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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]
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Signaling by PTK6 | ||
3 | MAPK signaling pathway | ||
4 | Developmental Biology |
.51
|
|
5 | Cytokine Signaling in Immune system |
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 | -- |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NF1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NF1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Nf1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nf1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nf1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nf1a 31 |
|
OneToMany | |
nf1b 30 31 |
|
OneToMany | |||
wufe06d03 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nf1 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003140 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IRA2 31 33 |
|
OneToMany | |
IRA1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurofibromatosis, type i |
|
|
neurofibromatosis-noonan syndrome |
|
|
neurofibromatosis, familial spinal |
|
|
juvenile myelomonocytic leukemia |
|
|
watson syndrome |
|