Version 5.4
Homo sapiens Gene: NF1
Summary
InnateDB Gene IDBG-39462.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NF1
Gene Name neurofibromin 1
Synonyms NFNS; VRNF; WSS
Species Homo sapiens
Ensembl Gene ENSG00000196712
Encoded Proteins
IDBP-39464
neurofibromin 1
IDBP-39466
neurofibromin 1
IDBP-374836
neurofibromin 1
IDBP-374840
neurofibromin 1
IDBP-764960
IDBP-758581
IDBP-762959
IDBP-764089
IDBP-759141
IDBP-757894
IDBP-760539
IDBP-758465
IDBP-760012
IDBP-761038
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:31094927-31382116
Strand Forward strand
Band q11.2
Transcripts
ENST00000356175 ENSP00000348498
ENST00000358273 ENSP00000351015
ENST00000431387 ENSP00000412921
ENST00000456735 ENSP00000389907
ENST00000422121 ENSP00000465138
ENST00000487476
ENST00000489712 ENSP00000467284
ENST00000495910 ENSP00000463682
ENST00000490416
ENST00000493220
ENST00000466819 ENSP00000463819
ENST00000479614 ENSP00000462157
ENST00000479536 ENSP00000467080
ENST00000471572 ENSP00000464678
ENST00000468273 ENSP00000464702
ENST00000498569
ENST00000488981
ENST00000581113
ENST00000579081 ENSP00000462408
ENST00000584328
ENST00000581790 ENSP00000462700
ENST00000577967
ENST00000582892
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 23 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005096 GTPase activator activity
GO:0005099 Ras GTPase activator activity
GO:0005488 binding
GO:0005515 protein binding
GO:0008429 phosphatidylethanolamine binding
GO:0031210 phosphatidylcholine binding
Biological Process
GO:0000165 MAPK cascade
GO:0001649 osteoblast differentiation
GO:0001656 metanephros development
GO:0001666 response to hypoxia
GO:0001889 liver development
GO:0001937 negative regulation of endothelial cell proliferation
GO:0001938 positive regulation of endothelial cell proliferation
GO:0001952 regulation of cell-matrix adhesion
GO:0001953 negative regulation of cell-matrix adhesion
GO:0006469 negative regulation of protein kinase activity
GO:0007154 cell communication
GO:0007165 signal transduction
GO:0007265 Ras protein signal transduction
GO:0007406 negative regulation of neuroblast proliferation
GO:0007420 brain development
GO:0007422 peripheral nervous system development
GO:0007507 heart development
GO:0007519 skeletal muscle tissue development
GO:0008285 negative regulation of cell proliferation
GO:0008542 visual learning
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0014044 Schwann cell development
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0016525 negative regulation of angiogenesis
GO:0021510 spinal cord development
GO:0021897 forebrain astrocyte development
GO:0021915 neural tube development
GO:0021987 cerebral cortex development
GO:0022011 myelination in peripheral nervous system
GO:0030036 actin cytoskeleton organization
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030325 adrenal gland development
GO:0030336 negative regulation of cell migration
GO:0032228 regulation of synaptic transmission, GABAergic
GO:0032318 regulation of Ras GTPase activity
GO:0032320 positive regulation of Ras GTPase activity
GO:0035021 negative regulation of Rac protein signal transduction
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0042992 negative regulation of transcription factor import into nucleus
GO:0043065 positive regulation of apoptotic process
GO:0043407 negative regulation of MAP kinase activity
GO:0043409 negative regulation of MAPK cascade
GO:0043473 pigmentation
GO:0043525 positive regulation of neuron apoptotic process
GO:0043535 regulation of blood vessel endothelial cell migration
GO:0045124 regulation of bone resorption
GO:0045671 negative regulation of osteoclast differentiation
GO:0045685 regulation of glial cell differentiation
GO:0045762 positive regulation of adenylate cyclase activity
GO:0045765 regulation of angiogenesis
GO:0046580 negative regulation of Ras protein signal transduction
GO:0046929 negative regulation of neurotransmitter secretion
GO:0048147 negative regulation of fibroblast proliferation
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0048485 sympathetic nervous system development
GO:0048593 camera-type eye morphogenesis
GO:0048712 negative regulation of astrocyte differentiation
GO:0048715 negative regulation of oligodendrocyte differentiation
GO:0048745 smooth muscle tissue development
GO:0048844 artery morphogenesis
GO:0048853 forebrain morphogenesis
GO:0050890 cognition
GO:0051056 regulation of small GTPase mediated signal transduction
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020716
View Gene Order
ENSBTAG00000011829
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04010
MAPK signaling pathway pathway
INOH
PID NCI
syndecan_2_pathway
Syndecan-2-mediated signaling events
hnf3bpathway
FOXA2 and FOXA3 transcription factor networks
atf2_pathway
ATF-2 transcription factor network
ras_pathway
Regulation of Ras family activation
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.113577 Hs.447837 Hs.597889 Hs.604118 Hs.606512 Hs.622370 Hs.721732
RefSeq NM_000267 NM_001042492 NM_001128147 XM_006721925
HUGO
OMIM
CCDS CCDS11264 CCDS42292 CCDS45645
HPRD 01203
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca