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NF1 neurofibromin 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000267 Homo sapiens neurofibromin 1 (NF1), transcript variant 2, mRNA. Full Length Quote
ORF Sequence Quote
NM_001042492 Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. Full Length Quote
ORF Sequence Quote
NM_001128147 Homo sapiens neurofibromin 1 (NF1), transcript variant 3, mRNA. Full Length $852.31
ORF Sequence $516.78


Gene Symbol NF1
Entrez Gene ID 4763
Full Name neurofibromin 1
Synonyms DKFZp686J1293, FLJ21220, NFNS, VRNF, WSS
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q11.2
Summary This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq].
Disorder

MIM: 613113

Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile
mRNA NM_000267, 270132515
Protein NP_000258, 4557793
Product neurofibromin isoform 2
RefSeq Status REVIEWED
mRNA NM_001042492, 270132520
Protein NP_001035957, 109826564
Product neurofibromin isoform 1
RefSeq Status REVIEWED
mRNA NM_001128147, 270132525
Protein NP_001121619, 189458804
Product neurofibromin isoform 3
RefSeq Status REVIEWED
KEGG
hsa04010MAPK signaling pathway
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
atf2_pathwayATF-2 transcription factor network
syndecan_2_pathwaySyndecan-2-mediated signaling events
WikiPathways
WP382MAPK signaling pathway
Homo sapiens (human)NF1NP_001035957.1
Pan troglodytes (chimpanzee)NF1XP_511395.2
Canis lupus familiaris (dog)NF1XP_537738.2
Mus musculus (house mouse)Nf1NP_035027.1
Rattus norvegicus (Norway rat)Nf1NP_036741.1
Gallus gallus (chicken)NF1XP_415914.2
Danio rerio (zebrafish)nf1aXP_692937.4
Drosophila melanogaster (fruit fly)Nf1NP_733132.2
Process
IDNameEvidence
GO:0000165MAPKKK cascadeISS
GO:0001649osteoblast differentiationISS
GO:0001656metanephros developmentISS
GO:0001666response to hypoxiaISS
GO:0001889liver developmentISS
GO:0001937negative regulation of endothelial cell proliferationIMP
GO:0001938positive regulation of endothelial cell proliferationIEA
GO:0001952regulation of cell-matrix adhesionISS
GO:0001953negative regulation of cell-matrix adhesionIEA
GO:0006469negative regulation of protein kinase activityISS
GO:0007154cell communicationISS
GO:0007165signal transductionIEA
GO:0007265Ras protein signal transductionISS
GO:0007406negative regulation of neuroblast proliferationISS
GO:0007420brain developmentISS
GO:0007422peripheral nervous system developmentISS
GO:0007507heart developmentISS
GO:0007519skeletal muscle tissue developmentIEA
GO:0008542visual learningISS
GO:0014044Schwann cell developmentISS
GO:0014065phosphatidylinositol 3-kinase cascadeISS
GO:0016525negative regulation of angiogenesisIEA
GO:0021510spinal cord developmentISS
GO:0021897forebrain astrocyte developmentISS
GO:0021915neural tube developmentIEA
GO:0021987cerebral cortex developmentISS
GO:0022011myelination in peripheral nervous systemISS
GO:0030036actin cytoskeleton organizationISS
GO:0030198extracellular matrix organizationISS
GO:0030199collagen fibril organizationISS
GO:0030325adrenal gland developmentISS
GO:0030336negative regulation of cell migrationIMP
GO:0032228regulation of synaptic transmission, GABAergicIEA
GO:0032318regulation of Ras GTPase activityIMP
GO:0032320positive regulation of Ras GTPase activityIDA
GO:0032320positive regulation of Ras GTPase activityIMP
GO:0032320positive regulation of Ras GTPase activityISS
GO:0035021negative regulation of Rac protein signal transductionIEA
GO:0042060wound healingISS
GO:0042992negative regulation of transcription factor import into nucleusISS
GO:0043065positive regulation of apoptosisISS
GO:0043407negative regulation of MAP kinase activityISS
GO:0043409negative regulation of MAPKKK cascadeIMP
GO:0043409negative regulation of MAPKKK cascadeISS
GO:0043473pigmentationISS
GO:0043525positive regulation of neuron apoptosisISS
GO:0043535regulation of blood vessel endothelial cell migrationIMP
GO:0045124regulation of bone resorptionISS
GO:0045671negative regulation of osteoclast differentiationIEA
GO:0045685regulation of glial cell differentiationISS
GO:0045762positive regulation of adenylate cyclase activityISS
GO:0045765regulation of angiogenesisIMP
GO:0046580negative regulation of Ras protein signal transductionISS
GO:0046929negative regulation of neurotransmitter secretionIEA
GO:0048147negative regulation of fibroblast proliferationIEA
GO:0048169regulation of long-term neuronal synaptic plasticityIEA
GO:0048485sympathetic nervous system developmentISS
GO:0048593camera-type eye morphogenesisISS
GO:0048712negative regulation of astrocyte differentiationIEA
GO:0048715negative regulation of oligodendrocyte differentiationISS
GO:0048745smooth muscle tissue developmentISS
GO:0048844artery morphogenesisISS
GO:0048853forebrain morphogenesisISS
GO:0050890cognitionIMP
GO:0051056regulation of small GTPase mediated signal transductionIEA
Component
IDNameEvidence
GO:0005622intracellularIEA
GO:0005634nucleusISS
GO:0005737cytoplasmISS
GO:0030424axonIDA
GO:0030425dendriteIDA
GO:0031235intrinsic to internal side of plasma membraneISS
Function
IDNameEvidence
GO:0005099Ras GTPase activator activityIDA
GO:0005515protein bindingIPI
GeneCards NF1
PDB 1NF1, 3PEG, 3PG7, 3P7Z, 2D4Q, 2E2X
UniProt P21359, Q14931
MIM 613113
Ensembl ENSG00000196712
HGNC 7765
HPRD 01203

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