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0NF1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameNF1
DescriptionNeurofibromin (neurofibromatosis-related protein nf-1) .
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005737 cytoplasm (TAS)
0004857 enzyme inhibitor activity (TAS)
0005096 GTPase activator activity (TAS)
0008285 negative regulation of cell proliferation (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Ras proteins are membrane-associated molecular switches that bind GTP and GDP and slowly hydrolyze GTP to GDP . This intrinsic GTPase activity of ras is stimulated by a family of proteins collectively known as GAP or GTPase-activating proteins . As it is the GTP bound form of ras which is active.hese proteins are said to be down-regulators of ras.The Ras GTPase-activating proteins are quite large (from 765 residues for sar1 to 3079 residues for IRA2) but share only a limited (about 250 residues) region of sequence similarity.eferred to as the catalytic domain or rasGAP domain.Note: There are distinctly different GAPs for the rap and rho/rac subfamilies of ras-like proteins (reviewed in reference ) that do not share sequence similarity with ras GAPs.
  IPR001936:Ras GTPase-activating protein
This entry defines the C-terminal of various retinaldehyde/retinal-binding proteins that may befunctional components of the visual cycle. Cellular retinaldehyde-binding protein (CRALBP) carries 11-cis-retinol or 11-cis-retinaldehyde as endogenous ligands and may function as a substrate carrier protein that modulates interaction of these retinoids with visual cycle enzymes . The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase.ontains a protein kinase domain.nd has separate rac-specific and rho-specific guanine nucleotide exchange factor domains . Trio is a multifunctional protein that integrates and amplifies signals involved in coordinating actin remodeling.hich is necessary for cell migration and growth.Other members of the family are transfer proteins that include.uanine nucleotide exchange factor that may function as an effector of RAC1.hosphatidylinositol/phosphatidylcholine transfer protein that is required for the transport of secretory proteins from the golgicomplex and alpha-tocopherol transfer protein that enhances the transfer of the ligand between separate membranes.
  IPR001251:Cellular retinaldehyde-binding/triple function, C-terminal
Proteins containing a RhoGAP (Rho GTPase Activating Protein) domain usually function to catalyze the hydrolysis of GTP that is bound to Rho.ac and/or Cdc42.nactivating these regulators of the actin cytoskeleton. The 53 known human RhoGAP domain-containing proteins are the largest known group of Rho GTPase regulators and significantly outnumber the 21 Rho GTPases they presumably regulate. This excess of GAP proteins probably indicates complex regulation of the Rho GTPases and is consistent with the existence of almost as many (48) human Dbl domain-containing Rho GEFs that act antagonistically to the RhoGAP proteins by activating the Rho GTPases. Phylogenetic analysis offers evidence for frequent domain duplication and for duplication of the entire genes containing these GAP domains .The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR008936:Rho GTPase activation protein
IPR001936:RasGAP 
Evalue:-152.356547323514 
Location:1187-1557IPR001251:SEC14 
Evalue:-10.9208187539524 
Location:1583-1735
SequencesProtein: NF1_HUMAN (2839 aa)
mRNA: M89914 NM_000267
Local Annotation
Synapse Ontology
introduce the substructure of the synapse and the location where the molecule can be seen. It will contain all the constructive special organelle and molecule we known.
sdb:0001 Structure/Biochemistry of synapse  (Evidence:keywords)
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
KO assignmentK08052
  Level 3 annotation:
    neurofibromin 1
  Level 2 annotation:
    MAPK signaling pathway
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 91 residues, 26446242-26446513Exon2: 50 residues, 26507126-26507270Exon3: 30 residues, 26510153-26510237Exon4: 65 residues, 26514329-26514520Exon5: 37 residues, 26521034-26521141Exon6: 24 residues, 26532565-26532633Exon7: 27 residues, 26532853-26532929Exon8: 54 residues, 26533651-26533809Exon9: 60 residues, 26551565-26551739Exon10: 43 residues, 26552180-26552303Exon11: 27 residues, 26552554-26552629Exon12: 46 residues, 26557383-26557515Exon13: 47 residues, 26565594-26565729Exon14: 40 residues, 26570148-26570262Exon15: 28 residues, 26572993-26573073Exon16: 43 residues, 26574587-26574711Exon17: 54 residues, 26576238-26576394Exon18: 85 residues, 26577578-26577828Exon19: 26 residues, 26578361-26578435Exon20: 30 residues, 26578666-26578750Exon21: 149 residues, 26580168-26580609Exon22: 48 residues, 26580978-26581118Exon23: 43 residues, 26581403-26581526Exon24: 30 residues, 26581985-26582069Exon25: 41 residues, 26583216-26583333Exon26: 62 residues, 26583843-26584025Exon27: 72 residues, 26584145-26584357Exon28: 56 residues, 26586754-26586916Exon29: 36 residues, 26587061-26587165Exon30: 47 residues, 26600127-26600263Exon31: 55 residues, 26609487-26609646Exon32: 34 residues, 26610175-26610273Exon33: 51 residues, 26611512-26611659Exon34: 51 residues, 26612854-26613001Exon35: 39 residues, 26616372-26616483Exon36: 146 residues, 26676963-26677396Exon37: 115 residues, 26678642-26678983Exon38: 69 residues, 26681439-26681642Exon39: 66 residues, 26685981-26686175Exon40: 49 residues, 26687476-26687617Exon41: 95 residues, 26687778-26688058Exon42: 73 residues, 26688511-26688726Exon43: 22 residues, 26688962-26689024Exon44: 40 residues, 26689168-26689283Exon45: 36 residues, 26689847-26689949Exon46: 49 residues, 26691648-26691789Exon47: 44 residues, 26694152-26694279Exon48: 46 residues, 26700263-26700395Exon49: 47 residues, 26701326-26701462Exon50: 54 residues, 26703400-26703558Exon51: 43 residues, 26707603-26707726Exon52: 45 residues, 26708103-26708234Exon53: 35 residues, 26708412-26708513Exon54: 49 residues, 26709623-26709766Exon55: 17 residues, 26710112-26710159Exon56: 74 residues, 26711630-26711847Exon57: 146 residues, 26725156-26725590Exon58: 2 residues, -Jump to NF1_HUMANExon1: 80 residues, 26446274-26446513Exon2: 50 residues, 26507126-26507270Exon3: 30 residues, 26510153-26510237Exon4: 65 residues, 26514329-26514520Exon5: 37 residues, 26521034-26521141Exon6: 24 residues, 26532565-26532633Exon7: 27 residues, 26532853-26532929Exon8: 54 residues, 26533651-26533809Exon9: 60 residues, 26551565-26551739Exon10: 43 residues, 26552180-26552303Exon11: 27 residues, 26552554-26552629Exon12: 46 residues, 26557383-26557515Exon13: 47 residues, 26565594-26565729Exon14: 40 residues, 26570148-26570262Exon15: 28 residues, 26572993-26573073Exon16: 43 residues, 26574587-26574711Exon17: 54 residues, 26576238-26576394Exon18: 85 residues, 26577578-26577828Exon19: 26 residues, 26578361-26578435Exon20: 30 residues, 26578666-26578750Exon21: 149 residues, 26580168-26580609Exon22: 48 residues, 26580978-26581118Exon23: 43 residues, 26581403-26581526Exon24: 30 residues, 26581985-26582069Exon25: 41 residues, 26583216-26583333Exon26: 62 residues, 26583843-26584025Exon27: 72 residues, 26584145-26584357Exon28: 56 residues, 26586754-26586916Exon29: 36 residues, 26587061-26587165Exon30: 47 residues, 26600127-26600263Exon31: 23 residues, 26604081-26604144Exon32: 55 residues, 26609487-26609646Exon33: 34 residues, 26610175-26610273Exon34: 51 residues, 26611512-26611659Exon35: 51 residues, 26612854-26613001Exon36: 39 residues, 26616372-26616483Exon37: 146 residues, 26676963-26677396Exon38: 115 residues, 26678642-26678983Exon39: 69 residues, 26681439-26681642Exon40: 66 residues, 26685981-26686175Exon41: 49 residues, 26687476-26687617Exon42: 95 residues, 26687778-26688058Exon43: 73 residues, 26688511-26688726Exon44: 22 residues, 26688962-26689024Exon45: 40 residues, 26689168-26689283Exon46: 36 residues, 26689847-26689949Exon47: 49 residues, 26691648-26691789Exon48: 44 residues, 26694152-26694279Exon49: 46 residues, 26700263-26700395Exon50: 47 residues, 26701326-26701462Exon51: 54 residues, 26703400-26703558Exon52: 43 residues, 26707603-26707726Exon53: 45 residues, 26708103-26708234Exon54: 35 residues, 26708412-26708513Exon55: 49 residues, 26709623-26709766Exon56: 17 residues, 26710112-26710159Exon57: 74 residues, 26711630-26711847Exon58: 153 residues, 26725156-26725609Exon59: 2 residues, -Jump to NF1_HUMAN  
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Loci Cluster (Details)Loci: 2994 25828551-25877957 ~-49K 15450(GOSR1)(+)Loci: 2995 26273058-26310335 ~-37K 15466(CENTA2)(+)Loci: 2996 26446242-26725609 ~-279K 15473(NF1)(+)Loci: 2997 26742767-26889352 ~-147K 15482(RAB11FIP4)(+)Loci: 4279 25549033-25586831 ~-38K 15444(SLC6A4)(-)Link out to UCSC