Nf1 (neurofibromin 1) - Rat Genome Database

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Gene: Nf1 (neurofibromin 1) Rattus norvegicus
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Symbol: Nf1
Name: neurofibromin 1
RGD ID: 3168
Description: Enables GTPase activator activity; 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); PARTICIPATES IN forkhead class A signaling pathway; syndecan signaling pathway; mitogen activated protein kinase signaling pathway; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: neurofibromatosis 1; Neurofibromatosis type 1; neurofibromatosis-related protein NF-1; neurofibromin
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81064,803,986 - 65,037,086 (+)NCBIGRCr8
mRatBN7.21064,306,027 - 64,539,112 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1064,306,301 - 64,536,658 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1068,933,130 - 69,162,873 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01068,438,497 - 68,668,253 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01063,907,885 - 64,137,796 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01066,732,460 - 66,928,706 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1066,690,133 - 66,928,903 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01064,826,693 - 64,916,699 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01064,719,521 - 64,758,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41065,574,833 - 65,766,305 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11065,545,464 - 65,779,928 (+)NCBI
Celera1063,277,856 - 63,507,181 (+)NCBICelera
Cytogenetic Map10q25NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute monocytic leukemia  (ISO)
acute myeloid leukemia  (ISO)
adenoma  (ISO)
Aortic Coarctation  (ISO)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
B-cell acute lymphoblastic leukemia  (ISO)
Bardet-Biedl syndrome 9  (ISO)
Brain Neoplasms  (ISO)
Cafe au lait Spots, Multiple  (ISO)
Cafe-au-Lait Spots  (ISO)
centronuclear myopathy 5  (ISO)
cerebral palsy  (ISO)
colon cancer  (ISO)
colorectal carcinoma  (ISO)
craniopharyngioma  (ISO)
Developmental Disabilities  (ISO)
diffuse intrinsic pontine glioma  (ISO)
diffuse large B-cell lymphoma  (ISO)
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype  (ISO)
Ewing sarcoma  (ISO)
Febrile Seizures  (ISO)
Femoral Fractures  (ISO)
fetal akinesia deformation sequence syndrome 1  (ISO)
fibrosarcoma  (ISO)
genetic disease  (ISO)
glioblastoma  (ISO)
hereditary breast ovarian cancer syndrome  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
high grade glioma  (ISO)
IDH-mutant anaplastic astrocytoma  (ISO)
inguinal hernia  (ISO)
intellectual disability  (ISO)
Islet Cell Tumor Syndrome  (ISO)
juvenile myelomonocytic leukemia  (ISO,ISS)
keratoconus  (ISO)
learning disability  (ISO)
liposarcoma  (ISO)
lung non-small cell carcinoma  (ISO)
malignant astrocytoma  (ISO)
melanoma  (ISO)
microcephaly  (ISO)
multiple myeloma  (ISO)
myeloproliferative neoplasm  (ISO)
Nerve Sheath Neoplasms  (ISO)
neurilemmoma  (ISO)
neurofibroma  (ISO)
neurofibroma of spinal cord  (ISO)
neurofibromatosis  (ISO)
neurofibromatosis 1  (ISO,ISS)
neurofibromatosis-Noonan syndrome  (ISO)
optic nerve glioma  (ISO)
ovarian cancer  (ISO)
pheochromocytoma  (ISO)
Pigmented Nevus  (ISO)
pilocytic astrocytoma  (ISO)
plexiform neurofibroma  (ISO)
Pseudarthrosis  (IEP)
RASopathy  (ISO)
Retinal Neovascularization  (ISO)
retinoblastoma  (ISO)
rhabdomyosarcoma  (ISO)
sarcoma  (ISO)
sciatic neuropathy  (IEP)
spermatogenic failure 57  (ISO)
spinal neurofibromatosis  (ISO)
stomach cancer  (ISO)
strabismus  (ISO)
transient cerebral ischemia  (IEP)
urinary bladder cancer  (ISO)
Urinary Bladder Neoplasm  (ISO)
Wallerian Degeneration  (IEP)
Watson syndrome  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(S)-naringenin  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (EXP)
2,4,6-tribromophenol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-Nitrobenzanthrone  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (EXP)
afimoxifene  (ISO)
all-trans-retinoic acid  (ISO)
androgen antagonist  (EXP)
antirheumatic drug  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
aspartame  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (ISO)
Butylparaben  (EXP)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
CGP 52608  (ISO)
chlordecone  (ISO)
choline  (ISO)
cobalt dichloride  (ISO)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
dibutyl phthalate  (EXP)
dioxygen  (ISO)
disodium selenite  (ISO)
dorsomorphin  (ISO)
entinostat  (ISO)
enzacamene  (EXP)
epoxiconazole  (EXP)
fluoxetine  (ISO)
folic acid  (ISO)
fulvestrant  (ISO)
gallic acid  (ISO)
geldanamycin  (ISO)
hexadecanoic acid  (ISO)
hydralazine  (ISO)
ivermectin  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
linsidomine  (EXP)
linuron  (EXP)
mercury dibromide  (ISO)
methoxychlor  (EXP)
methylmercury chloride  (ISO)
methylmercury(1+)  (ISO)
monosodium L-glutamate  (ISO)
motexafin gadolinium  (ISO)
nickel atom  (ISO)
ochratoxin A  (ISO)
oxybenzone  (ISO)
p-chloromercuribenzoic acid  (ISO)
panobinostat  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
PD 0325901  (ISO)
phenylmercury acetate  (ISO)
potassium chromate  (ISO)
prochloraz  (EXP)
procymidone  (EXP)
quercetin  (ISO)
raloxifene  (ISO)
SB 431542  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
thimerosal  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (ISO)
vinclozolin  (EXP)
vorinostat  (ISO)
zinc acetate  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Cellular Component
axon  (IDA,ISO)
cytoplasm  (IDA,IEA,ISO)
dendrite  (IDA,ISO)
glutamatergic synapse  (EXP,IDA,IEA,IMP,ISO)
membrane  (IEA)
nucleolus  (IEA)
nucleoplasm  (ISO)
nucleus  (IDA,IEA)
plasma membrane  (IEA,ISO)
presynapse  (IEA)
protein-containing complex  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Basu TN, etal., Nature 1992 Apr 23;356(6371):713-5.
2. Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. Bianchessi D, etal., Genes (Basel). 2020 Jun 19;11(6). pii: genes11060671. doi: 10.3390/genes11060671.
3. Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia. Boudry-Labis E, etal., Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5.
4. NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer. Cacev T, etal., Gut. 2005 Aug;54(8):1129-35. doi: 10.1136/gut.2004.053348. Epub 2005 Apr 19.
5. Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Costa RM, etal., Nat Genet 2001 Apr;27(4):399-405.
6. The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Daston MM, etal., Neuron. 1992 Mar;8(3):415-28.
7. Neurofibromin Expression is Associated with Aggressive Disease and Poor Outcome in Colorectal Carcinoma. Elzagheid A, etal., Anticancer Res. 2016 Oct;36(10):5301-5306. doi: 10.21873/anticanres.11102.
8. Increased expression of the neurofibromatosis 1 (NF1) gene product, neurofibromin, in astrocytes in response to cerebral ischemia. Giordano MJ, etal., J Neurosci Res. 1996 Jan 15;43(2):246-53.
9. Nf1 has an essential role in endothelial cells. Gitler AD, etal., Nat Genet 2003 Jan;33(1):75-9.
10. PACAP and VIP affect NF1 expression in rat malignant peripheral nerve sheath tumor (MPNST) cells. Giunta S, etal., Neuropeptides. 2010 Feb;44(1):45-51.
11. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
12. Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation. Gutmann DH, etal., J Neurosci Res. 1993 Oct 1;36(2):216-23.
13. Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas. Gutmann DH, etal., Neuropathol Appl Neurobiol. 2000 Aug;26(4):361-7.
14. Expression of the neurofibromatosis type 1 (NF1) gene during mouse embryonic development. Gutmann DH, etal., Prog Brain Res. 1995;105:327-35.
15. Integrated proteomics identified novel activation of dynein IC2-GR-COX-1 signaling in neurofibromatosis type I (NF1) disease model cells. Hirayama M, etal., Mol Cell Proteomics. 2013 May;12(5):1377-94. doi: 10.1074/mcp.M112.024802. Epub 2013 Jan 28.
16. Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans. Hsueh YP, etal., J Neurosci. 2001 Jun 1;21(11):3764-70.
17. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
18. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Li Y, etal., Cell 1992 Apr 17;69(2):275-81.
19. Neurofibromin interacts with CRMP-2 and CRMP-4 in rat brain. Lin YL and Hsueh YP, Biochem Biophys Res Commun. 2008 May 2;369(2):747-52. Epub 2008 Feb 29.
20. The prognostic significance of bone marrow levels of neurofibromatosis-1 protein and ras oncogene mutations in patients with acute myeloid leukemia and myelodysplastic syndrome. Lu D, etal., Cancer. 2003 Jan 15;97(2):441-9.
21. Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. Marui T, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Nov 15;131B(1):43-7.
22. NF1 mRNA isoform expression in PC12 cells: modulation by extrinsic factors. Metheny LJ and Skuse GR, Exp Cell Res. 1996 Oct 10;228(1):44-9.
23. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
24. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
25. Neurofibromin is the major ras inactivator in dendritic spines. Oliveira AF and Yasuda R, J Neurosci. 2014 Jan 15;34(3):776-83. doi: 10.1523/JNEUROSCI.3096-13.2014.
26. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
27. Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2. Patrakitkomjorn S, etal., J Biol Chem. 2008 Apr 4;283(14):9399-413. Epub 2008 Jan 23.
28. Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line. Perrin GQ, etal., J Neurosci Res. 2007 May 1;85(6):1347-57. doi: 10.1002/jnr.21226.
29. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
30. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
31. LncRNA H19 serves as a ceRNA and participates in non-small cell lung cancer development by regulating microRNA-107. Qian B, etal., Eur Rev Med Pharmacol Sci. 2018 Sep;22(18):5946-5953. doi: 10.26355/eurrev_201809_15925.
32. Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Reilly KM, etal., Nat Genet 2000 Sep;26(1):109-13.
33. GOA pipeline RGD automated data pipeline
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. Sharif S, etal., J Med Genet. 2011 Apr;48(4):256-60. doi: 10.1136/jmg.2010.081760. Epub 2011 Jan 28.
37. Differential tissue-specific expression of neurofibromin isoform mRNAs in rat. Suzuki H, etal., J Biochem (Tokyo) 1996 Nov;120(5):1048-54.
38. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
39. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. Venturin M, etal., Ann Hum Genet. 2005 Sep;69(Pt 5):508-16.
40. Clinicopathologic implications of NF1 gene alterations in diffuse gliomas. Vizcaíno MA, etal., Hum Pathol. 2015 Sep;46(9):1323-30. doi: 10.1016/j.humpath.2015.05.014. Epub 2015 May 30.
41. Mouse tumor model for neurofibromatosis type 1. Vogel KS, etal., Science 1999 Dec 10;286(5447):2176-9.
42. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Wallace MR, etal., Science. 1990 Jul 13;249(4965):181-6.
43. Regulation of neurofibromin expression in rat sciatic nerve and cultured Schwann cells. Wrabetz L, etal., Glia. 1995 Sep;15(1):22-32.
44. The neurofibromatosis type 1 gene encodes a protein related to GAP. Xu GF, etal., Cell 1990 Aug 10;62(3):599-608.
Additional References at PubMed
PMID:2121371   PMID:7671302   PMID:7920653   PMID:7926784   PMID:8563750   PMID:9001241   PMID:9054942   PMID:9878702   PMID:10383727   PMID:10419687   PMID:10442636   PMID:10498620  
PMID:10586246   PMID:10591652   PMID:10594763   PMID:10620616   PMID:10678181   PMID:10844550   PMID:10845775   PMID:11246230   PMID:11297510   PMID:11401406   PMID:11435472   PMID:11788835  
PMID:11793011   PMID:12409258   PMID:12904481   PMID:14724565   PMID:14741381   PMID:14982883   PMID:15039234   PMID:15125795   PMID:15133494   PMID:15665300   PMID:15944386   PMID:16271875  
PMID:16288202   PMID:16298082   PMID:16405917   PMID:16644864   PMID:16648142   PMID:16835260   PMID:16893911   PMID:16906226   PMID:17053831   PMID:17187824   PMID:17299016   PMID:17404841  
PMID:19946888   PMID:20154697   PMID:20661302   PMID:21584524   PMID:22105171   PMID:25242307   PMID:25340873   PMID:25931508   PMID:26537900   PMID:32862562   PMID:33574490   PMID:38216123  


Genomics

Comparative Map Data
Nf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81064,803,986 - 65,037,086 (+)NCBIGRCr8
mRatBN7.21064,306,027 - 64,539,112 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1064,306,301 - 64,536,658 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1068,933,130 - 69,162,873 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01068,438,497 - 68,668,253 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01063,907,885 - 64,137,796 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01066,732,460 - 66,928,706 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1066,690,133 - 66,928,903 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01064,826,693 - 64,916,699 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01064,719,521 - 64,758,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41065,574,833 - 65,766,305 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11065,545,464 - 65,779,928 (+)NCBI
Celera1063,277,856 - 63,507,181 (+)NCBICelera
Cytogenetic Map10q25NCBI
NF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381731,094,927 - 31,377,677 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1731,094,927 - 31,382,116 (+)EnsemblGRCh38hg38GRCh38
GRCh371729,421,945 - 29,704,695 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361726,446,121 - 26,728,821 (+)NCBINCBI36Build 36hg18NCBI36
Build 341726,446,242 - 26,725,590NCBI
Celera1726,342,778 - 26,625,011 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1725,632,559 - 25,915,183 (+)NCBIHuRef
CHM1_11729,485,166 - 29,767,533 (+)NCBICHM1_1
T2T-CHM13v2.01732,040,661 - 32,323,039 (+)NCBIT2T-CHM13v2.0
Nf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391179,223,541 - 79,472,435 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1179,230,519 - 79,472,438 (+)EnsemblGRCm39 Ensembl
GRCm381179,339,590 - 79,581,609 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1179,339,693 - 79,581,612 (+)EnsemblGRCm38mm10GRCm38
MGSCv371179,153,394 - 79,395,111 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361179,156,087 - 79,397,804 (+)NCBIMGSCv36mm8
Celera1189,016,599 - 89,214,295 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Nf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554816,145,855 - 6,404,179 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554816,145,855 - 6,404,179 (+)NCBIChiLan1.0ChiLan1.0
NF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21933,107,932 - 33,386,684 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11734,986,857 - 35,265,533 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01725,425,081 - 25,703,689 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11726,160,857 - 26,439,295 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1726,160,855 - 26,439,295 (-)Ensemblpanpan1.1panPan2
NF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1941,467,460 - 41,679,388 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl941,469,416 - 41,679,382 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha940,629,334 - 40,903,263 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0942,288,289 - 42,562,339 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl942,289,794 - 42,562,612 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1941,071,709 - 41,345,537 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0941,366,542 - 41,640,551 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0941,442,649 - 41,716,759 (-)NCBIUU_Cfam_GSD_1.0
Nf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560240,516,678 - 40,718,544 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365383,398,222 - 3,595,261 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365383,394,623 - 3,596,025 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1243,489,813 - 43,753,969 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11243,487,098 - 43,754,205 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21245,314,405 - 45,511,909 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11624,550,983 - 24,836,311 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1624,550,977 - 24,836,307 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660755,239,619 - 5,527,625 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248753,636,924 - 3,956,576 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248753,636,762 - 3,959,991 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Nf1
788 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:277
Count of miRNA genes:171
Interacting mature miRNAs:199
Transcripts:ENSRNOT00000046262
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1549846Scl47Serum cholesterol level QTL 473.6blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)105057470795574707Rat
152025229Scl83Serum cholesterol level QTL 834.33blood cholesterol amount (VT:0000180)103571058068663659Rat
1578779Tcas10Tongue tumor susceptibility QTL 103.12tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)103129743976297439Rat
152025227Bw195Body weight QTL 1955.73body mass (VT:0001259)104698969968663659Rat
1298069Bp168Blood pressure QTL 1685.5blood pressure trait (VT:0000183)systolic blood pressure (CMO:0000004)102652195798003205Rat
2293669Bmd33Bone mineral density QTL 334.50.0001femur strength trait (VT:0010010)femoral neck polar moment of inertia (CMO:0001670)104944455181709989Rat
152025224Bw193Body weight QTL 1936.47body mass (VT:0001259)105166340575085664Rat
631552Vetf2Vascular elastic tissue fragility QTL 24.50.0002aorta elastic tissue integrity trait (VT:0010556)artery internal elastic lamina non-tumorous lesion count (CMO:0001913)104114263386142633Rat
61449Ciaa2CIA Autoantibody QTL 27.1blood autoantibody amount (VT:0003725)calculated serum anti-type 2 collagen antibody titer (CMO:0001279)1063221094107211142Rat
631557Bp136Blood pressure QTL 1360.003arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)103063205375632053Rat
61325Aia5Adjuvant induced arthritis QTL 50.01joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023444813104060283Rat
1298078Stresp5Stress response QTL 52.990.00025blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1042045676104670812Rat
2293679Bmd30Bone mineral density QTL 303.50.0001femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)104944455181709989Rat
1549831Bss6Bone structure and strength QTL 64lumbar vertebra strength trait (VT:0010574)vertebra ultimate force (CMO:0001678)1057576521102576521Rat
70164Bw21Body weight QTL 214.360.00005body mass (VT:0001259)body weight (CMO:0000012)105379749498952626Rat
61463Bp12Blood pressure QTL 126.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)104133325886333258Rat
8694173Bw149Body weight QTL 1494.380.001body mass (VT:0001259)body weight gain (CMO:0000420)104444169989441699Rat
2300218Hpcl2Hepatic cholesterol level QTL 2liver cholesterol amount (VT:0010498)liver cholesterol level (CMO:0001597)104502965095600334Rat
1554317Bmd4Bone mineral density QTL 49.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)101981604299406971Rat
70171Cari1Carrageenan-induced inflammation QTL 14.90.0005hypodermis integrity trait (VT:0010550)inflammatory exudate volume (CMO:0001429)1053797385107211142Rat
724527Bp148Blood pressure QTL 1480.0001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)102845313673453136Rat
2300171Bmd58Bone mineral density QTL 584.90.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)102694462871944628Rat
61354Pia10Pristane induced arthritis QTL 100.01joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023444813104060283Rat
2301967Cm73Cardiac mass QTL 734.55heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)101448701189062041Rat
2313103Bss80Bone structure and strength QTL 8020.0001tibia strength trait (VT:1000284)tibia midshaft endosteal cross-sectional area (CMO:0001716)1062057807107057807Rat
2303118Mamtr7Mammary tumor resistance QTL 70.003mammary gland integrity trait (VT:0010552)mammary tumor growth rate (CMO:0000344)109658275104670812Rat
70188BpQTLcluster1Blood pressure QTL cluster 14.864arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)14232313287323132Rat
2313105Bss79Bone structure and strength QTL 791.80.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)1062057807107057807Rat
9589030Epfw9Epididymal fat weight QTL 919.240.001epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)104444169989441699Rat
10402859Bp381Blood pressure QTL 3810.002arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)102760646872606468Rat
2316949Gluco60Glucose level QTL 603.7blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1014487011107057807Rat
2293652Bmd22Bone mineral density QTL 224.90.0001femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)104944455181709989Rat
70198BpQTLcluster9Blood pressure QTL cluster 92.94arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)104232313287323132Rat
2306970Anxrr22Anxiety related response QTL 225.95fear/anxiety-related behavior trait (VT:1000241)number of periods of voluntary immobility (CMO:0001045)106134527698211570Rat
1359017Hrtrt21Heart rate QTL 212.4heart pumping trait (VT:2000009)heart rate (CMO:0000002)105177294096772940Rat
2306787Ean3Experimental allergic neuritis QTL 33.1nervous system integrity trait (VT:0010566)body weight loss (CMO:0001399)105379738566979128Rat
2312672Insul15Insulin level QTL 150.01blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1057134272102134272Rat
724556Pur2Proteinuria QTL 25.5urine protein amount (VT:0005160)urine protein level (CMO:0000591)102242750090627625Rat
8662860Vetf10Vascular elastic tissue fragility QTL 10artery integrity trait (VT:0010639)number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries (CMO:0002562)10615418273453136Rat
61387Bp1Blood pressure QTL 15.1arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1051770177107211142Rat
70223Bp57Blood pressure QTL 575arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)10180676123Rat
2317043Aia7Adjuvant induced arthritis QTL 73.82joint integrity trait (VT:0010548)left rear ankle joint diameter (CMO:0002149)103756507982565079Rat
2317042Aia20Adjuvant induced arthritis QTL 203.38joint integrity trait (VT:0010548)right rear ankle joint diameter (CMO:0002150)103756507982565079Rat
70363Bp71Blood pressure QTL 710.04arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)106134527681714865Rat
61402Niddm3Non-insulin dependent diabetes mellitus QTL 34.58blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)106134541382564856Rat
1331791Cm31Cardiac mass QTL 313.84606heart mass (VT:0007028)heart wet weight (CMO:0000069)1029299504107211142Rat
2313087Bmd80Bone mineral density QTL 803.20.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)101960648364606483Rat
70364Bp72Blood pressure QTL 72arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)105112110096121100Rat
2293698Bss43Bone structure and strength QTL 435.330.0001lumbar vertebra size trait (VT:0010518)lumbar vertebra cross-sectional area (CMO:0001689)1059209888104209888Rat
631530Tls3T-lymphoma susceptibility QTL 300.0001thymus integrity trait (VT:0010555)percentage of study population developing T-cell lymphomas during a period of time (CMO:0001911)105177461295600334Rat
1354608Cm33Cardiac mass QTL 332.8heart left ventricle mass (VT:0007031)heart left ventricle wet weight (CMO:0000071)105480929299809292Rat
1558643Cm44Cardiac mass QTL 444.80.0000368heart mass (VT:0007028)heart wet weight (CMO:0000069)106134527699703528Rat
631535Cm51Cardiac mass QTL 513heart mass (VT:0007028)calculated heart weight (CMO:0000073)105178628291669536Rat
1576319Cia29Collagen induced arthritis QTL 29joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)103397392178973921Rat
8552805Bw145Body weight QTL 1452.2body mass (VT:0001259)change in body weight to body weight ratio (CMO:0002216)104194452678307017Rat
631267Cia20Collagen induced arthritis QTL 203.2joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023444813104060283Rat
2293705Bmd25Bone mineral density QTL 257.10.0001femur mineral mass (VT:0010011)compact volumetric bone mineral density (CMO:0001730)104944455181709989Rat
1331839Eae18bExperimental allergic encephalomyelitis QTL 18b5.80.03nervous system integrity trait (VT:0010566)experimental autoimmune encephalomyelitis severity score (CMO:0001419)106124830367785171Rat
1576308Schws1Schwannoma susceptibility QTL 10.0041nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)1040035094102359817Rat
631269Cia22Collagen induced arthritis QTL 228.9joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1040035094104060283Rat
631268Cia21Collagen induced arthritis QTL 213.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1014487011104060283Rat
7207811Bmd90Bone mineral density QTL 905.2femur size trait (VT:1000369)femoral neck cross-sectional area (CMO:0001697)104944455181709989Rat
1576311Pia26Pristane induced arthritis QTL 26joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)103122402675632053Rat
631270Cia23Collagen induced arthritis QTL 233.9joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1040035094104060283Rat
7411614Foco18Food consumption QTL 180.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)104444169989441699Rat
631526Bp76Blood pressure QTL 760.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)106134541366743655Rat
6893336Cm75Cardiac mass QTL 750.10.87heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)106134527699703528Rat
631547Bp87Blood pressure QTL 874.5arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)104736947092369470Rat
61427Cia16Collagen induced arthritis QTL 163.2joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)10635789696121100Rat
2312662Slep8Serum leptin concentration QTL 80.05blood leptin amount (VT:0005667)serum leptin level (CMO:0000780)1057134272102134272Rat
6893342Cm78Cardiac mass QTL 780.10.88heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)104287676679813922Rat
2292441Bp308Blood pressure QTL 308arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)102760646872606468Rat
2313055Bw96Body weight QTL 963.60.0001body mass (VT:0001259)body weight (CMO:0000012)101960648364606483Rat
631542Bp82Blood pressure QTL 826.8arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)102652195798952741Rat
2312668Scl65Serum cholesterol level QTL 650.001blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)1057134272102134272Rat

Markers in Region
D10Got80  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr81064,955,889 - 64,956,083 (+)Marker Load Pipeline
mRatBN7.21064,457,923 - 64,458,117 (+)MAPPERmRatBN7.2
Rnor_6.01066,842,228 - 66,842,421NCBIRnor6.0
Rnor_5.01064,806,285 - 64,806,478UniSTSRnor5.0
RGSC_v3.41065,685,322 - 65,685,516RGDRGSC3.4
RGSC_v3.41065,685,323 - 65,685,516UniSTSRGSC3.4
RGSC_v3.11065,698,945 - 65,699,139RGD
Celera1063,428,831 - 63,429,020UniSTS
RH 2.0 Map10616.4RGD
Cytogenetic Map10q25UniSTS
D10Mco72  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr81064,930,734 - 64,930,970 (+)Marker Load Pipeline
mRatBN7.21064,432,767 - 64,433,003 (+)MAPPERmRatBN7.2
Rnor_6.01066,817,079 - 66,817,314NCBIRnor6.0
Rnor_5.01064,831,387 - 64,831,622UniSTSRnor5.0
RGSC_v3.41065,660,188 - 65,660,424RGDRGSC3.4
RGSC_v3.41065,660,189 - 65,660,424UniSTSRGSC3.4
RGSC_v3.11065,673,811 - 65,674,047RGD
Celera1063,403,703 - 63,403,970UniSTS
Cytogenetic Map10q25UniSTS
AW491894  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr81064,984,628 - 64,984,757 (+)Marker Load Pipeline
mRatBN7.21064,486,660 - 64,486,790 (+)MAPPERmRatBN7.2
Rnor_6.01066,870,949 - 66,871,078NCBIRnor6.0
Rnor_5.01064,777,557 - 64,777,686UniSTSRnor5.0
RGSC_v3.41065,714,307 - 65,714,436UniSTSRGSC3.4
Celera1063,457,474 - 63,457,603UniSTS
Cytogenetic Map10q25UniSTS
RH142717  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,473,794 - 64,474,075 (+)MAPPERmRatBN7.2
Rnor_6.01066,858,082 - 66,858,362NCBIRnor6.0
Rnor_5.01064,790,273 - 64,790,553UniSTSRnor5.0
RGSC_v3.41065,701,440 - 65,701,720UniSTSRGSC3.4
Celera1063,444,607 - 63,444,887UniSTS
Cytogenetic Map10q25UniSTS
D11Bhm106  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,404,539 - 64,404,628 (+)MAPPERmRatBN7.2
Rnor_6.01066,788,850 - 66,788,938NCBIRnor6.0
Rnor_5.01064,859,868 - 64,859,956UniSTSRnor5.0
RGSC_v3.41065,631,656 - 65,631,744UniSTSRGSC3.4
Celera1063,375,687 - 63,375,775UniSTS
Cytogenetic Map10q25UniSTS
Nf1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,519,077 - 64,519,218 (+)MAPPERmRatBN7.2
Rnor_6.01066,911,305 - 66,911,445NCBIRnor6.0
Rnor_5.01064,737,385 - 64,737,525UniSTSRnor5.0
RGSC_v3.41065,748,301 - 65,748,441UniSTSRGSC3.4
Celera1063,489,772 - 63,489,912UniSTS
Cytogenetic Map10q25UniSTS
RH131618  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,419,404 - 64,419,596 (+)MAPPERmRatBN7.2
Rnor_6.01066,803,717 - 66,803,908NCBIRnor6.0
Rnor_5.01064,844,793 - 64,844,984UniSTSRnor5.0
RGSC_v3.41065,646,827 - 65,647,018UniSTSRGSC3.4
Celera1063,390,342 - 63,390,533UniSTS
Cytogenetic Map10q25UniSTS
RH142205  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,432,992 - 64,433,152 (+)MAPPERmRatBN7.2
Rnor_6.01066,817,304 - 66,817,463NCBIRnor6.0
Rnor_5.01064,831,238 - 64,831,397UniSTSRnor5.0
RGSC_v3.41065,660,414 - 65,660,573UniSTSRGSC3.4
Celera1063,403,960 - 63,404,119UniSTS
Cytogenetic Map10q25UniSTS
RH143395  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,427,282 - 64,427,411 (+)MAPPERmRatBN7.2
Rnor_6.01066,811,595 - 66,811,723NCBIRnor6.0
Rnor_5.01064,836,978 - 64,837,106UniSTSRnor5.0
RGSC_v3.41065,654,705 - 65,654,833UniSTSRGSC3.4
Celera1063,398,220 - 63,398,348UniSTS
Cytogenetic Map10q25UniSTS
BI279325  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,486,059 - 64,486,265 (+)MAPPERmRatBN7.2
Rnor_6.01066,870,348 - 66,870,553NCBIRnor6.0
Rnor_5.01064,778,082 - 64,778,287UniSTSRnor5.0
RGSC_v3.41065,713,706 - 65,713,911UniSTSRGSC3.4
Celera1063,456,873 - 63,457,078UniSTS
Cytogenetic Map10q25UniSTS
BI302108  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,451,223 - 64,451,392 (+)MAPPERmRatBN7.2
Rnor_6.01066,835,529 - 66,835,697NCBIRnor6.0
Rnor_5.01064,813,009 - 64,813,177UniSTSRnor5.0
RGSC_v3.41065,678,624 - 65,678,792UniSTSRGSC3.4
Celera1063,422,132 - 63,422,300UniSTS
Cytogenetic Map10q25UniSTS
RH94434  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,536,287 - 64,536,484 (+)MAPPERmRatBN7.2
Rnor_6.01066,928,509 - 66,928,705NCBIRnor6.0
Rnor_5.01064,719,522 - 64,719,718UniSTSRnor5.0
RGSC_v3.41065,766,108 - 65,766,304UniSTSRGSC3.4
Celera1063,506,984 - 63,507,180UniSTS
Cytogenetic Map10q25UniSTS
RH136900  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,456,769 - 64,456,929 (+)MAPPERmRatBN7.2
Rnor_6.01066,841,074 - 66,841,233NCBIRnor6.0
Rnor_5.01064,807,473 - 64,807,632UniSTSRnor5.0
RGSC_v3.41065,684,169 - 65,684,328UniSTSRGSC3.4
Celera1063,427,677 - 63,427,836UniSTS
Cytogenetic Map10q25UniSTS
RH136954  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,472,794 - 64,472,985 (+)MAPPERmRatBN7.2
Rnor_6.01066,857,082 - 66,857,272NCBIRnor6.0
Rnor_5.01064,791,363 - 64,791,553UniSTSRnor5.0
RGSC_v3.41065,700,440 - 65,700,630UniSTSRGSC3.4
Celera1063,443,607 - 63,443,797UniSTS
Cytogenetic Map10q25UniSTS
RH139234  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,414,235 - 64,414,459 (+)MAPPERmRatBN7.2
Rnor_6.01066,798,545 - 66,798,768NCBIRnor6.0
Rnor_5.01064,850,038 - 64,850,261UniSTSRnor5.0
RGSC_v3.41065,641,351 - 65,641,574UniSTSRGSC3.4
Celera1063,385,382 - 63,385,605UniSTS
Cytogenetic Map10q25UniSTS
BF391060  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,484,495 - 64,484,675 (+)MAPPERmRatBN7.2
Rnor_6.01066,868,784 - 66,868,963NCBIRnor6.0
Rnor_5.01064,779,672 - 64,779,851UniSTSRnor5.0
RGSC_v3.41065,712,142 - 65,712,321UniSTSRGSC3.4
Celera1063,455,309 - 63,455,488UniSTS
Cytogenetic Map10q25UniSTS
AA848827  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,443,723 - 64,443,904 (+)MAPPERmRatBN7.2
Rnor_6.01066,828,029 - 66,828,209NCBIRnor6.0
Rnor_5.01064,820,497 - 64,820,677UniSTSRnor5.0
Rnor_5.01064,820,473 - 64,820,677UniSTSRnor5.0
RGSC_v3.41065,671,124 - 65,671,304UniSTSRGSC3.4
Celera1063,414,632 - 63,414,812UniSTS
Cytogenetic Map10q25UniSTS
Omg  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21064,461,755 - 64,461,994 (+)MAPPERmRatBN7.2
Rnor_6.01066,846,060 - 66,846,298NCBIRnor6.0
Rnor_5.01064,802,408 - 64,802,646UniSTSRnor5.0
RGSC_v3.41065,689,155 - 65,689,393UniSTSRGSC3.4
Celera1063,432,659 - 63,432,897UniSTS
Cytogenetic Map10q25UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31

Sequence


Ensembl Acc Id: ENSRNOT00000046262   ⟹   ENSRNOP00000050393
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1064,306,301 - 64,536,485 (+)Ensembl
Rnor_6.0 Ensembl1066,690,133 - 66,928,706 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000089538   ⟹   ENSRNOP00000069925
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1064,306,301 - 64,536,485 (+)Ensembl
Rnor_6.0 Ensembl1066,732,390 - 66,928,903 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000098259   ⟹   ENSRNOP00000089070
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1064,350,476 - 64,536,485 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000102179   ⟹   ENSRNOP00000093378
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1064,306,301 - 64,536,485 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000106713   ⟹   ENSRNOP00000078171
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1064,306,301 - 64,536,658 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000118558   ⟹   ENSRNOP00000085815
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1064,348,130 - 64,536,485 (+)Ensembl
RefSeq Acc Id: NM_012609   ⟹   NP_036741
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81064,804,266 - 65,034,448 (+)NCBI
mRatBN7.21064,306,301 - 64,536,485 (+)NCBI
Rnor_6.01066,732,460 - 66,928,706 (+)NCBI
Rnor_5.01064,719,521 - 64,758,677 (-)NCBI
Rnor_5.01064,826,693 - 64,916,699 (-)NCBI
RGSC_v3.41065,574,833 - 65,766,305 (+)RGD
Celera1063,277,856 - 63,507,181 (+)RGD
Sequence:
RefSeq Acc Id: XM_039085200   ⟹   XP_038941128
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81064,803,992 - 65,037,086 (+)NCBI
mRatBN7.21064,306,027 - 64,539,112 (+)NCBI
RefSeq Acc Id: XM_039085201   ⟹   XP_038941129
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81064,803,992 - 65,037,086 (+)NCBI
mRatBN7.21064,306,435 - 64,535,948 (+)NCBI
RefSeq Acc Id: XM_063268411   ⟹   XP_063124481
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81064,803,986 - 64,927,827 (+)NCBI
RefSeq Acc Id: NP_036741   ⟸   NM_012609
- UniProtKB: P97526 (UniProtKB/Swiss-Prot),   F1LM28 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000069925   ⟸   ENSRNOT00000089538
Ensembl Acc Id: ENSRNOP00000050393   ⟸   ENSRNOT00000046262
RefSeq Acc Id: XP_038941128   ⟸   XM_039085200
- Peptide Label: isoform X1
- UniProtKB: F1LM28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038941129   ⟸   XM_039085201
- Peptide Label: isoform X2
- UniProtKB: A0A0G2JWL3 (UniProtKB/TrEMBL),   F1LM28 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000078171   ⟸   ENSRNOT00000106713
Ensembl Acc Id: ENSRNOP00000089070   ⟸   ENSRNOT00000098259
Ensembl Acc Id: ENSRNOP00000093378   ⟸   ENSRNOT00000102179
Ensembl Acc Id: ENSRNOP00000085815   ⟸   ENSRNOT00000118558
RefSeq Acc Id: XP_063124481   ⟸   XM_063268411
- Peptide Label: isoform X3
Protein Domains
CRAL-TRIO   Ras-GAP

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:3168 AgrOrtholog
BioCyc Gene G2FUF-24023 BioCyc
Ensembl Genes ENSRNOG00000013780 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000046262 ENTREZGENE
  ENSRNOT00000089538 ENTREZGENE
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
  3.40.525.10 UniProtKB/Swiss-Prot
  GTPase Activation - p120gap, domain 1 UniProtKB/Swiss-Prot
InterPro ARM-type_fold UniProtKB/Swiss-Prot
  CRAL-TRIO_dom UniProtKB/Swiss-Prot
  CRAL-TRIO_dom_sf UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PH_NF1 UniProtKB/Swiss-Prot
  Ras_GTPase UniProtKB/Swiss-Prot
  RasGAP_CS UniProtKB/Swiss-Prot
  RasGAP_dom UniProtKB/Swiss-Prot
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot
KEGG Report rno:24592 UniProtKB/Swiss-Prot
NCBI Gene 24592 ENTREZGENE
PANTHER NEUROFIBROMIN UniProtKB/Swiss-Prot
  PTHR10194 UniProtKB/Swiss-Prot
Pfam CRAL_TRIO_2 UniProtKB/Swiss-Prot
  PH_NF1 UniProtKB/Swiss-Prot
  RasGAP UniProtKB/Swiss-Prot
PhenoGen Nf1 PhenoGen
PROSITE CRAL_TRIO UniProtKB/Swiss-Prot
  RAS_GTPASE_ACTIV_1 UniProtKB/Swiss-Prot
  RAS_GTPASE_ACTIV_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000013780 RatGTEx
SMART RasGAP UniProtKB/Swiss-Prot
  SEC14 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot
  SSF48371 UniProtKB/Swiss-Prot
TIGR TC221490
UniProt A0A0G2JWL3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5Y764_RAT UniProtKB/TrEMBL
  A0A8I6A466_RAT UniProtKB/TrEMBL
  A0A8I6AIM8_RAT UniProtKB/TrEMBL
  A0A8I6GHR7_RAT UniProtKB/TrEMBL
  A6HH84_RAT UniProtKB/TrEMBL
  A6HH85_RAT UniProtKB/TrEMBL
  F1LM28 ENTREZGENE, UniProtKB/TrEMBL
  NF1_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-09-25 Nf1  neurofibromin 1  Nf1  neurofibromatosis 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2002-06-10 Nf1  Neurofibromatosis type 1      Symbol and Name status set to approved 70586 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_expression type I isoform is expressed in brain, pituitary, and testis 729067
gene_expression type II isoform is expressed in heart, kidney, and ovary 729067