Human Gene NF1 (ENST00000356175.7)
  Description: Homo sapiens neurofibromin 1 (NF1), transcript variant 2, mRNA. (from RefSeq NM_000267)
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].
Gencode Transcript: ENST00000356175.7
Gencode Gene: ENSG00000196712.18
Transcript (Including UTRs)
   Position: hg38 chr17:31,094,927-31,377,677 Size: 282,751 Total Exon Count: 57 Strand: +
Coding Region
   Position: hg38 chr17:31,095,310-31,374,155 Size: 278,846 Coding Exon Count: 57 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:31,094,927-31,377,677)mRNA (may differ from genome)Protein (2818 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGImyGene2neXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NF1_HUMAN
DESCRIPTION: RecName: Full=Neurofibromin; AltName: Full=Neurofibromatosis-related protein NF-1; Contains: RecName: Full=Neurofibromin truncated;
FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
INTERACTION: P05067:APP; NbExp=3; IntAct=EBI-1172917, EBI-77613; P34741:SDC2; NbExp=4; IntAct=EBI-1172917, EBI-1172957;
RNA EDITING: Modified_positions=1306; Note=The stop codon (UGA) at position 1306 is created by RNA editing. Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1. Preferentially observed in transcripts containing exon 23A.
DISEASE: Defects in NF1 are the cause of neurofibromatosis type 1 (NF1) [MIM:162200]; also known as von Recklinghausen syndrome. A disease characterized by patches of skin pigmentation (cafe-au- lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.
DISEASE: Defects in NF1 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Germline mutations of NF1 account for the association of JMML with type 1 neurofibromatosis (NF1).
DISEASE: Defects in NF1 are the cause of Watson syndrome (WS) [MIM:193520]. WS is characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. WS is considered as an atypical form of NF1.
DISEASE: Defects in NF1 are a cause of familial spinal neurofibromatosis (FSNF) [MIM:162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.
DISEASE: Defects in NF1 are a cause of neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]. NFNS is characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.
DISEASE: Defects in NF1 may be a cause of colorectal cancer (CRC) [MIM:114500].
SIMILARITY: Contains 1 CRAL-TRIO domain.
SIMILARITY: Contains 1 Ras-GAP domain.
CAUTION: Was originally (PubMed:8807336) thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.
SEQUENCE CAUTION: Sequence=AAA59923.1; Type=Erroneous initiation;
WEB RESOURCE: Name=NF1 Genetic Mutation Analysis Consortium; URL="http://www.upmc.edu/Neurofibro/NNFFconsortium.htm";
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NF1ID134.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NF1";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nf1/";
WEB RESOURCE: Name=Mendelian genes neurofibromin 1 (NF1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/NF1";

-  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)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.13 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 208.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -150.60383-0.393 Picture PostScript Text
3' UTR -817.703522-0.232 Picture PostScript Text

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
IPR016024 - ARM-type_fold
IPR001251 - CRAL-TRIO_dom
IPR001936 - RasGAP
IPR023152 - RasGAP_CS
IPR008936 - Rho_GTPase_activation_prot

Pfam Domains:
PF00616 - GTPase-activator protein for Ras-like GTPase

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1NF1
- X-ray MuPIT

2D4Q
- X-ray MuPIT

2E2X
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
3P7Z - X-ray MuPIT 3PEG - X-ray MuPIT 3PG7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P21359
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGD Ensembl SGD
Protein SequenceProtein Sequence Protein Sequence Protein Sequence
AlignmentAlignment Alignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0008429 phosphatidylethanolamine binding
GO:0031210 phosphatidylcholine binding

Biological Process:
GO:0000165 MAPK cascade
GO:0001649 osteoblast differentiation
GO:0001656 metanephros development
GO:0001666 response to hypoxia
GO:0001889 liver development
GO:0001937 negative regulation of endothelial cell proliferation
GO:0001938 positive regulation of endothelial cell proliferation
GO:0001952 regulation of cell-matrix adhesion
GO:0001953 negative regulation of cell-matrix adhesion
GO:0006469 negative regulation of protein kinase activity
GO:0007154 cell communication
GO:0007165 signal transduction
GO:0007265 Ras protein signal transduction
GO:0007406 negative regulation of neuroblast proliferation
GO:0007420 brain development
GO:0007422 peripheral nervous system development
GO:0007507 heart development
GO:0007519 skeletal muscle tissue development
GO:0008285 negative regulation of cell proliferation
GO:0008542 visual learning
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0010468 regulation of gene expression
GO:0014044 Schwann cell development
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0016525 negative regulation of angiogenesis
GO:0021510 spinal cord development
GO:0021764 amygdala development
GO:0021897 forebrain astrocyte development
GO:0021915 neural tube development
GO:0021987 cerebral cortex development
GO:0022011 myelination in peripheral nervous system
GO:0030036 actin cytoskeleton organization
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030325 adrenal gland development
GO:0030336 negative regulation of cell migration
GO:0032228 regulation of synaptic transmission, GABAergic
GO:0034605 cellular response to heat
GO:0035021 negative regulation of Rac protein signal transduction
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0042308 negative regulation of protein import into nucleus
GO:0043065 positive regulation of apoptotic process
GO:0043087 regulation of GTPase activity
GO:0043407 negative regulation of MAP kinase activity
GO:0043408 regulation of MAPK cascade
GO:0043409 negative regulation of MAPK cascade
GO:0043473 pigmentation
GO:0043525 positive regulation of neuron apoptotic process
GO:0043535 regulation of blood vessel endothelial cell migration
GO:0043547 positive regulation of GTPase activity
GO:0045124 regulation of bone resorption
GO:0045671 negative regulation of osteoclast differentiation
GO:0045685 regulation of glial cell differentiation
GO:0045762 positive regulation of adenylate cyclase activity
GO:0045765 regulation of angiogenesis
GO:0046580 negative regulation of Ras protein signal transduction
GO:0046929 negative regulation of neurotransmitter secretion
GO:0048147 negative regulation of fibroblast proliferation
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0048485 sympathetic nervous system development
GO:0048593 camera-type eye morphogenesis
GO:0048712 negative regulation of astrocyte differentiation
GO:0048715 negative regulation of oligodendrocyte differentiation
GO:0048745 smooth muscle tissue development
GO:0048820 hair follicle maturation
GO:0048844 artery morphogenesis
GO:0048853 forebrain morphogenesis
GO:0050890 cognition
GO:0061534 gamma-aminobutyric acid secretion, neurotransmission
GO:0061535 glutamate secretion, neurotransmission
GO:0098597 observational learning
GO:1900271 regulation of long-term synaptic potentiation
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  D12625 - Homo sapiens mRNA for NF1 protein isoform, complete cds.
LF384773 - JP 2014500723-A/192276: Polycomb-Associated Non-Coding RNAs.
MA620350 - JP 2018138019-A/192276: Polycomb-Associated Non-Coding RNAs.
AK289936 - Homo sapiens cDNA FLJ76650 complete cds, highly similar to Human mRNA for NF1 N-isoform-exon11.
M82814 - Homo sapiens GAP-related protein (NF1) mRNA, complete cds.
M89914 - Human neurofibromin (NF1) gene, complete cds.
BC144643 - Homo sapiens cDNA clone IMAGE:9053174.
D42072 - Homo sapiens mRNA for NF1 N-isoform-exon11, complete cds.
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.
BC172193 - Synthetic construct Homo sapiens clone IMAGE:9094286 neurofibromin isoform 2 (NF1) gene, partial cds.
JD380294 - Sequence 361318 from Patent EP1572962.
JD391439 - Sequence 372463 from Patent EP1572962.
JD390223 - Sequence 371247 from Patent EP1572962.
JD470695 - Sequence 451719 from Patent EP1572962.
JD153917 - Sequence 134941 from Patent EP1572962.
JD099427 - Sequence 80451 from Patent EP1572962.
JD415997 - Sequence 397021 from Patent EP1572962.
LF326870 - JP 2014500723-A/134373: Polycomb-Associated Non-Coding RNAs.
MA562447 - JP 2018138019-A/134373: Polycomb-Associated Non-Coding RNAs.
LF326871 - JP 2014500723-A/134374: Polycomb-Associated Non-Coding RNAs.
MA562448 - JP 2018138019-A/134374: Polycomb-Associated Non-Coding RNAs.
LF326874 - JP 2014500723-A/134377: Polycomb-Associated Non-Coding RNAs.
MA562451 - JP 2018138019-A/134377: Polycomb-Associated Non-Coding RNAs.
LF326875 - JP 2014500723-A/134378: Polycomb-Associated Non-Coding RNAs.
MA562452 - JP 2018138019-A/134378: Polycomb-Associated Non-Coding RNAs.
LF326878 - JP 2014500723-A/134381: Polycomb-Associated Non-Coding RNAs.
MA562455 - JP 2018138019-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.
MA562457 - JP 2018138019-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.
MA562458 - JP 2018138019-A/134384: Polycomb-Associated Non-Coding RNAs.
LF326883 - JP 2014500723-A/134386: Polycomb-Associated Non-Coding RNAs.
MA562460 - JP 2018138019-A/134386: Polycomb-Associated Non-Coding RNAs.
LF326884 - JP 2014500723-A/134387: Polycomb-Associated Non-Coding RNAs.
MA562461 - JP 2018138019-A/134387: Polycomb-Associated Non-Coding RNAs.
LF326885 - JP 2014500723-A/134388: Polycomb-Associated Non-Coding RNAs.
MA562462 - JP 2018138019-A/134388: Polycomb-Associated Non-Coding RNAs.
LF326892 - JP 2014500723-A/134395: Polycomb-Associated Non-Coding RNAs.
MA562469 - JP 2018138019-A/134395: Polycomb-Associated Non-Coding RNAs.
LF326893 - JP 2014500723-A/134396: Polycomb-Associated Non-Coding RNAs.
MA562470 - JP 2018138019-A/134396: Polycomb-Associated Non-Coding RNAs.
S73017 - Homo sapiens neurofibromin 1 (NF1) mRNA, partial cds.
LF326895 - JP 2014500723-A/134398: Polycomb-Associated Non-Coding RNAs.
MA562472 - JP 2018138019-A/134398: Polycomb-Associated Non-Coding RNAs.
DQ588844 - Homo sapiens piRNA piR-55956, complete sequence.
LF326897 - JP 2014500723-A/134400: Polycomb-Associated Non-Coding RNAs.
MA562474 - JP 2018138019-A/134400: Polycomb-Associated Non-Coding RNAs.
AK302063 - Homo sapiens cDNA FLJ50282 complete cds, highly similar to Neurofibromin.
AK301970 - Homo sapiens cDNA FLJ54393 complete cds, highly similar to Neurofibromin.
M60496 - Human neurofibromatosis protein type 1 (NF1) mRNA, 3' end.
LF326899 - JP 2014500723-A/134402: Polycomb-Associated Non-Coding RNAs.
MA562476 - JP 2018138019-A/134402: Polycomb-Associated Non-Coding RNAs.
BX648717 - Homo sapiens mRNA; cDNA DKFZp686N19113 (from clone DKFZp686N19113).
LF326902 - JP 2014500723-A/134405: Polycomb-Associated Non-Coding RNAs.
MA562479 - JP 2018138019-A/134405: Polycomb-Associated Non-Coding RNAs.
LF326903 - JP 2014500723-A/134406: Polycomb-Associated Non-Coding RNAs.
MA562480 - JP 2018138019-A/134406: Polycomb-Associated Non-Coding RNAs.
JD211755 - Sequence 192779 from Patent EP1572962.
LF326904 - JP 2014500723-A/134407: Polycomb-Associated Non-Coding RNAs.
MA562481 - JP 2018138019-A/134407: Polycomb-Associated Non-Coding RNAs.
LF326905 - JP 2014500723-A/134408: Polycomb-Associated Non-Coding RNAs.
MA562482 - JP 2018138019-A/134408: Polycomb-Associated Non-Coding RNAs.
JA455880 - Sequence 36 from Patent EP2326730.
LF326906 - JP 2014500723-A/134409: Polycomb-Associated Non-Coding RNAs.
MA562483 - JP 2018138019-A/134409: Polycomb-Associated Non-Coding RNAs.
LF326907 - JP 2014500723-A/134410: Polycomb-Associated Non-Coding RNAs.
MA562484 - JP 2018138019-A/134410: Polycomb-Associated Non-Coding RNAs.
JA455876 - Sequence 32 from Patent EP2326730.
LF326908 - JP 2014500723-A/134411: Polycomb-Associated Non-Coding RNAs.
MA562485 - JP 2018138019-A/134411: Polycomb-Associated Non-Coding RNAs.
AK026658 - Homo sapiens cDNA: FLJ23005 fis, clone LNG00396, highly similar to AF055023 Homo sapiens clone 24723 mRNA sequence.
JA455878 - Sequence 34 from Patent EP2326730.
AF055023 - Homo sapiens clone 24723 mRNA sequence.
JD020284 - Sequence 1308 from Patent EP1572962.
JD032150 - Sequence 13174 from Patent EP1572962.
AF086346 - Homo sapiens full length insert cDNA clone ZD61H02.

-  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

Reactome (by CSHL, EBI, and GO)

Protein P21359 (Reactome details) participates in the following event(s):

R-HSA-5658438 SPRED dimer binds NF1
R-HSA-5658424 KBTBD7:CUL3:RBX1 ubiquitinates NF1
R-HSA-5658435 RAS GAPs bind RAS:GTP
R-HSA-5658231 RAS GAPs stimulate RAS GTPase activity
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6802953 RAS signaling downstream of NF1 loss-of-function variants
R-HSA-6802949 Signaling by RAS mutants
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-5663202 Diseases of signal transduction
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000356175.1, ENST00000356175.2, ENST00000356175.3, ENST00000356175.4, ENST00000356175.5, ENST00000356175.6, NF1_HUMAN, NM_000267, O00662, P21359, Q14284, Q14930, Q14931, Q9UMK3, uc002hgh.1, uc002hgh.2, uc002hgh.3
UCSC ID: ENST00000356175.7
RefSeq Accession: NM_000267
Protein: P21359 (aka NF1_HUMAN)
CCDS: CCDS11264.1, CCDS42292.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NF1:
wilms-ov (Wilms Tumor Predisposition)
nf1 (Neurofibromatosis 1)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.