Mus musculus Protein: Nf1
Summary
InnateDB Protein IDBP-264926.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Nf1
Protein Name neurofibromatosis 1
Synonyms AW494271; E030030H24Rik; Nf-1;
Species Mus musculus
Ensembl Protein ENSMUSP00000103886
InnateDB Gene IDBG-203454 (Nf1)
Protein Structure
UniProt Annotation
Function Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
Subcellular Localization Nucleus {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}.
Disease Associations
Tissue Specificity Isoform 1 is expressed predominantly in brain, spinal cord and testis. Isoform 2 is expressed predominantly in adrenal gland, kidney, ovary and lung. Isoform 3 is expressed predominantly in adrenal gland and isoform 4 is expressed mainly in the testis.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 22 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 9 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 22 [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: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: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:0005737 cytoplasm
GO:0030424 axon
GO:0030425 dendrite
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
Protein Structure and Domains
PDB ID MGI:97306
InterPro IPR001251 CRAL-TRIO domain
IPR001936 Ras GTPase-activating protein
IPR008936 Rho GTPase activation protein
IPR016024 Armadillo-type fold
PFAM PF00650
PF13716
PF00616
PRINTS
PIRSF
SMART SM00516
SM00323
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q04690
PhosphoSite PhosphoSite-Q04690
TrEMBL
UniProt Splice Variant
Entrez Gene 18015
UniGene Mm.461040
RefSeq XP_006532503
MGI ID
MGI Symbol Nf1
OMIM
CCDS
HPRD
IMGT
EMBL D30730 D30731 L10367 L10368 L10369 L10370 X54924
GenPept AAA39806 AAA68132 BAA06395 BAA06396 CAA38690