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This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]
FNIP1 (Folliculin Interacting Protein 1) is a Protein Coding gene. Diseases associated with FNIP1 include Interdigitating Dendritic Cell Sarcoma and Multilocular Clear Cell Renal Cell Carcinoma. Among its related pathways are mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is FNIP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IDA | 22977732 |
GO:0005515 | protein binding | IPI | 17028174 |
GO:0019899 | enzyme binding | IPI | 30699359 |
GO:0042030 | ATPase inhibitor activity | IDA | 27353360 |
GO:0051087 | chaperone binding | IDA | 27353360 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 17028174 |
GO:0005765 | lysosomal membrane | IDA | 24081491 |
GO:0005829 | cytosol | IDA | 24081491 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mTOR signaling pathway (KEGG) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 21209915 |
GO:0001932 | regulation of protein phosphorylation | IDA | 18663353 |
GO:0001934 | positive regulation of protein phosphorylation | IMP | 17028174 |
GO:0002327 | immature B cell differentiation | ISS | -- |
GO:0002904 | positive regulation of B cell apoptotic process | ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FNIP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FNIP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FNIP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fnip1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fnip1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FNIP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FNIP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FNIP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FNIP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fnip1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | FNIP1 31 |
|
OneToOne | |
fnip1 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3764 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T04C4.1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1554092867 | Uncertain Significance: Wolff-Parkinson-White pattern | 131,671,687(-) | CTCTT/C | FRAMESHIFT_VARIANT | |
rs1554096246 | Uncertain Significance: Wolff-Parkinson-White pattern | 131,719,316(-) | C/T | SPLICE_DONOR_VARIANT | |
rs12109782 | - | p.Val738Leu | |||
rs13177318 | - | p.Ser354Leu | |||
rs26008 | - | p.Gln648Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1136463 | CNV | deletion | 17803354 |
esv1591239 | CNV | deletion | 17803354 |
esv2730780 | CNV | deletion | 23290073 |
esv2730781 | CNV | deletion | 23290073 |
esv2730782 | CNV | deletion | 23290073 |
esv3570416 | CNV | loss | 25503493 |
esv3575881 | CNV | gain | 25503493 |
esv990609 | CNV | deletion | 20482838 |
nsv1032888 | CNV | loss | 25217958 |
nsv1074871 | CNV | deletion | 25765185 |
nsv1117579 | CNV | deletion | 24896259 |
nsv968984 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
interdigitating dendritic cell sarcoma |
|
|
multilocular clear cell renal cell carcinoma |
|
|
birt-hogg-dube syndrome |
|
|
familial renal oncocytoma |
|
|
pneumothorax, primary spontaneous |
|
|