Nf1 neurofibromin 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 24592, updated on 14-Nov-2024

Summary

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Official Symbol: Nf1provided by RGD
Official Full Name: neurofibromin 1provided by RGD
Primary source: RGD:3168
See related: EnsemblRapid:ENSRNOG00000013780 AllianceGenome:RGD:3168
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables microtubule binding activity and syndecan binding activity. Involved in several processes, including Schwann cell differentiation; cellular response to dexamethasone stimulus; and regulation of modification of postsynaptic structure. Located in several cellular components, including axon; dendrite; and nucleus. Part of protein-containing complex. Is active in glutamatergic synapse. Biomarker of sciatic neuropathy and transient cerebral ischemia. 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, Nov 2024]
Expression: Biased expression in Brain (RPKM 240.4), Adrenal (RPKM 189.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

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See Nf1 in Genome Data Viewer

Location:: 10q25

Exon count:: 60

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (64803986..65037086)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (64306027..64539112)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (66732460..66928706)

Chromosome 10 - NC_086028.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NF1 deficiency drives metabolic reprogramming in ER+ breast cancer.
Title: NF1 deficiency drives metabolic reprogramming in ER+ breast cancer.
Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation.
Title: Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation.
The neurofibromatosis type I gene promotes autophagy via mTORC1 signalling pathway to enhance new bone formation after fracture.
Title: The neurofibromatosis type I gene promotes autophagy via mTORC1 signalling pathway to enhance new bone formation after fracture.
NF1 promoted seizure attacks in rats with pilocarpine-induced epilepsy.
Title: Neurofibromin Regulates Seizure Attacks in the Rat Pilocarpine-Induced Model of Epilepsy.
Ras inactivation by neurofibromin is required for sustained spine enlargement associated with long term potentiation (LTP) and maintenance of spine density.
Title: Neurofibromin is the major ras inactivator in dendritic spines.
Immunoprecipitation from rat brain shows that neurofibromin forms a complex with VCP and p47. The LRD domain is required.
Title: Valosin-containing protein and neurofibromin interact to regulate dendritic spine density.
association of neurofibromin and CRMP-2 is essential for neuronal cell differentiation
Title: Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2.
Loss of NF1 function may therefore lead to dysplastic bone growth, thereby causing the debilitating osseous symptoms of NF1
Title: NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BI302108 (e-PCR)
- UniSTS:247562

RH142717 (e-PCR)
- UniSTS:231964

RH142205 (e-PCR)
- UniSTS:231455

AW491894 (e-PCR)
- UniSTS:180267

AA848827 (e-PCR)
- UniSTS:250218

RH136900 (e-PCR)
- UniSTS:218989

RH131618 (e-PCR)
- UniSTS:214901

D10Mco72 (e-PCR)
- UniSTS:240251

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

RH94434 (e-PCR)
- UniSTS:119682

RH139234 (e-PCR)
- UniSTS:221320

BF391060 (e-PCR)
- UniSTS:249738

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

RH136954 (e-PCR)
- UniSTS:219043

RH143395 (e-PCR)
- UniSTS:232642

BI279325 (e-PCR)
- UniSTS:244933

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

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

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

D10Got80 (e-PCR)
- UniSTS:111610

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables GTPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
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	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neurofibromin

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

NCBI Reference Sequences (RefSeq)

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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_012609.1 → NP_036741.1 neurofibromin

See identical proteins and their annotated locations for NP_036741.1

Status: PROVISIONAL

Source sequence(s)

D45201

UniProtKB/Swiss-Prot

P97526

UniProtKB/TrEMBL

F1LM28

Related

ENSRNOP00000050393.4, ENSRNOT00000046262.6

Conserved Domains (4) summary

cd05130
Location:1200 → 1532

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

smart00323
Location:1189 → 1538

RasGAP; GTPase-activator protein for Ras-like GTPases

cd13313
Location:1709 → 1818

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1583 → 1709

CRAL_TRIO_2; Divergent CRAL/TRIO domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

64803986..65037086

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063268411.1 → XP_063124481.1 neurofibromin isoform X3
XM_039085200.2 → XP_038941128.1 neurofibromin isoform X1

UniProtKB/TrEMBL

F1LM28

Related

ENSRNOP00000069925.3, ENSRNOT00000089538.3

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_039085201.2 → XP_038941129.1 neurofibromin isoform X2

UniProtKB/TrEMBL

A0A0G2JWL3, F1LM28

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