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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“Analysis of the NF1 sequence revealed a 360–amino acid domain with similarities to guanosine triphosphatase–activating proteins (GAPs).(7)”
Background
Structural Differences in the Minimal Catalytic Domains of the GTPase-activating Proteins p120GAP and Neurofibromin
Ahmadian, M. R., Wiesmüller, L., Lautwein, A., Bischoff, F. R., & Wittinghofer, A. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.27.16409 · Cited by 80
Neurofibromin, a Tumor Suppressor in the Nervous System
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Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1
Kaas, B. M., Huisman, T. A. G. M., Tekes, A., Bergner, A. L., Blakeley, J. O., & Jordan, L. C. (2012) · Journal of Child Neurology · doi:10.1177/0883073812448531 · Cited by 80
“The protein product of NF1 is neurofibromin, a guanosine triphosphatase–activating protein that negatively regulates Ras activity.(2,3) Neurofibromatosis type 1 is characterized by nerve sheath neurofibromas but has a number of additional clinical features.”
Background
Aberrant Ras Regulation and Reduced p190 Tyrosine Phosphorylation in Cells Lacking p120-Gap
van der Geer, P., Henkemeyer, M. J., Jacks, Y., & Pawson, T. J. (1997) · Molecular and Cellular Biology · doi:10.1128/mcb.17.4.1840 · Cited by 78
Ras p21: effects and regulation
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Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells
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Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
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Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I
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The Genetic and Molecular Pathogenesis of NF1 and NF2
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DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: Two novel mutations
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Identification of a GTPase-activating protein homolog in Schizosaccharomyces pombe.
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Neurofibromatosis-related tumors
Karajannis, M. A., & Ferner, R. E. (2014) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000169 · Cited by 73
Evaluation of NF2 and NF1 Tumor Suppressor Genes in Distinctive Gastrointestinal Nerve Sheath Tumors Traditionally Diagnosed as Benign Schwannomas: A Study of 20 Cases
Lasota, J. P., Wasąg, B., Dansonka‐Mieszkowska, A., Karcz, D., Millward, C. L., Ryś, J., Stachura, J., Sobin, L. H., & Miettinen, M. (2003) · Laboratory Investigation · doi:10.1097/01.lab.0000087591.29639.e3 · Cited by 73
Mutations in the GAP-related domain impair the ability of neurofibromin to associate with microtubules
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Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts
Dunnett-Kane, V., Burkitt-Wright, E., Blackhall, F. H., Malliri, A., Evans, D. G., & Lindsay, C. R. (2020) · Annals of Oncology · doi:10.1016/j.annonc.2020.03.291 · Cited by 66
“NF1 is a large gene found on chromosome 17, containing 61 exons and coding for a 2818 amino acid protein (of which only w330 code for the GAP domain).(20,69) The protein is ubiquitously expressed but found in its highest levels in the CNS.”
Background
Signal transduction in early heart development (II): ventricular chamber specification, trabeculation, and heart valve formation.
Wagner, M. A., & Siddiqui, M. A. Q. (2007) · PubMed · Cited by 70
Syndromic and sporadic pediatric optic pathway gliomas: review of clinical and histopathological differences and treatment implications
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Mouse Models of Neurofibromatosis 1 and 2
Gutmann, D. H., & Giovannini, M. (2002) · Neoplasia · doi:10.1038/sj.neo.7900249 · Cited by 72
Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene
Upadhyaya, M., Shaw, D. J., & Harper, P. S. (1994) · Human Mutation · doi:10.1002/humu.1380040202 · Cited by 72
Signal transduction in early heart development (I): cardiogenic induction and heart tube formation.
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The Kelch Proteins Gpb1 and Gpb2 Inhibit Ras Activity via Association with the Yeast RasGAP Neurofibromin Homologs Ira1 and Ira2
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Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations
Serra, E., Ars, E., Ravella, A., nchez, A. S. X. E., Puig, S., Rosenbaum, T., Estivill, X., & zaro, C. L. X. E. (2001) · Human Genetics · doi:10.1007/s004390100514 · Cited by 71
“Blood DNA was extracted following the standard “salting-out” procedure (Miller et al. 1988), and neurofibroma DNA was obtained as described previously ( Wu et al. 1995; Serra et al. 1997).”
Method
Different mutations in theNF1gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)
Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M. M., Ragge, N., Patton, M. A., Winter, R. M., & ffrench‐Constant, C. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20023 · Cited by 71
“A central region of about 260 amino acids shows significant homology to the mammalian GTPase-activating protein (GAP) [Xu et al., 1990].”
Background
A search for evidence of somatic mutations in theNF1 gene
John, A. M., Ruggieri, M., Ferner, R., & Upadhyaya, M. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.44 · Cited by 71
Ras Activation in Astrocytomas and Neurofibromas
Guha, A. (1998) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100034272 · Cited by 71
Toxic Effects of Griseofulvin: Disease Models, Mechanisms, and Risk Assessment
Knasmüller, S., Parzefall, W., Helma, C., Kassie, F., Ecker, S., & Schulte‐Hermann, R. (1997) · Critical Reviews in Toxicology · doi:10.3109/10408449709078444 · Cited by 70

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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