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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


NF1 neurofibromin 1 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000267 Homo sapiens neurofibromin 1 (NF1), transcript variant 2, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_001042492 Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_001128147 Homo sapiens neurofibromin 1 (NF1), transcript variant 3, mRNA. ORF Sequence $516.78
Peptide Services
Antibody Services
Protein Services


Gene Symbol NF1
Entrez Gene ID 4763
Full Name neurofibromin 1
Synonyms DKFZp686J1293, FLJ21220, NFNS, VRNF, WSS
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q11.2

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 613113

Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile

mRNA Protein Product Sequence Price Select
NM_000267, 270132515 NP_000258, 4557793 neurofibromin isoform 2 Full Length $0.00
ORF Sequence $0.00
NM_001042492, 270132520 NP_001035957, 109826564 neurofibromin isoform 1 Full Length $0.00
ORF Sequence $0.00
NM_001128147, 270132525 NP_001121619, 189458804 neurofibromin isoform 3 Full Length $852.31
ORF Sequence $516.78
KEGG
hsa04010MAPK signaling pathway
Pathway Interaction Database
syndecan_2_pathwaySyndecan-2-mediated signaling events
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
atf2_pathwayATF-2 transcription factor network
WikiPathways
WP2253pilocytic astrocytoma
WP1984Integrated Breast Cancer Pathway
WP382MAPK signaling pathway
WP2261Signaling Pathways in Glioblastoma
Homo sapiens (human)NF1NP_001035957.1
Pan troglodytes (chimpanzee)NF1XP_511395.2
Macaca mulatta (Rhesus monkey)NF1XP_002800429.1
Canis lupus familiaris (dog)NF1XP_537738.3
Mus musculus (house mouse)Nf1NP_035027.1
Rattus norvegicus (Norway rat)Nf1NP_036741.1
Gallus gallus (chicken)NF1XP_415914.2
Danio rerio (zebrafish)nf1bXP_692937.4
Drosophila melanogaster (fruit fly)Nf1NP_733132.2
GeneCards NF1
PDB 1NF1, 3PEG, 3PG7, 3P7Z, 2D4Q, 2E2X
UniProt P21359
MIM 613113
Ensembl ENSG00000196712
HGNC 7765
HPRD 01203

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
neurofibromin
Names
neurofibromin
neurofibromatosis-related protein NF-1

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