QuickView for NF1 (gene)

Gene Symbol:

NF1 Homo sapiens

Full name:

neurofibromin 1

Synonyms:

NFNS, VRNF, WSS, neurofibromin, neurofibromatosis 1, neurofibromatosis-related protein NF-1, truncated neurofibromin 1

Genomic Location:

Chr 17: 26446121-26728821

Description:

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination....

View Full Description

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GABP_B ,  RTAAACA_FREAC2_01 ,  SMTTTTGT_UNKNOWN ,  CREBP1CJUN_01 ,  CREB_Q4_01 ,  MZF1_01 ,  SREBP1_02 ,  ATF4_Q2 ,  AREB6_04 ,  SREBP1_Q6 ,  CREB_Q4 ,  WHN_B ,  GGGAGGRR_MAZ_Q6 ,  TGAYRTCA_ATF3_Q6 ,  CREBP1_Q2 ,  GTGACGY_E4F1_Q6 ,  ATF_01 ,  GTCAGGA_MIR378 ,  EVI1_05 ,  CREB_02 ,  ATGCTGC_MIR103_MIR107 ,  MGGAAGTG_GABP_B ,  FOXO1_01 ,  NRF1_Q6 ,  YCATTAA_UNKNOWN ,  CETS1P54_01 ,  TTGTTT_FOXO4_01 ,  SCGGAAGY_ELK1_02 ,  NRF2_01 ,  TGACGTCA_ATF3_Q6 ,  TGCACTT_MIR519C_MIR519B_MIR519A ,  RCGCANGCGY_NRF1_Q6 ,  ELK1_02 ,  MZF1_02 ,  GGCKCATGS_UNKNOWN ,  CREB_Q2_01 ,  CEBPGAMMA_Q6 ,  CREB_01 ,  OLF1_01

View More

View Less

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-103 ,  Predicted Gene Targets for miR-378

Cytogenetic Map:

17q11.2

search → result