NF1 - Neurofibromin - human protein (Function)
 
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NF1 »  Neurofibromin
 
Protein also known as:  Neurofibromatosis-related protein NF-1. Cleaved into:  Neurofibromin truncated.
Gene name:  NF1
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 354 6
GENE REF ISO

Function

 show evidences
Overview 
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.  
3
  • UniProtKB
GO molecular function 
GTPase activator activitydefinition[GO:0005096]  
3
  • HGNC
  • UniProtKB
Phosphatidylcholine bindingdefinition[GO:0031210]  
1
  • UniProtKB
Phosphatidylethanolamine bindingdefinition[GO:0008429]  
1
  • UniProtKB
Protein bindingdefinition[GO:0005515]  
3
  • UniProtKB
  • IntAct
GO biological process 
Actin cytoskeleton organizationdefinition[GO:0030036]  
1
  • Ortholog Curator
Adrenal gland developmentdefinition[GO:0030325]  
1
  • Ortholog Curator
Artery morphogenesisdefinition[GO:0048844]  
1
  • Ortholog Curator
Brain developmentdefinition[GO:0007420]  
1
  • Ortholog Curator
Camera-type eye morphogenesisdefinition[GO:0048593]  
1
  • Ortholog Curator
Cell communicationdefinition[GO:0007154]  
1
  • Ortholog Curator
Cerebral cortex developmentdefinition[GO:0021987]  
1
  • Ortholog Curator
Cognitiondefinition[GO:0050890]  
1
  • HGNC
Collagen fibril organizationdefinition[GO:0030199]  
1
  • Ortholog Curator
Extracellular matrix organizationdefinition[GO:0030198]  
1
  • Ortholog Curator
Extrinsic apoptotic signaling pathway via death domain receptorsdefinition[GO:0008625] silver  
1
  • Ortholog Compara
Forebrain astrocyte developmentdefinition[GO:0021897]  
1
  • Ortholog Curator
Forebrain morphogenesisdefinition[GO:0048853]  
1
  • Ortholog Curator
Heart developmentdefinition[GO:0007507]  
1
  • Ortholog Curator
Liver developmentdefinition[GO:0001889]  
1
  • Ortholog Curator
MAPK cascadedefinition[GO:0000165]  
1
  • Ortholog Curator
Metanephros developmentdefinition[GO:0001656]  
1
  • Ortholog Curator
Myelination in peripheral nervous systemdefinition[GO:0022011]  
1
  • Ortholog Curator
Negative regulation of angiogenesisdefinition[GO:0016525] silver  
1
  • Ortholog Compara
Negative regulation of astrocyte differentiationdefinition[GO:0048712] silver  
1
  • Ortholog Compara
Negative regulation of cell migrationdefinition[GO:0030336]  
1
  • MGI
Negative regulation of cell-matrix adhesiondefinition[GO:0001953] silver  
1
  • Ortholog Compara
Negative regulation of endothelial cell proliferationdefinition[GO:0001937]  
2
  • HGNC
  • MGI
Negative regulation of fibroblast proliferationdefinition[GO:0048147]  
1
  • Ortholog Curator
Negative regulation of MAP kinase activitydefinition[GO:0043407]  
1
  • Ortholog Curator
Negative regulation of MAPK cascadedefinition[GO:0043409]  
2
  • MGI
  • Ortholog Curator
Negative regulation of neuroblast proliferationdefinition[GO:0007406]  
1
  • Ortholog Curator
Negative regulation of neurotransmitter secretiondefinition[GO:0046929] silver  
1
  • Ortholog Compara
Negative regulation of oligodendrocyte differentiationdefinition[GO:0048715]  
1
  • Ortholog Curator
Negative regulation of osteoclast differentiationdefinition[GO:0045671] silver  
1
  • Ortholog Compara
Negative regulation of protein kinase activitydefinition[GO:0006469]  
1
  • Ortholog Curator
Negative regulation of Rac protein signal transductiondefinition[GO:0035021] silver  
1
  • Ortholog Compara
Negative regulation of Ras protein signal transductiondefinition[GO:0046580]  
1
  • RefGenome
Negative regulation of transcription factor import into nucleusdefinition[GO:0042992]  
1
  • Ortholog Curator
Neural tube developmentdefinition[GO:0021915] silver  
1
  • Ortholog Compara
Osteoblast differentiationdefinition[GO:0001649]  
1
  • Ortholog Curator
Peripheral nervous system developmentdefinition[GO:0007422]  
1
  • Ortholog Curator
Phosphatidylinositol 3-kinase signalingdefinition[GO:0014065]  
1
  • Ortholog Curator
Pigmentationdefinition[GO:0043473]  
1
  • Ortholog Curator
Positive regulation of adenylate cyclase activitydefinition[GO:0045762]  
1
  • Ortholog Curator
Positive regulation of apoptotic processdefinition[GO:0043065]  
1
  • Ortholog Curator
Positive regulation of endothelial cell proliferationdefinition[GO:0001938] silver  
1
  • Ortholog Compara
Positive regulation of extrinsic apoptotic signaling pathway in absence of liganddefinition[GO:2001241] silver  
1
  • Ortholog Compara
Positive regulation of extrinsic apoptotic signaling pathway via death domain receptorsdefinition[GO:1902043] silver  
1
  • Ortholog Compara
Positive regulation of GTPase activitydefinition[GO:0043547]  
3
  • MGI
  • UniProtKB
  • Ortholog Curator
Positive regulation of neuron apoptotic processdefinition[GO:0043525]  
1
  • Ortholog Curator
Ras protein signal transductiondefinition[GO:0007265]  
1
  • Ortholog Curator
Regulation of angiogenesisdefinition[GO:0045765]  
1
  • HGNC
Regulation of blood vessel endothelial cell migrationdefinition[GO:0043535]  
1
  • HGNC
Regulation of bone resorptiondefinition[GO:0045124]  
1
  • Ortholog Curator
Regulation of cell-matrix adhesiondefinition[GO:0001952]  
1
  • Ortholog Curator
Regulation of glial cell differentiationdefinition[GO:0045685]  
1
  • Ortholog Curator
Regulation of GTPase activitydefinition[GO:0043087]  
1
  • HGNC
Regulation of long-term neuronal synaptic plasticitydefinition[GO:0048169] silver  
1
  • Ortholog Compara
Regulation of synaptic transmission, GABAergicdefinition[GO:0032228] silver  
1
  • Ortholog Compara
Response to hypoxiadefinition[GO:0001666]  
1
  • Ortholog Curator
Schwann cell developmentdefinition[GO:0014044]  
1
  • Ortholog Curator
Skeletal muscle tissue developmentdefinition[GO:0007519] silver  
1
  • Ortholog Compara
Smooth muscle tissue developmentdefinition[GO:0048745]  
1
  • Ortholog Curator
Spinal cord developmentdefinition[GO:0021510]  
1
  • Ortholog Curator
Sympathetic nervous system developmentdefinition[GO:0048485]  
1
  • Ortholog Curator
Visual learningdefinition[GO:0008542]  
1
  • Ortholog Curator
Wound healingdefinition[GO:0042060]  
1
  • Ortholog Curator
Pathways 
According to KEGG, this protein belongs to the following pathway:
MAPK signaling pathway  hsa04010+4763  
Caution 
Was originally thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.  
2
  • UniProtKB
 

Keywords

Molecular function 
GTPase activation  definition   [KW-0343]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: Neurofibromin_1
GenomeRNAi: 4763
PRO: PR:P21359