NF1 Gene (Protein Coding)

Neurofibromin 1

GC17P031094
GIFtS:
48
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 va... See more...

Aliases for NF1 Gene

Aliases for NF1 Gene

  • Neurofibromin 1 2 3 5
  • Neurofibromatosis-Related Protein NF-1 3 4
  • Neurofibromin 3 4
  • Von Recklinghausen Disease 2
  • Truncated Neurofibromin 1 3
  • Neurofibromatosis 1 3
  • Neurofibromatosis 2
  • Watson Disease 2
  • NFNS 3
  • VRNF 3
  • WSS 3
  • NF1 5

External Ids for NF1 Gene

Previous GeneCards Identifiers for NF1 Gene

  • GC17M029610
  • GC17P031329
  • GC17P029271
  • GC17P029567
  • GC17P026446
  • GC17P029421
  • GC17P025632
  • GC17P031045
  • GC17P031007

Summaries for NF1 Gene

Entrez Gene Summary for NF1 Gene

  • 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]

CIViC Summary for NF1 Gene

GeneCards Summary for NF1 Gene

NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis, Type I and Neurofibromatosis-Noonan Syndrome. Among its related pathways are Neuroscience and RET signaling. Gene Ontology (GO) annotations related to this gene include binding and phosphatidylcholine binding. An important paralog of this gene is RASAL2.

UniProtKB/Swiss-Prot Summary for NF1 Gene

  • Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Gene Wiki entry for NF1 Gene

Additional gene information for NF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NF1 Gene

Genomics for NF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NF1

Top Transcription factor binding sites by QIAGEN in the NF1 gene promoter:
  • AML1a

Genomic Locations for NF1 Gene

Genomic Locations for NF1 Gene
chr17:31,094,927-31,382,116
(GRCh38/hg38)
Size:
287,190 bases
Orientation:
Plus strand
chr17:29,421,945-29,709,134
(GRCh37/hg19)
Size:
287,190 bases
Orientation:
Plus strand

Genomic View for NF1 Gene

Genes around NF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NF1 Gene

Proteins for NF1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for NF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21359-NF1_HUMAN
    Recommended name:
    Neurofibromin
    Protein Accession:
    P21359
    Secondary Accessions:
    • O00662
    • Q14284
    • Q14930
    • Q14931
    • Q9UMK3

    Protein attributes for NF1 Gene

    Size:
    2839 amino acids
    Molecular mass:
    319372 Da
    Quaternary structure:
    • Interacts with HTR6 (PubMed:23027611).
    SequenceCaution:
    • Sequence=AAA59923.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NF1 Gene

    Alternative splice isoforms for NF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NF1 Gene

Protein Expression for NF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NF1 Gene

  • Ubiquitination at Lys1517
  • Modification sites at PhosphoSitePlus

Other Protein References for NF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NF1 Gene

Domains & Families for NF1 Gene

Gene Families for NF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NF1 Gene

InterPro:
Blocks:
  • Ras GTPase-activating protein
  • Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
ProtoNet:

Suggested Antigen Peptide Sequences for NF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54393, highly similar to Neurofibromin (B4DXH1_HUMAN)
  • cDNA FLJ50282, highly similar to Neurofibromin (B4DXP1_HUMAN)
  • Neurofibromin 1 (Neurofibromatosis, von Recklinghausen disease, Watson disease), isoform CRA_a (E1P657_HUMAN)
  • Neurofibromatosis-related protein NF-1 (NF1_HUMAN)
  • NF1 (Q4W6X4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P21359

UniProtKB/Swiss-Prot:

NF1_HUMAN :
  • Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol.
Domain:
  • Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol.
genes like me logo Genes that share domains with NF1: view

Function for NF1 Gene

Products:

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  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for NF1 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
neurofibromin,Ras GTPase activating protein related (280kDa),signal transduction),with at least four alternatively spliced transcripts,with a developmental and tissue specific regulation of expression,also a mRNA editing site in exon 23 creating an in-frame codon stop,putatively involved in suppression of NF1 tumor and in juvenile myelomonocytic leukemia

Phenotypes From GWAS Catalog for NF1 Gene

Gene Ontology (GO) - Molecular Function for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IDA 1568247
GO:0005515 protein binding IPI 11356864
GO:0008289 lipid binding IEA --
GO:0008429 phosphatidylethanolamine binding IDA 17187824
GO:0031210 phosphatidylcholine binding IDA 17187824
genes like me logo Genes that share ontologies with NF1: view
genes like me logo Genes that share phenotypes with NF1: view

Human Phenotype Ontology for NF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NF1 Gene

MGI Knock Outs for NF1:
  • Nf1 Nf1<tm1.1Kest>
  • Nf1 Nf1<tm1Cbr>
  • Nf1 Nf1<tm1Fcr>
  • Nf1 Nf1<tm1Tyj>
  • Nf1 Nf1<tm1d(KOMP)Wtsi>
  • Nf1 Nf1<tm2Tyj>
  • Nf1 Nf1<tm1.1Par>
  • Nf1 Nf1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NF1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NF1 Gene

Localization for NF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NF1 Gene

Nucleus. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NF1 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 3
mitochondrion 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 1550670
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm ISS 1550670
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with NF1: view

Pathways & Interactions for NF1 Gene

PathCards logo

SuperPathways for NF1 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Signaling by PTK6
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
.40
Signaling by PTK6
.40
RAS signaling downstream of NF1 loss-of-function variants
.01
3 MAPK signaling pathway
MAPK signaling pathway
.45
MAPK Signaling Pathway
.45
4 Developmental Biology
Axon guidance
.51
Developmental Biology
.51
5 Cytokine Signaling in Immune system
Cytokine Signaling in Immune system
.69
Signaling by Interleukins
.69
genes like me logo Genes that share pathways with NF1: view

Pathways by source for NF1 Gene

4 GeneGo (Thomson Reuters) pathways for NF1 Gene
  • Development VEGF signaling and activation
  • Development VEGF signaling via VEGFR2 - generic cascades
  • G-protein signaling M-RAS regulation pathway
  • G-protein signaling TC21 regulation pathway
2 Qiagen pathways for NF1 Gene
  • Glioblastoma Multiforme
  • Molecular Mechanisms of Cancer
2 Cell Signaling Technology pathways for NF1 Gene

SIGNOR curated interactions for NF1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade ISS,TAS --
GO:0001649 osteoblast differentiation ISS --
GO:0001656 metanephros development ISS --
GO:0001666 response to hypoxia ISS --
GO:0001889 liver development ISS --
genes like me logo Genes that share ontologies with NF1: view

Drugs & Compounds for NF1 Gene

Products:

  1. Drug

(72) Drugs for NF1 Gene - From: ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trametinib Approved Pharma inhibitor, Biomarker MEK 1/2 inhibitor, MEK Inhibitors, Kinase Inhibitors, Mitogen-activated protein/extracellular signal-regulated kinase (MEK) inhibitors 194
Tyrosine Approved, Investigational Nutra 1044
Aminolevulinic acid Approved Pharma 193
Caffeine Approved Pharma Antagonist, Activator 603
Chlorhexidine Approved, Vet_approved Pharma 731

(14) Additional Compounds for NF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NF1: view

Transcripts for NF1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NF1 Gene

3 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NF1

Alternative Splicing Database (ASD) splice patterns (SP) for NF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - -
SP2:
SP3: -
SP4: -
SP5:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for NF1 Gene

GeneLoc Exon Structure for
NF1

Expression for NF1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NF1 Gene

mRNA expression in normal human tissues for NF1 Gene
mRNA expression by GTEx for NF1 GenemRNA expression by BioGPS for NF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NF1 Gene

This gene is overexpressed in Liver (27.9) and Frontal cortex (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NF1

SOURCE GeneReport for Unigene cluster for NF1 Gene:

Hs.113577

mRNA Expression by UniProt/SwissProt for NF1 Gene:

P21359-NF1_HUMAN
Tissue specificity: Detected in brain, peripheral nerve, lung, colon and muscle.

Evidence on tissue expression from TISSUES for NF1 Gene

  • Kidney(4.7)
  • Liver(4.7)
  • Nervous system(4.6)
  • Pancreas(4.3)
  • Eye(3.6)
  • Intestine(3.6)
  • Heart(3.4)
  • Muscle(3.3)
  • Skin(3.1)
  • Stomach(3)
  • Blood(3)
  • Adrenal gland(3)
  • Thyroid gland(2.9)
  • Lung(2.7)
  • Lymph node(2.7)
  • Bone(2.5)
  • Bone marrow(2.5)
  • Spleen(2.3)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • scalp
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NF1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NF1 Gene

Orthologs for NF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NF1 30 31
  • 99.81 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NF1 31
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NF1 30 31
  • 94.97 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 93 (a)
 OneToMany
-- 31
  • 84 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Nf1 30 17 31
  • 91.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nf1 30
  • 91.33 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia NF1 31
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NF1 30 31
  • 83.83 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 94 (a)
 OneToMany
-- 31
  • 93 (a)
 OneToMany
-- 31
  • 84 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia nf1 30
  • 79.61 (n)
Zebrafish
(Danio rerio)
 Actinopterygii nf1a 31
  • 86 (a)
 OneToMany
nf1b 30 31
  • 74.7 (n)
 OneToMany
wufe06d03 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Nf1 30 31 32
  • 58.13 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003140 30
  • 57.42 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes IRA2 31 33
  • 14 (a)
 OneToMany
IRA1 31
  • 14 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 43 (a)
 OneToMany
-- 31
  • 41 (a)
 OneToMany
Species where no ortholog for NF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NF1 Gene

ENSEMBL:
Gene Tree for NF1 (if available)
TreeFam:
Gene Tree for NF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NF1: view image

Paralogs for NF1 Gene

Paralogs for NF1 Gene

(2) SIMAP similar genes for NF1 Gene using alignment to 17 proteins:

  • NF1_HUMAN
  • B4DXH1_HUMAN
  • B4DXP1_HUMAN
  • H0UIC3_HUMAN
  • H0Y465_HUMAN
  • J3KRT8_HUMAN
  • J3KSB5_HUMAN
  • J3KSX8_HUMAN
  • J3QLS2_HUMAN
  • J3QQN8_HUMAN
  • J3QSG6_HUMAN
  • K7EID4_HUMAN
  • K7EJE7_HUMAN
  • K7ENT2_HUMAN
  • K7EP94_HUMAN
  • Q4W6X4_HUMAN
  • Q9UMU3_HUMAN

Pseudogenes.org Pseudogenes for NF1 Gene

genes like me logo Genes that share paralogs with NF1: view

Variants for NF1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NF1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
217068 Pathogenic: Neurofibromatosis, type 1 31,224,599(+) AGGAATCCAGTAATGA SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
217069 Pathogenic: Neurofibromatosis, type 1 31,225,237(+) GGAACTCCTCTATGGT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
217093 Pathogenic: Neurofibromatosis, type 1 31,333,749(+) TTTGAATGTACTCAGT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
217094 Pathogenic: Neurofibromatosis, type 1 31,334,462(+) AGAGATGAGATGATAC SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
217095 Pathogenic: Neurofibromatosis, type 1 31,333,090(+) TCACTAATAAAAGCCA SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for NF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NF1 Gene

Variant ID Type Subtype PubMed ID
dgv1455n106 CNV deletion 24896259
dgv5520n54 CNV loss 21841781
esv1000588 CNV loss 20482838
esv1001800 CNV loss 20482838
esv21835 CNV loss 19812545
esv25044 CNV gain 19812545
esv2665363 CNV deletion 23128226
esv2715817 CNV deletion 23290073
esv2743057 CNV deletion 23290073
esv29223 CNV loss 19812545
esv3326282 CNV insertion 20981092
esv3554310 CNV deletion 23714750
esv3572542 CNV gain 25503493
esv3640360 CNV loss 21293372
esv3640362 CNV loss 21293372
esv3891 CNV loss 18987735
esv8375 CNV loss 19470904
esv990886 CNV loss 20482838
esv991002 CNV deletion 20482838
nsv1061870 CNV loss 25217958
nsv1070822 CNV deletion 25765185
nsv1151043 CNV deletion 26484159
nsv512483 CNV loss 21212237
nsv514834 CNV gain 21397061
nsv514835 CNV gain 21397061
nsv522495 CNV loss 19592680
nsv574667 CNV loss 21841781
nsv574668 CNV loss 21841781
nsv574669 CNV loss 21841781
nsv574670 CNV gain 21841781
nsv574671 CNV gain 21841781
nsv827944 CNV loss 20364138
nsv827945 CNV gain 20364138
nsv833413 CNV gain+loss 17160897
nsv953876 CNV duplication 24416366
nsv960089 CNV duplication 23825009
nsv960460 CNV duplication 23825009
nsv960461 CNV duplication 23825009
nsv960462 CNV duplication 23825009
nsv962306 CNV duplication 23825009
nsv962307 CNV duplication 23825009
nsv978407 CNV duplication 23825009

Variation tolerance for NF1 Gene

Residual Variation Intolerance Score: 0.205% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NF1 Gene

Human Gene Mutation Database (HGMD)
NF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NF1 Gene

Disorders for NF1 Gene

MalaCards: The human disease database

(200) MalaCards diseases for NF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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Search NF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NF1_HUMAN
  • Neurofibromatosis 1 (NF1) [MIM:162200]: 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. {ECO:0000269 PubMed:10220149, ECO:0000269 PubMed:10336779, ECO:0000269 PubMed:10607834, ECO:0000269 PubMed:10712197, ECO:0000269 PubMed:10980545, ECO:0000269 PubMed:11258625, ECO:0000269 PubMed:11735023, ECO:0000269 PubMed:11857752, ECO:0000269 PubMed:12522551, ECO:0000269 PubMed:12552569, ECO:0000269 PubMed:12746402, ECO:0000269 PubMed:1302608, ECO:0000269 PubMed:15060124, ECO:0000269 PubMed:15146469, ECO:0000269 PubMed:15520408, ECO:0000269 PubMed:15523642, ECO:0000269 PubMed:15948193, ECO:0000269 PubMed:17160901, ECO:0000269 PubMed:21089070, ECO:0000269 PubMed:2114220, ECO:0000269 PubMed:21838856, ECO:0000269 PubMed:23758643, ECO:0000269 PubMed:24413922, ECO:0000269 PubMed:7981679, ECO:0000269 PubMed:8081387, ECO:0000269 PubMed:8544190, ECO:0000269 PubMed:8807336, ECO:0000269 PubMed:8834249, ECO:0000269 PubMed:9003501, ECO:0000269 PubMed:9101300, ECO:0000269 PubMed:9150739, ECO:0000269 PubMed:9298829, ECO:0000269 PubMed:9668168}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Watson syndrome (WTSN) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. {ECO:0000269 PubMed:11704931}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: 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. {ECO:0000269 PubMed:12707950, ECO:0000269 PubMed:16380919, ECO:0000269 PubMed:19845691}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.

Genatlas disease for NF1 Gene

neurofibromatosis 1 (von Recklinghausen disease),characterized by café au lait spots,axillary freckling,Lisch nodules of the iris,multiple neurofibromas,tibial pseudarthrosis and a predisposition to certain benign and malignant tumors of the central and peripheral nervous system,with a variable expression even among relatives with the same mutation and apparently an earlier onset or a more severe form associated with deletions,including neurofibrosarcoma (see TSG17C),Watson disease (café au lait spots with pulmonic stenosis)

Additional Disease Information for NF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)