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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“…shares homology with the yeast proteins Ira1 and Ira2, which are inhibitory regulators of the RAS-cAMP adenylyl cyclase pathway, but no evidence shows a direct role for NF1 or IRA proteins in direct regulation of cAMP in mammals ( Ballester et al., 1990 ; Martin et al., 1990 ; Xu et al., 1990 ).”

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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