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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. NF1, Neurofibromin 1
Sequence ID:NM_001042492
NM_000267
NM_001128147
RefSeqGene ID:NG_009018
Entrez Gene ID:4763
Ensembl ID:ENSG00000196712

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, pineal gland, placenta, pooled tissue, prostate, retina, skin, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
LEUKEMIA, JUVENILE MYELOMONOCYTICARHGAP26
PTPN11
NEUROFIBROMATOSIS, FAMILIAL SPINAL 
NEUROFIBROMATOSIS, TYPE 1MSH2
NEUROFIBROMATOSIS-NOONANSYNDROME 
WATSON SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:17q11.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:17: 29552100 - 29658922

 Exon Info From UCSC:
NM_001042492
NM_000267
NM_001128147

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
9094286IncompleteBC172193neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
9094293IncompleteBC172192neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000258  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000267 NP_000258   RasGAP
NM_001042492 NP_001035957 P21359  
NM_001128147 NP_001121619    

Related Sequences

 
mRNAGenPeptSwissProt
M60915 AAA59921 P21359
M60915 AAA59922 P21359
M61213 AAA59923 P21359
M82814 AAA59924 P21359
M89914 AAA59925 P21359
M60496 AAA59928 P21359
M38106 AAA74897 P21359
S51751 AAB24636 P21359
M38107 AAB59558 P21359
D10490 BAA01371 P21359
D12625 BAA02150 P21359
D42072 BAA07669 P21359
AB209336 BAD92573 Q59FX3
AK289936 BAF82625 A8K1M1
AK301970 BAG63383 B4DXH1
AK302063 BAG63453 B4DXP1
BX537850 CAD97858 Q7Z3J5

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens NF1 NP_001035957 R.norvegicus Nf1 24592   NP_036741 99
M.musculus Nf1 18015 Gene Info NP_035027 98
A.gambiae AgaP_AGAP003140 1273814   XP_312829 62
D.melanogaster Nf1 43149   NP_733132 60
N.crassa NCU01642 3872419   XP_956264 32

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta