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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
5
Cytoband
q31.1
Chromosome location (bp)
131641714 - 131797017
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Binding partner of the GTPase-activating protein FLCN: involved in the cellular response to amino acid availability by regulating the mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 1,2,3. In low-amino acid conditions, component of the lysosomal folliculin complex (LFC) on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, thereby inactivating mTORC1 and promoting nuclear translocation of TFEB and TFE3 (By similarity). Upon amino acid restimulation, disassembly of the LFC complex liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent cytoplasmic retention of TFEB and TFE3 (By similarity). Required to promote FLCN recruitment to lysosomes and interaction with Rag GTPases 4. Together with FLCN, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy 5. In addition to its role in mTORC1 signaling, also acts as a co-chaperone of HSP90AA1/Hsp90: following gradual phosphorylation by CK2, inhibits the ATPase activity of HSP90AA1/Hsp90, leading to activate both kinase and non-kinase client proteins of HSP90AA1/Hsp90 6,7. Acts as a scaffold to load client protein FLCN onto HSP90AA1/Hsp90 8. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins 9. Also acts as a core component of the reductive stress response by inhibiting activation of mitochondria in normal conditions: in response to reductive stress, the conserved Cys degron is reduced, leading to recognition and polyubiquitylation by the CRL2(FEM1B) complex, followed by proteasomal (By similarity). Required for B-cell development 10....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q8TF40 [Direct mapping] Folliculin-interacting protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001932[regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0002327[immature B cell differentiation] GO:0002904[positive regulation of B cell apoptotic process] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0009267[cellular response to starvation] GO:0016020[membrane] GO:0019899[enzyme binding] GO:0030183[B cell differentiation] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031929[TOR signaling] GO:0032007[negative regulation of TOR signaling] GO:0032008[positive regulation of TOR signaling] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042030[ATPase inhibitor activity] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0051087[chaperone binding] GO:2000973[regulation of pro-B cell differentiation]
Q8TF40 [Direct mapping] Folliculin-interacting protein 1
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001783[B cell apoptotic process] GO:0001932[regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0002327[immature B cell differentiation] GO:0002904[positive regulation of B cell apoptotic process] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0008285[negative regulation of cell population proliferation] GO:0009267[cellular response to starvation] GO:0016020[membrane] GO:0019899[enzyme binding] GO:0030183[B cell differentiation] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031929[TOR signaling] GO:0032007[negative regulation of TOR signaling] GO:0032008[positive regulation of TOR signaling] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042030[ATPase inhibitor activity] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0051087[chaperone binding] GO:2000973[regulation of pro-B cell differentiation]
Q8TF40 [Direct mapping] Folliculin-interacting protein 1
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001932[regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0002327[immature B cell differentiation] GO:0002904[positive regulation of B cell apoptotic process] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0009267[cellular response to starvation] GO:0016020[membrane] GO:0019899[enzyme binding] GO:0030183[B cell differentiation] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031929[TOR signaling] GO:0032007[negative regulation of TOR signaling] GO:0032008[positive regulation of TOR signaling] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042030[ATPase inhibitor activity] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0051087[chaperone binding] GO:2000973[regulation of pro-B cell differentiation]
The Human Protein Atlas project is funded
