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NF1 neurofibromin 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000267 Homo sapiens neurofibromin 1 (NF1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
NM_001042492 Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
NM_001128147 Homo sapiens neurofibromin 1 (NF1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005257983 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_005257984 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006721922 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006721923 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006721924 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006721925 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006721926 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006721927 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006721928 PREDICTED: Homo sapiens neurofibromin 1 (NF1), transcript variant X9, mRNA. GenEZ ORF Cloning On-demand $2699.00 30

*Business Day

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Gene Symbol NF1
Entrez Gene ID 4763
Full Name neurofibromin 1
Synonyms NFNS, VRNF, WSS
General protein information
Preferred Names
neurofibromin
Names
neurofibromin
neurofibromatosis-related protein NF-1
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, Jul 2008].
Disorder

MIM: 613113

Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile

mRNA Protein Product Sequence Price Select
NM_000267, 270132515 NP_000258, 4557793 neurofibromin isoform 2 ORF Sequence $4500.00
NM_001042492, 270132520 NP_001035957, 109826564 neurofibromin isoform 1 ORF Sequence $4500.00
NM_001128147, 270132525 NP_001121619, 189458804 neurofibromin isoform 3 ORF Sequence $700.00
XM_005257983, 530411043 XP_005258040, 530411044 neurofibromin isoform X1 ORF Sequence $4500.00
XM_005257984, 530411045 XP_005258041, 530411046 neurofibromin isoform X2 ORF Sequence $4500.00
XM_006721922, 578830990 XP_006721985, 578830991 neurofibromin isoform X3 ORF Sequence $4500.00
XM_006721923, 578830992 XP_006721986, 578830993 neurofibromin isoform X4 ORF Sequence $4500.00
XM_006721924, 578830994 XP_006721987, 578830995 neurofibromin isoform X5 ORF Sequence $4500.00
XM_006721925, 578830996 XP_006721988, 578830997 neurofibromin isoform X6 ORF Sequence $4500.00
XM_006721926, 578830998 XP_006721989, 578830999 neurofibromin isoform X7 ORF Sequence $4500.00
XM_006721927, 578831000 XP_006721990, 578831001 neurofibromin isoform X8 ORF Sequence $4500.00
XM_006721928, 578831002 XP_006721991, 578831003 neurofibromin isoform X9 ORF Sequence $2500.00
KEGG
hsa04010MAPK signaling pathway
hsa04014Ras signaling pathway
WikiPathways
WP382MAPK signaling pathway
WP1984Integrated Breast Cancer Pathway
WP2253pilocytic astrocytoma
WP2261Signaling Pathways in Glioblastoma
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
atf2_pathwayATF-2 transcription factor network
syndecan_2_pathwaySyndecan-2-mediated signaling events
Homo sapiens (human)NF1NP_001035957.1
Pan troglodytes (chimpanzee)NF1XP_511395.2
Macaca mulatta (Rhesus monkey)NF1XP_002800429.1
Canis lupus familiaris (dog)NF1XP_537738.3
Mus musculus (house mouse)Nf1NP_035027.1
Rattus norvegicus (Norway rat)Nf1NP_036741.1
Gallus gallus (chicken)NF1XP_004946843.1
Danio rerio (zebrafish)nf1bXP_692937.4
Drosophila melanogaster (fruit fly)Nf1NP_733132.2
Xenopus (Silurana) tropicalis (western clawed frog)nf1XP_002936865.2
Process
IDNameEvidence
GO:0000165MAPK 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: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:0008625extrinsic apoptotic signaling pathway via death domain receptorsIEA
GO:0014044Schwann cell developmentISS
GO:0014065phosphatidylinositol 3-kinase signalingISS
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 apoptotic processISS
GO:0043407negative regulation of MAP kinase activityISS
GO:0043409negative regulation of MAPK cascadeIMP
GO:0043409negative regulation of MAPK cascadeISS
GO:0043473pigmentationISS
GO:0043525positive regulation of neuron apoptotic processISS
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 transductionIBA
GO:0046929negative regulation of neurotransmitter secretionIEA
GO:0048147negative regulation of fibroblast proliferationISS
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:1902043positive regulation of extrinsic apoptotic signaling pathway via death domain receptorsIEA
GO:2001241positive regulation of extrinsic apoptotic signaling pathway in absence of ligandIEA
Component
IDNameEvidence
GO:0005634nucleusISS
GO:0005730nucleolusIEA
GO:0005737cytoplasmIBA
GO:0005737cytoplasmISS
GO:0016020membraneIDA
GO:0030424axonIDA
GO:0030425dendriteIDA
GO:0031235intrinsic component of the cytoplasmic side of the plasma membraneIBA
Function
IDNameEvidence
GO:0005099Ras GTPase activator activityIDA
GO:0005515protein bindingIPI
GO:0008429phosphatidylethanolamine bindingIDA
GO:0031210phosphatidylcholine bindingIDA
GeneCards NF1
UniProt P21359
Vega OTTHUMG00000132871
MIM 613113
Ensembl ENSG00000196712
HGNC 7765
HPRD 01203

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the NF1 gene?

The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves. These specialized cells form myelin sheaths, which are the fatty coverings that insulate and protect certain nerve cells.

Neurofibromin acts as a tumor suppressor protein. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. This protein appears to prevent cell overgrowth by turning off another protein (called ras) that stimulates cell growth and division. Other potential functions for neurofibromin are under investigation.

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