Aliases for NF1 Gene
Aliases for NF1 Gene
External Ids for NF1 Gene
- HGNC: 7765
- Entrez Gene: 4763
- Ensembl: ENSG00000196712
- OMIM: 613113
- UniProtKB: P21359
Previous GeneCards Identifiers for NF1 Gene
- GC17M029610
- GC17P031329
- GC17P029271
- GC17P029567
- GC17P026446
- GC17P029421
- GC17P025632
Summaries 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]
GeneCards Summary for NF1 Gene
NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis-Noonan Syndrome and Neurofibromatosis, Type I. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include binding and phosphatidylcholine binding.
UniProtKB/Swiss-Prot 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.
Additional gene information for NF1 Gene
- Monarch Initiative
- Search for NF1 at DataMed
- Search for NF1 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NF1 Gene
Genomics for NF1 Gene
GeneHancer (GH) Regulatory Elements for NF1 Gene
Promoters and enhancers for NF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around NF1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NF1 gene promoter:
Regulatory Element Products
Genomic Locations for NF1 Gene
Genomic Locations for NF1 Gene
- chr17:31,007,873-31,382,116
- (GRCh38/hg38)
- Size:
- 374,244 bases
- Orientation:
- Plus strand
- chr17:29,421,945-29,709,134
- (GRCh37/hg19)
Genomic View for NF1 Gene
Genes around NF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q11.2 by Ensembl
- 17q11.2 by Entrez Gene
- 17q11.2 by HGNC
NF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NF1 Gene
Proteins for NF1 Gene
-
Protein details for NF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P21359-NF1_HUMAN
- Recommended name:
- Neurofibromin
- Protein Accession:
- P21359
- 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=Translation N-terminally extended.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for NF1 Gene
Protein Expression for NF1 Gene
Post-translational modifications for NF1 Gene
Other Protein References for NF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for NF1
- Novus Biologicals Antibodies for NF1
-
Abcam antibodies for NF1
- Invitrogen Antibodies for NF1
- antibodies-online: Search results for 124 available Neurofibromin 1 Antibodies ranked by validation data
- Compare Top Neurofibromin 1 Antibodies
-
Recommended
- 1 IP Antibody (anti-mouse)
- 15 IHC (p) Antibodies (anti-mouse)
- 36 IF (p) Antibodies (anti-mouse)
- 45 WB Antibodies (anti-mouse)
- 1 IP Antibody (anti-rat)
- 15 IHC (p) Antibodies (anti-rat)
- 36 IF (p) Antibodies (anti-rat)
- 44 WB Antibodies (anti-rat)
- 1 IP Antibody (anti-human)
- 1 EIA Antibody (anti-human)
- 16 IHC (p) Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 59 WB Antibodies (anti-human)
- GeneTex NF1 antibody for NF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for NF1
Protein Products
-
OriGene Purified Proteins for NF1
- Search Origene for MassSpec and Protein Over-expression Lysates for NF1
- Origene Custom Protein Services for NF1
- Search GeneTex for Proteins for NF1
Assay Products
No data available for DME Specific Peptides for NF1 Gene
Domains & Families for NF1 Gene
Gene Families for NF1 Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for NF1 Gene
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
P21359UniProtKB/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.
Function for NF1 Gene
Molecular function for NF1 Gene
- 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
- 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.
Phenotypes From GWAS Catalog 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 |
Phenotypes for NF1 Gene
- MGI mutant phenotypes for NF1:
-
inferred from 8 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for NF1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Decreased cell migration
- Increased cell number in S
- Increased cell migration
- Increased shRNA abundance with PLX4720
- Decreased sensitivity to paclitaxel
Animal Models for NF1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NF1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for NF1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NF1 gene
- Search ViGene Biosciences for NF1
CRISPR Products
-
OriGene CRISPR knockouts for NF1
- Applied Biological Materials CRISPR for NF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NF1
- GenScript: Design CRISPR guide RNA sequences for NF1
miRNA for NF1 Gene
- miRTarBase miRNAs that target NF1
-
- hsa-mir-10b-5p (MIRT005504)
- hsa-mir-370-3p (MIRT007052)
- hsa-mir-20a-3p (MIRT038968)
- hsa-mir-193b-3p (MIRT041324)
- hsa-let-7e-5p (MIRT051457)
- hsa-mir-9-5p (MIRT053794)
- hsa-mir-19a-3p (MIRT145462)
- hsa-mir-19b-3p (MIRT145463)
- hsa-mir-193a-3p (MIRT145468)
- hsa-mir-374a-5p (MIRT440123)
- hsa-mir-27b-3p (MIRT727088)
- hsa-mir-27a-3p (MIRT727089)
- hsa-mir-107 (MIRT733567)
- hsa-mir-514a-5p (MIRT734433)
miRNA Products
- Search ViGene Biosciences for NF1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for NF1
- Browse OriGene Inhibitory RNA Products For NF1
- genomics-online: shRNA clones - Search results for 64 available Neurofibromin 1 gene related products
- Overview of 64 available Neurofibromin 1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NF1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for NF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NF1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for NF1
- genomics-online: cdna clones - Search results for 64 available Neurofibromin 1 gene related products
- Overview of 64 available Neurofibromin 1 gene related products
- orf clones - Search results for 64 available Neurofibromin 1 gene related products
- Overview of 64 available Neurofibromin 1 gene related products
- Applied Biological Materials Clones for NF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NF1
-
ViGene Biosciences adenoviral particle packaged cDNA for NF1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for NF1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NF1 gene
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| mitochondrion | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 1 |
- Mitochondria (2)
| 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 |
Pathways & Interactions for NF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Signaling by PTK6 | ||
| 3 | Endometrial cancer | ||
| 4 | MAPK signaling pathway | ||
| 5 | Developmental Biology |
.51
|
|
Pathways by source for NF1 Gene
8 BioSystems pathways for NF1 Gene
54 Reactome pathways for NF1 Gene
3 KEGG pathways for NF1 Gene
4 GeneGo (Thomson Reuters) pathways for NF1 Gene
2 Qiagen pathways for NF1 Gene
2 Cell Signaling Technology pathways for NF1 Gene
Interacting Proteins for NF1 Gene
Selected Interacting proteins:
ENSP00000351015
P21359-NF1_HUMAN
for NF1 Gene via
STRING
MINT
UniProtKB
IID
SIGNOR curated interactions for NF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0001649 | osteoblast differentiation | ISS | -- |
| GO:0001656 | metanephros development | ISS | -- |
| GO:0001666 | response to hypoxia | ISS | -- |
| GO:0001889 | liver development | ISS | -- |
Drugs & Compounds for NF1 Gene
| 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 | 151 | |
| Aminolevulinic acid | Approved | Pharma | 170 | |||
| Chlorhexidine | Approved, Vet_approved | Pharma | 545 | |||
| Everolimus | Approved | Pharma | mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors | 2011 | ||
| Lamotrigine | Approved, Investigational | Pharma | 5-HT inhibitor | 189 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for NF1 Gene
mRNA/cDNA for NF1 Gene
- (13) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (299) Selected AceView cDNA sequences:
- (23) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for NF1 Gene
- Neurofibromin 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for NF1
- Applied Biological Materials CRISPR for NF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NF1
- GenScript: Design CRISPR guide RNA sequences for NF1
miRNA Products
- Search ViGene Biosciences for NF1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for NF1
- Browse OriGene Inhibitory RNA Products For NF1
- genomics-online: shRNA clones - Search results for 64 available Neurofibromin 1 gene related products
- Overview of 64 available Neurofibromin 1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NF1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for NF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NF1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for NF1
- genomics-online: cdna clones - Search results for 64 available Neurofibromin 1 gene related products
- Overview of 64 available Neurofibromin 1 gene related products
- orf clones - Search results for 64 available Neurofibromin 1 gene related products
- Overview of 64 available Neurofibromin 1 gene related products
- Applied Biological Materials Clones for NF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for NF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Heart (Cardiovascular System)
- Atrioventricular Valve Cells Atrioventricular Valves
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, PaxDb, MaxQB, and MOPED for NF1 Gene
NURSA nuclear receptor signaling pathways regulating expression of NF1 Gene:
NF1SOURCE GeneReport for Unigene cluster for NF1 Gene:
Hs.113577mRNA 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(4.6)
- Liver(4.6)
- Nervous system(4.6)
- Pancreas(3.9)
- Eye(3.4)
- Intestine(3.2)
- Heart(2.9)
- Muscle(2.8)
- Skin(2.8)
- Adrenal gland(2.5)
- Lung(2.3)
- Stomach(2.3)
- Blood(2.2)
- Bone(2.2)
- Thyroid gland(2)
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
Primer Products
-
OriGene qPCR primer pairs for NF1
- genomics-online: primer clones - Search results for 64 available Neurofibromin 1 gene related products
- Overview of 64 available Neurofibromin 1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NF1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | NF1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NF1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Nf1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nf1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | NF1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NF1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nf1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nf1a 34 |
|
OneToMany | |
| nf1b 33 34 |
|
||||
| wufe06d03 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Nf1 35 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003140 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IRA1 34 |
|
OneToMany | |
| IRA2 34 36 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany |
- Species where no ortholog for NF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for NF1 Gene
(2) SIMAP similar genes for NF1 Gene using alignment to 17 proteins:
Pseudogenes.org Pseudogenes for NF1 Gene
No data available for Paralogs for NF1 Gene
Variants for NF1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1007047958 | uncertain-significance, Hereditary cancer-predisposing syndrome | 31,156,101(+) | C/G | coding_sequence_variant, missense_variant | |
| rs1022562410 | uncertain-significance, Neurofibromatosis, type 1 | 31,343,027(+) | A/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1024333224 | uncertain-significance, Hereditary cancer-predisposing syndrome | 31,336,809(+) | A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1024484381 | uncertain-significance, Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome | 31,337,867(+) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1028183407 | likely-benign, Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome | 31,337,489(+) | G/A/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NF1 Gene
Disorders for NF1 Gene
(104) MalaCards diseases for NF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neurofibromatosis-noonan syndrome |
|
|
| neurofibromatosis, type i |
|
|
| neurofibromatosis, familial spinal |
|
|
| watson syndrome |
|
|
| juvenile myelomonocytic leukemia |
|
Search NF1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NF1_HUMAN- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
Genatlas disease for NF1 Gene
neurofibromatosis 1 (von Recklinghausen disease),characterized by cafe 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 (cafe au lait spots with pulmonic stenosis)
Additional Disease Information for NF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for NF1 Gene
- NF1 gene analysis based on DHPLC. (PMID: 12552569) De Luca A … Dallapiccola B (Human mutation 2003) 3 4 22 44 58
- An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. (PMID: 17160901) Upadhyaya M … Messiaen L (American journal of human genetics 2007) 3 4 22 58
- NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PMID: 16380919) De Luca A … Dallapiccola B (American journal of human genetics 2005) 3 4 44 58
- Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. (PMID: 15146469) De Luca A … Dallapiccola B (Human mutation 2004) 3 4 44 58
- Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. (PMID: 13679444) Lasota J … Miettinen M (Laboratory investigation; a journal of technical methods and pathology 2003) 3 22 44 58
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