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Gene Information
Gene ID:4763
Symbol:NF1
Full Name:neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
Alias:DKFZp686J1293|FLJ21220|NFNS|VRNF|WSS
Organism:Homo sapiens (Human)
Chromosome:17
Genetic Location:17q11.2
Physical Location:26446120-26728820 on NC_000017.9
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:NF1
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Linkage Dataset
MarkerLODP valueLocation (bp)
D17S798  28313925
Region:26313925-30313925
Phenotype:Alcoholism phenotype along with age, gender, and P300 or constraint
Name:15211641
Method:Linkage
Publication:Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000267.2NP_000258.1NC_000017.9 range: 26446120..26728820
NM_001042492.1NP_001035957.1NC_000017.9 range: 26446120..26728820
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005634nucleusCellular ComponentISS (1550670)
GO:0030425dendriteCellular ComponentIDA (1550670)
GO:0030424axonCellular ComponentIDA (1550670)
GO:0005737cytoplasmCellular ComponentISS (1550670)
GO:0005622intracellularCellular ComponentIEA
GO:0005575cellular_componentCellular ComponentND
GO:0003674molecular_functionMolecular FunctionND
GO:0005096GTPase activator activityMolecular FunctionIEA
GO:0005099Ras GTPase activator activityMolecular FunctionIDA (1568247|1570015)
GO:0005515protein bindingMolecular FunctionIPI (11356864)
GO:0043535regulation of blood vessel endothelial cell migrationBiological ProcessIMP (17404841)
GO:0043525positive regulation of neuron apoptosisBiological ProcessISS
GO:0043473pigmentationBiological ProcessISS
GO:0043409negative regulation of MAPKKK cascadeBiological ProcessISS
GO:0043407negative regulation of MAP kinase activityBiological ProcessISS
GO:0042992negative regulation of transcription factor import into nucleusBiological ProcessISS
GO:0042060wound healingBiological ProcessISS
GO:0032320positive regulation of Ras GTPase activityBiological ProcessISS
GO:0051056regulation of small GTPase mediated signal transductionBiological ProcessIEA
GO:0045124regulation of bone resorptionBiological ProcessISS
GO:0045685regulation of glial cell differentiationBiological ProcessISS
GO:0048745smooth muscle developmentBiological ProcessISS
GO:0048844artery morphogenesisBiological ProcessISS
GO:0048715negative regulation of oligodendrocyte differentiationBiological ProcessISS
GO:0048853forebrain morphogenesisBiological ProcessISS
GO:0048593camera-type eye morphogenesisBiological ProcessISS
GO:0050890cognitionBiological ProcessIMP (17299016)
GO:0045786negative regulation of cell cycleBiological ProcessIEA
GO:0045765regulation of angiogenesisBiological ProcessIMP (17404841)
GO:0045762positive regulation of adenylate cyclase activityBiological ProcessISS
GO:0048485sympathetic nervous system developmentBiological ProcessISS
GO:0030336negative regulation of cell migrationBiological ProcessIMP (16648142)
GO:0007420brain developmentBiological ProcessISS
GO:0007406negative regulation of neuroblast proliferationBiological ProcessISS
GO:0007265Ras protein signal transductionBiological ProcessISS
GO:0007165signal transductionBiological ProcessIEA
GO:0001649osteoblast differentiationBiological ProcessISS
GO:0001952regulation of cell-matrix adhesionBiological ProcessISS
GO:0001937negative regulation of endothelial cell proliferationBiological ProcessIMP (17404841)
GO:0001889liver developmentBiological ProcessISS
GO:0001666response to hypoxiaBiological ProcessISS
GO:0007422peripheral nervous system developmentBiological ProcessISS
GO:0007507heart developmentBiological ProcessISS
GO:0008150biological_processBiological ProcessND
GO:0030325adrenal gland developmentBiological ProcessISS
GO:0030199collagen fibril organizationBiological ProcessISS
GO:0030036actin cytoskeleton organization and biogenesisBiological ProcessISS
GO:0022011myelination in the peripheral nervous systemBiological ProcessISS
GO:0021987cerebral cortex developmentBiological ProcessISS
GO:0021897forebrain astrocyte developmentBiological ProcessISS
GO:0021510spinal cord developmentBiological ProcessISS
GO:0014065phosphoinositide 3-kinase cascadeBiological ProcessISS
GO:0008542visual learningBiological ProcessISS
GO:0001656metanephros developmentBiological ProcessISS
Other Database Cross Links
NCBI Entrez Gene:4763
HGNC:7765
Ensembl:ENSG00000196712
MIM:162200
HPRD:01203
HuGE Navigator:4763
dbSNP:NF1
GeneCard:NF1
AceView:NF1