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Nf1 neurofibromin 1 [ Mus musculus (house mouse) ]

Gene ID: 18015, updated on 17-Dec-2024

Summary

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Official Symbol: Nf1provided by MGI
Official Full Name: neurofibromin 1provided by MGI
Primary source: MGI:MGI:97306
See related: Ensembl:ENSMUSG00000020716 AllianceGenome:MGI:97306
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dsk9; Nf-1; Mhdadsk9; E030030H24Rik
Summary: Enables GTPase activator activity. Involved in negative regulation of fibroblast proliferation and regulation of postsynapse organization. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; negative regulation of cell development; and nervous system development. Located in cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and integumental system. Used to study juvenile myelomonocytic leukemia; malignant peripheral nerve sheath tumor; and neurofibromatosis 1. Human ortholog(s) of this gene implicated in several diseases, including Watson syndrome; autistic disorder; hematologic cancer (multiple); neurofibromatosis 1 (multiple); and peripheral nervous system neoplasm (multiple). Orthologous to human NF1 (neurofibromin 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 6.5), whole brain E14.5 (RPKM 6.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

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See Nf1 in Genome Data Viewer

Location:: 11 B5; 11 46.74 cM

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (79223541..79472435)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (79339590..79581609)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice.
Title: Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice.
NF1 mutation-driven neuronal hyperexcitability sets a threshold for tumorigenesis and therapeutic targeting of murine optic glioma.
Title: NF1 mutation-driven neuronal hyperexcitability sets a threshold for tumorigenesis and therapeutic targeting of murine optic glioma.
The Nf1-Q181X point mutation induces M2 macrophage polarization via the AKT/STAT pathway to promote smooth muscle cell proliferation and migration.
Title: The Nf1-Q181X point mutation induces M2 macrophage polarization via the AKT/STAT pathway to promote smooth muscle cell proliferation and migration.
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Title: MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression.
Title: Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression.
Neurofibromin 1 controls metabolic balance and Notch-dependent quiescence of murine juvenile myogenic progenitors.
Title: Neurofibromin 1 controls metabolic balance and Notch-dependent quiescence of murine juvenile myogenic progenitors.
Neuroprotective role of FOXA1 in Parkinson's disease: Involvements of NF1 transcription activation and MAPK signaling pathway inhibition.
Title: Neuroprotective role of FOXA1 in Parkinson's disease: Involvements of NF1 transcription activation and MAPK signaling pathway inhibition.
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia.
Title: Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia.
The Q181X Point Mutation in Nf1 Induces Cerebral Vessel Stenosis.
Title: The Q181X Point Mutation in Nf1 Induces Cerebral Vessel Stenosis.
Neurobehavioral sex-related differences in Nf1[+/-] mice: female show a "camouflaging"-type behavior.
Title: Neurobehavioral sex-related differences in Nf1(+/-) mice: female show a "camouflaging"-type behavior.

Submit: New GeneRIF Correction See all GeneRIFs (169)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (9) 1 citation
Targeted (14) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:606231 (e-PCR)
- UniSTS:158217

GDB:606264 (e-PCR)
- UniSTS:158221

D11Bhm165 (e-PCR), detects polymorphism
- UniSTS:141603

D11Bhm166 (e-PCR), detects polymorphism
- UniSTS:141604

D11Bhm167 (e-PCR), detects polymorphism
- UniSTS:141605

AU040972 (e-PCR)
- UniSTS:180266

AW491894 (e-PCR)
- UniSTS:180267

AW494271 (e-PCR)
- UniSTS:180268

Nf1 (e-PCR), detects polymorphism
- UniSTS:516408

NoName (e-PCR)
- UniSTS:236652

Nf1 (e-PCR), detects polymorphism
- UniSTS:144000

AU040954 (e-PCR)
- UniSTS:160130

Nf1 (e-PCR), detects polymorphism
- UniSTS:461980

Nf1 (e-PCR), detects polymorphism
- UniSTS:527046

PMC55792P1 (e-PCR)
- UniSTS:273352

D11Bhm104 (e-PCR), detects polymorphism
- UniSTS:141539

D11Bhm105 (e-PCR), detects polymorphism
- UniSTS:141540

D11Bhm106 (e-PCR), detects polymorphism
- UniSTS:141541

D11Bhm107 (e-PCR), detects polymorphism
- UniSTS:141542

Omg (e-PCR), detects polymorphism
- UniSTS:495849

GDB:603686 (e-PCR)
- UniSTS:158192

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IGI Inferred from Genetic Interaction more info	PubMed
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylethanolamine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylethanolamine binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syndecan binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of Rac protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of Ras protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Ras protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of Ras protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within Ras protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within Schwann cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of Schwann cell migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of Schwann cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of Schwann cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of Schwann cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adrenal gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within amygdala development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell communication	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cognition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of endothelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of extrinsic apoptotic signaling pathway in absence of ligand	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain astrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid secretion, neurotransmission	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of glial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of glial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutamate secretion, neurotransmission	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hair follicle maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of leukocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within long-term synaptic potentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within long-term synaptic potentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mast cell apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of mast cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of myeloid cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of myeloid leukocyte migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of MAP kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of MAP kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of Rac protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of Ras protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of Ras protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of Schwann cell migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of Schwann cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of Schwann cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of Schwann cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell-matrix adhesion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of glial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of glial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of leukocyte migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of mast cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neurotransmitter secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of oligodendrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of osteoclast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of vascular associated smooth muscle cell migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neural tube development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neurotransmitter secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within observational learning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of oligodendrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of osteoclast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within peripheral nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of adenylate cyclase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of endothelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of leukocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of mast cell apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of myeloid cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of vascular associated smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in postsynaptic signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ERK1 and ERK2 cascade	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of MAPK cascade	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood vessel endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood vessel endothelial cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of glial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of long-term neuronal synaptic plasticity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of long-term neuronal synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of long-term synaptic potentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of modification of postsynaptic structure	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of synaptic transmission, GABAergic	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smooth muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sympathetic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of vascular associated smooth muscle cell migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of vascular associated smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within visual learning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within wound healing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: neurofibromin

Names: neurofibromatosis 1; neurofibromatosis-related protein NF-1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010897.2 → NP_035027.1 neurofibromin

See identical proteins and their annotated locations for NP_035027.1

Status: VALIDATED

Source sequence(s)

AL591126, AL591174

Consensus CDS

CCDS25119.1

UniProtKB/Swiss-Prot

Q04690, Q61956, Q61957

Related

ENSMUSP00000071289.3, ENSMUST00000071325.9

Conserved Domains (4) summary

cd05130
Location:1200 → 1553

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

smart00323
Location:1189 → 1559

RasGAP; GTPase-activator protein for Ras-like GTPases

cd13313
Location:1730 → 1839

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1604 → 1730

CRAL_TRIO_2; Divergent CRAL/TRIO domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

79223541..79472435

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532436.5 → XP_006532499.1 neurofibromin isoform X1

Conserved Domains (3) summary

cd05130
Location:1210 → 1563

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1740 → 1849

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1614 → 1748

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_006532442.5 → XP_006532505.1 neurofibromin isoform X9

Conserved Domains (3) summary

cd05130
Location:1210 → 1563

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1740 → 1849

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1614 → 1748

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_006532438.5 → XP_006532501.1 neurofibromin isoform X3

Conserved Domains (3) summary

cd05130
Location:1210 → 1563

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1740 → 1849

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1614 → 1748

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_006532440.5 → XP_006532503.1 neurofibromin isoform X6

Conserved Domains (3) summary

cd05130
Location:1210 → 1542

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1719 → 1828

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1593 → 1727

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_006532437.5 → XP_006532500.1 neurofibromin isoform X2

Conserved Domains (3) summary

cd05130
Location:1209 → 1562

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1739 → 1848

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1613 → 1747

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_006532439.5 → XP_006532502.1 neurofibromin isoform X4

Conserved Domains (3) summary

cd05130
Location:1200 → 1553

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1730 → 1839

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1604 → 1738

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_036156400.1 → XP_036012293.1 neurofibromin isoform X7

Conserved Domains (3) summary

cd05130
Location:1200 → 1532

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1709 → 1818

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1583 → 1717

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_030245644.2 → XP_030101504.1 neurofibromin isoform X5

Conserved Domains (3) summary

cd05130
Location:1199 → 1552

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1729 → 1838

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1603 → 1737

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_006532441.5 → XP_006532504.1 neurofibromin isoform X8

UniProtKB/Swiss-Prot

Q04690

Related

ENSMUSP00000103886.3, ENSMUST00000108251.9

Conserved Domains (3) summary

cd05130
Location:1200 → 1532

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1709 → 1818

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1583 → 1717

CRAL_TRIO_2; Divergent CRAL/TRIO domain