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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-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. An important paralog of this gene is SYNGAP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IDA,IEA | 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 | 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 | 179 | |
Calcium | Approved | Nutra | 7773 | |||
Tyrosine | Approved, Investigational | Nutra | 938 | |||
Aminolevulinic acid | Approved | Pharma | 192 | |||
Caffeine | Approved | Pharma | Antagonist, Activator | 541 |
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 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | NF1 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | NF1 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
mouse (Mus musculus) |
Mammalia | Nf1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Nf1 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | NF1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | NF1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | nf1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | nf1a 33 |
|
OneToMany | |
nf1b 33 32 |
|
OneToMany | |||
wufe06d03 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Nf1 33 34 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003140 32 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IRA2 35 33 |
|
||
IRA1 33 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1007047958 | uncertain-significance, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1 | 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 | |
rs1022605462 | uncertain-significance, Neurofibromatosis, type 1 | 31,350,315(+) | A/C/G | 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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurofibromatosis-noonan syndrome |
|
|
neurofibromatosis, type i |
|
|
neurofibromatosis, familial spinal |
|
|
juvenile myelomonocytic leukemia |
|
|
watson syndrome |
|