1998) · Journal of Neuroscience Research · doi:10.1002/(sici)1097-4547(19981115)54:4 · Cited by 99
p21ras in Carcinogenesis
Vries, J. E. D., ten Kate, J., & Bosman, F. T. (1996) · Pathology - Research and Practice · doi:10.1016/s0344-0338(96)80087-2 · Cited by 14
Regulated Expression of the Neurofibromin Type I Transcript in the Developing Chicken Brain
Baizer, L., Ciment, G., Hendrickson, S. K., & Schafer, G. L. (1993) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1993.tb07442.x · Cited by 14
Antibody against neurofibromatosis type 1 gene product reacts with a triton-insoluble GTPase activating protein toward ras p21
Hattori, S., Ohmi, N., Maekawa, M., Hoshino, M., Kawakita, M., & Nakamura, S. (1991) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(91)91951-8 · Cited by 14
Low molecular weight GTP-binding proteins in cardiac muscle. Association with a 32-kDa component related to connexins.
Doucet, J. P., Pierce, G. N., Hertzberg, E. L., & Tuana, B. S. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)42031-5 · Cited by 14
Differential contribution of Mr 120 kDa rasGTPase‐activating protein and neurofibromatosis type 1 gene product during the transition from growth phase to arrested state in human fibroblasts accompanied by a unique rasGTPase‐activating active
Kobayashi, M., Hashimoto, N., Hoshino, M., Hattori, S., & Iwashita, S. (1993) · FEBS Letters · doi:10.1016/0014-5793(93)80165-q · Cited by 14
The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain
Teinturier, C., Danglot, G., Slim, R., Pruliere, D., Launay, J., & Bemheim, A. (1992) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(92)91134-c · Cited by 14
Tumor suppressor genes: a new era for molecular genetic studies of cancer
Lee, E. Y.-H. P. (1991) · Breast Cancer Research and Treatment · doi:10.1007/bf01975199 · Cited by 14
High-dose folinic acid, 5-fluorouracil bolus and infusion in advanced pancreatic adenocarcinoma: a pilot study
Louvet, C., Beerblock, K., de Gramont, A., Varette, C., Demuynck, B., Bennamoun, M., Cady, J., Delfau, S., Maisani, J.-E., & KRULIK, M. (1993) · European Journal of Cancer · doi:10.1016/s0959-8049(05)80328-4 · Cited by 14
“The NF1 gene product contains a GTPase activating protein (GAP) domain which is capable of downregulating the p21ras signal [3-5]: one exon encoding part of this GAP domain is characterised by the presence of a highly conserved phenylalanine-leucine arginine (FLR) motif [6].”
Background
A case of neurofibromatosis and multiple sclerosis
Spinicci, G., Cherchi, M. V., Murru, R., Conti, M. V., & Marrosu, M. G. (2010) · Neurological Sciences · doi:10.1007/s10072-010-0252-2 · Cited by 13
“suppressor, reducing cell proliferation by inactivation of a cellular proto-oncogene, p21 ras, that promotes tumor formation [ 12 ].”
Background
One NF1 Mutation may Conceal Another
Pacot, L., Roziers, C. B. D., Laurendeau, I., Briand‐Suleau, A., Coustier, A., Mayard, T., Tlemsani, C., Faivre, L. O., Thomas, Q., Rodriguez, D., et al. (2019) · Genes · doi:10.3390/genes10090633 · Cited by 13
“3) encodes a 2818-amino-acid protein, neurofibromin, which shows tumor suppressor function [7] by negatively regulating the RAS-MAPK pathway [8].”
Background
Rab7: NMR and kinetics analysis of intact and C-terminal truncated constructs
Neu, M., Brachvogel, V., Oschkinat, H., Zerial, M., & Metcalf, P. (1997) · Proteins Structure Function and Bioinformatics · doi:10.1002/(sici)1097-0134(199702)27:2 · Cited by 19
Regulation of neurofibromin expression in rat sciatic nerve and cultured Schwann cells
Wrabetz, L. G., Feltri, M. L., Kim, H., Daston, M. M., Kamholz, J. A., Scherer, S. S., & Ratner, N. (1995) · Glia · doi:10.1002/glia.440150104 · Cited by 13
Rhabdomyosarcoma
Barr, F. G., & Womer, R. B. (2009) · Elsevier eBooks · doi:10.1016/b978-1-4160-3431-5.00019-4 · Cited by 13
Identification of a GTPase-Activating Protein Homolog in Schizosaccharomyces pombe
Imai, Y., Miyake, S., Hughes, D. A., & Yamamoto, M. P. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.6.3088-3094.1991 · Cited by 13
“Iral and Ira2 (37, 39) and human NF1 (9, 47) (Fig.”
BackgroundInfluential
Successful treatment of orbital rhabdomyosarcoma in two infants using chemotherapy alone
Silván, A. M. Á., Cantón, J. A. G., Cuevas, G. P., & Gutierrez, J. A. (1996) · Medical and Pediatric Oncology · doi:10.1002/(sici)1096-911x(199603)26:3 · Cited by 7
Contrasting levels of p21ras activation and expression of neurofibromin in peripheral primitive neuroectodermal tumour and neuroblastoma cells, and their response to retinoic acid
Burchill, S. A., Berry, P. A., Bradbury, F. M., & Lewis, I. J. (1998) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(98)00083-5 · Cited by 13
Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1
Ishii, S., Han, S., Shiiba, K.-I., Mizoi, T., Okabe, M., Horii, A., Nagura, H., Matsuno, S., & Sasaki, I. (2001) · International Journal of Clinical Oncology · doi:10.1007/pl00012105 · Cited by 13
Neurofibromatosis type 1
D'Angio, G. J., Evans, A. E., Janss, A., Hiehle, J. F., & Yachnis, A. T. (1995) · Medical and Pediatric Oncology · doi:10.1002/mpo.2950250310 · Cited by 13
Differential expression of NF1 type I and type II isoforms in sporadic borderline and invasive epithelial ovarian tumors
Iyengar, T., Ng, S.-W., Lau, C. C., Welch, W. R., Bell, D. A., Berkowitz, R. S., & Mok, S. C. (1999) · Oncogene · doi:10.1038/sj.onc.1202294 · Cited by 13
“The NF1 Type I protein exhibits a 30-fold lower speci®c activity for ras inactivation than Type I GAP, another GTPase which a ects ras activity.”
BackgroundInfluential
Autoimmunity of Diabetes
Lernmark, Å., Bärmeier, H., Dube, S., Hagopian, W., Karlsen, A. E., & Waßmuth, R. (1991) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30260-3 · Cited by 13
Expression of neurofibromin, the neurofibromatosis 1 gene product: Studies in human neuroblastoma cells and rat brain
Huynh, D. P., Lin, C. T., & Pulst, S. M. (1992) · Neuroscience Letters · doi:10.1016/0304-3940(92)90272-9 · Cited by 13
Lipoamide Inhibits NF1 Deficiency-induced Epithelial-Mesenchymal Transition in Murine Schwann Cells
Zhang, Y., Zhou, R., Qu, Y., Shu, M., Guo, S., & Bai, Z. (2017) · Archives of Medical Research · doi:10.1016/j.arcmed.2017.11.014 · Cited by 12
Construction of cloning-friendly minigenes for mammalian expression of full-length human NF1 isoforms
Cui, Y., & Morrison, H. (2018) · Human Mutation · doi:10.1002/humu.23681 · Cited by 12
“(M496I), which was inherited from a cDNA clone used in one original assembly of NF1 cDNA sequence (al-Alawi et al., 1993; Xu et al., 1990).”
Clinical trial design in neurofibromatosis type 1 as a model for other tumor predisposition syndromes
Gross, A. M., & Widemann, B. C. (2020) · Neuro-Oncology Advances · doi:10.1093/noajnl/vdaa017 · Cited by 12
Nested genes take flight
Mount, S. M., & Henikoff, S. (1993) · Current Biology · doi:10.1016/0960-9822(93)90205-3 · Cited by 12

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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