Human Gene NF1 (uc002hgi.1)
Description: Homo sapiens neurofibromin 1 (NF1), transcript variant 2, mRNA.
RefSeq Summary (NM_000267): 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].
Transcript (Including UTRs)
Position: hg19 chr17:29,552,101-29,658,922 Size: 106,822 Total Exon Count: 21 Strand: +
Coding Region
Position: hg19 chr17:29,556,904-29,657,524 Size: 100,621 Coding Exon Count: 17
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NF1
CDC HuGE Published Literature: NF1
Positive Disease Associations: aberrant splicing
, autism
, intestinal neuronal dysplasia type B (IND B)
, Leukemia, Myeloid, Acute
, neurofibromatosis 1
Related Studies: aberrant splicing Messiaen LM et al. 1999, Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing., Genetics in medicine. 1999 Sep-Oct;1(6):248-53.
[PubMed 11258625 ]
As exon 10b shows the highest mutation rate yet found in any of the 60 NF1 exons, it should be implemented with priority in mutation analysis.
autism Marui, T. et al. 2004, Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population., American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):43-7.
[PubMed 15389774 ]
This may suggest an involvement of the NF1 locus in susceptibility to autism, although further investigations are recommended.
intestinal neuronal dysplasia type B (IND B) Bahuau M et al. 2000, Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B), Journal of medical genetics. 2000 Feb;37(2):146-50.
[PubMed 10712107 ]
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MalaCards Disease Associations
MalaCards Gene Search: NF1
Diseases sorted by gene-association score: neurofibromatosis, type 1 * (1715), neurofibromatosis-noonan syndrome * (1700), neurofibromatosis, familial spinal * (1300), watson syndrome * (1048), juvenile myelomonocytic leukemia * (924), neurofibroma * (440), autosomal dominant café au lait spots * (419), cafe-au-lait spots, multiple * (400), legius syndrome * (303), juvenile myelomonocytic leukemia, somatic nf1-related * (100), chromosome 17q11.2 deletion syndrome, 1.4-mb * (42), plexiform neurofibroma (38), neurofibrosarcoma (32), pulmonic stenosis (28), nervous system cancer (28), malignant peripheral nerve sheath tumor (24), elephantiasis (23), optic pathway glioma (18), neurilemmoma (18), pseudoarthrosis (18), optic nerve neoplasm (17), pulsating exophthalmos (16), atypical neurofibroma (16), cellular schwannoma (16), vagus nerve neoplasm (15), equatorial staphyloma (15), adult malignant schwannoma (15), autosomal genetic disease (14), neurofibromatosis, type 2 (12), tuberous sclerosis (11), schwannomatosis (11), peripheral nervous system neoplasm (11), pilocytic astrocytoma (11), malignant glandular tumor of peripheral nerve sheath (11), leopard syndrome (11), orbit embryonal rhabdomyosarcoma (10), paraganglioma (10), orbit rhabdomyosarcoma (10), nervous system benign neoplasm (10), astrocytoma (10), ectropion (10), renovascular hypertension (9), intracranial berry aneurysm (9), myelodysplastic syndrome (8), myelodysplastic myeloproliferative cancer (8), malignant triton tumor (8), gliofibroma (8), meningocele (8), von hippel-lindau syndrome (8), phaeochromocytoma (8), childhood pilocytic astrocytoma (8), plexiform schwannoma (8), multiple endocrine neoplasia (7), adult oligodendroglioma (7), pheochromocytoma (7), frey syndrome (7), tolosa-hunt syndrome (7), sporadic pheochromocytoma (7), giant cell reparative granuloma (6), bone structure disease (6), multiple endocrine neoplasia iia (6), osteofibrous dysplasia (6), noonan syndrome 1 (6), scleral staphyloma (6), epithelioid malignant peripheral nerve sheath tumor (6), juvenile pilocytic astrocytoma (6), expressive language disorder (6), chromosome 6pter-p24 deletion syndrome (6), obstructive hydrocephalus (6), pilocytic astrocytoma of cerebellum (6), inflammatory leiomyosarcoma (6), conventional leiomyosarcoma (6), cerebral arterial disease (6), immature cataract (6), optic nerve glioma (5), duodenal somatostatinoma (5), exophthalmos (5), li-fraumeni syndrome (5), malignant spindle cell melanoma (5), subclavian artery aneurysm (5), amyloid tumor (5), chronic polyneuropathy (4), pleomorphic lipoma (4), glaucoma 3a, primary open angle, congenital, juvenile, or adult onset (4), internuclear ophthalmoplegia (4), spinal canal and spinal cord meningioma (4), intraneural perineurioma (4), poland syndrome (4), hypotropia (4), basal cell nevus syndrome (4), spinal cord ependymoma (4), lung sarcoma (4), spinal meningioma (4), nephrogenic adenofibroma (4), brachial plexus lesion (4), brain germinoma (3), gastrointestinal stromal tumor (3), bone marrow cancer (3), colorectal cancer (3), autistic disorder (2), breast cancer (2), autosomal dominant disease (2), meningioma, familial (2), multiple endocrine neoplasia 1 (1), organ system benign neoplasm (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR001251 - CRAL-TRIO_dom
IPR001936 - RasGAP
IPR023152 - RasGAP_CS
IPR008936 - Rho_GTPase_activation_prot
Pfam Domains: PF00616 - GTPase-activator protein for Ras-like GTPase
PF13716 - Divergent CRAL/TRIO domain
SCOP Domains: 48350 - GTPase activation domain, GAP
52087 - CRAL/TRIO domain
ModBase Predicted Comparative 3D Structure on Q59FX3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
LF384773 - JP 2014500723-A/192276: Polycomb-Associated Non-Coding RNAs.M82814 - Homo sapiens GAP-related protein (NF1) mRNA, complete cds.M89914 - Human neurofibromin (NF1) gene, complete cds.BC144643 - Homo sapiens cDNA clone IMAGE:9053174.BC172192 - Synthetic construct Homo sapiens clone IMAGE:9094293 neurofibromin isoform 2 (NF1) gene, partial cds.BX537850 - Homo sapiens mRNA; cDNA DKFZp686J1293 (from clone DKFZp686J1293).M38106 - Human neurofibromatosis protein type 1 mRNA, 3' end of cds.M38107 - Human neurofibromatosis type 1 (NF-1) mRNA, 3' end of cds.AB209336 - Homo sapiens mRNA for neurofibromin variant protein.MA620350 - JP 2018138019-A/192276: Polycomb-Associated Non-Coding RNAs.LF326874 - JP 2014500723-A/134377: Polycomb-Associated Non-Coding RNAs.LF326875 - JP 2014500723-A/134378: Polycomb-Associated Non-Coding RNAs.LF326878 - JP 2014500723-A/134381: Polycomb-Associated Non-Coding RNAs.JD563519 - Sequence 544543 from Patent EP1572962.JD171226 - Sequence 152250 from Patent EP1572962.LF326880 - JP 2014500723-A/134383: Polycomb-Associated Non-Coding RNAs.M61213 - Human neurofibromatosis type 1 (NF1) mRNA, complete cds.M60915 - Human neurofibromatosis protein type I (NF1) mRNA, complete cds.LF326881 - JP 2014500723-A/134384: Polycomb-Associated Non-Coding RNAs.LF326883 - JP 2014500723-A/134386: Polycomb-Associated Non-Coding RNAs.LF326884 - JP 2014500723-A/134387: Polycomb-Associated Non-Coding RNAs.LF326885 - JP 2014500723-A/134388: Polycomb-Associated Non-Coding RNAs.MA562451 - JP 2018138019-A/134377: Polycomb-Associated Non-Coding RNAs.MA562452 - JP 2018138019-A/134378: Polycomb-Associated Non-Coding RNAs.MA562455 - JP 2018138019-A/134381: Polycomb-Associated Non-Coding RNAs.MA562457 - JP 2018138019-A/134383: Polycomb-Associated Non-Coding RNAs.MA562458 - JP 2018138019-A/134384: Polycomb-Associated Non-Coding RNAs.MA562460 - JP 2018138019-A/134386: Polycomb-Associated Non-Coding RNAs.MA562461 - JP 2018138019-A/134387: Polycomb-Associated Non-Coding RNAs.MA562462 - JP 2018138019-A/134388: Polycomb-Associated Non-Coding RNAs.BC172193 - Synthetic construct Homo sapiens clone IMAGE:9094286 neurofibromin isoform 2 (NF1) gene, partial cds.LF326892 - JP 2014500723-A/134395: Polycomb-Associated Non-Coding RNAs.LF326893 - JP 2014500723-A/134396: Polycomb-Associated Non-Coding RNAs.JD144690 - Sequence 125714 from Patent EP1572962.JD142584 - Sequence 123608 from Patent EP1572962.JD222944 - Sequence 203968 from Patent EP1572962.JD152565 - Sequence 133589 from Patent EP1572962.JD497899 - Sequence 478923 from Patent EP1572962.JD543587 - Sequence 524611 from Patent EP1572962.JD543588 - Sequence 524612 from Patent EP1572962.JD543589 - Sequence 524613 from Patent EP1572962.JD479154 - Sequence 460178 from Patent EP1572962.JD479155 - Sequence 460179 from Patent EP1572962.JD407778 - Sequence 388802 from Patent EP1572962.JD479156 - Sequence 460180 from Patent EP1572962.JD092085 - Sequence 73109 from Patent EP1572962.JD534746 - Sequence 515770 from Patent EP1572962.JD366257 - Sequence 347281 from Patent EP1572962.MA562469 - JP 2018138019-A/134395: Polycomb-Associated Non-Coding RNAs.MA562470 - JP 2018138019-A/134396: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04010 - MAPK signaling pathway
BioCarta from NCI Cancer Genome Anatomy Project h_hSWI-SNFpathway - Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes
Other Names for This Gene
Alternate Gene Symbols: AB209336, NM_000267, NP_000258, Q59FX3, Q59FX3_HUMANUCSC ID: uc002hgi.1RefSeq Accession: NM_000267
Protein: Q59FX3
GeneReviews for This Gene
GeneReviews article(s) related to gene NF1:nf1 (Neurofibromatosis 1)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
AB209336.1
exon count:
21 CDS single in 3' UTR:
no
RNA size:
5691
ORF size:
2856 CDS single in intron:
no
Alignment % ID:
99.98
txCdsPredict score:
4573.50 frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
yes
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
1418 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.