We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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).
Cancer-related genes Disease related genes Human 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
17
Cytoband
p11.2
Chromosome location (bp)
17212212 - 17237188
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis 1,2,3,4,5,6,7,8,9,10,11. GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the non-canonical mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 12,13,14,15,16,17,18,19,20,21,22. Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RagC/RRAGC or RagD/RRAGD, promoting the conversion to the GDP-bound state of RagC/RRAGC or RagD/RRAGD, and thereby activating the kinase activity of mTORC1 23,24,25,26,27. The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients 28,29. Acts as a key component for non-canonical mTORC1-dependent control of the MiT/TFE factors TFEB and TFE3, while it is not involved in mTORC1-dependent phosphorylation of canonical RPS6KB1/S6K1 and EIF4EBP1/4E-BP1 30,31,32,33. In low-amino acid conditions, the lysosomal folliculin complex (LFC) is formed on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, inactivates mTORC1 and maximizes nuclear translocation of TFEB and TFE3 34. Upon amino acid restimulation, RagA/RRAGA (or RagB/RRAGB) nucleotide exchange promotes disassembly of the LFC complex and liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent cytoplasmic retention of TFEB and TFE3 35. Indirectly acts as a positive regulator of Wnt signaling by promoting mTOR-dependent cytoplasmic retention of MiT/TFE factor TFE3 36. Required for the exit of hematopoietic stem cell from pluripotency by promoting mTOR-dependent cytoplasmic retention of TFE3, thereby increasing Wnt signaling 37. Acts as an inhibitor of browning of adipose tissue by regulating mTOR-dependent cytoplasmic retention of TFE3 (By similarity). Involved in the control of embryonic stem cells differentiation; together with LAMTOR1 it is necessary to recruit and activate RagC/RRAGC and RagD/RRAGD at the lysosomes, and to induce exit of embryonic stem cells from pluripotency via non-canonical, mTOR-independent TFE3 inactivation (By similarity). In response to flow stress, regulates STK11/LKB1 accumulation and mTORC1 activation through primary cilia: may act by recruiting STK11/LKB1 to primary cilia for activation of AMPK resided at basal bodies, causing mTORC1 down-regulation 38. Together with FNIP1 and/or FNIP2, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy 39. Required for starvation-induced perinuclear clustering of lysosomes by promoting association of RILP with its effector RAB34 40. Regulates glycolysis by binding to lactate dehydrogenase LDHA, acting as an uncompetitive inhibitor 41....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
GTPase activation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of the urinary system Respiratory diseases Lung diseases Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001701[in utero embryonic development] GO:0001932[regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0004857[enzyme inhibitor activity] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005929[cilium] GO:0007043[cell-cell junction assembly] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0008285[negative regulation of cell population proliferation] GO:0009267[cellular response to starvation] GO:0010508[positive regulation of autophagy] GO:0010629[negative regulation of gene expression] GO:0010823[negative regulation of mitochondrion organization] GO:0016020[membrane] GO:0019899[enzyme binding] GO:0030097[hemopoiesis] GO:0030308[negative regulation of cell growth] GO:0030336[negative regulation of cell migration] GO:0030496[midbody] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0031929[TOR signaling] GO:0032006[regulation of TOR signaling] GO:0032007[negative regulation of TOR signaling] GO:0032008[positive regulation of TOR signaling] GO:0032418[lysosome localization] GO:0032465[regulation of cytokinesis] GO:0034198[cellular response to amino acid starvation] GO:0035024[negative regulation of Rho protein signal transduction] GO:0035065[regulation of histone acetylation] GO:0042995[cell projection] GO:0043065[positive regulation of apoptotic process] GO:0043491[protein kinase B signaling] GO:0043547[positive regulation of GTPase activity] GO:0044291[cell-cell contact zone] GO:0044877[protein-containing complex binding] GO:0045785[positive regulation of cell adhesion] GO:0045820[negative regulation of glycolytic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046578[regulation of Ras protein signal transduction] GO:0048583[regulation of response to stimulus] GO:0050673[epithelial cell proliferation] GO:0050680[negative regulation of epithelial cell proliferation] GO:0051898[negative regulation of protein kinase B signaling] GO:0070371[ERK1 and ERK2 cascade] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0072111[cell proliferation involved in kidney development] GO:0072686[mitotic spindle] GO:0097009[energy homeostasis] GO:0097193[intrinsic apoptotic signaling pathway] GO:0120163[negative regulation of cold-induced thermogenesis] GO:1900181[negative regulation of protein localization to nucleus] GO:1901723[negative regulation of cell proliferation involved in kidney development] GO:1901856[negative regulation of cellular respiration] GO:1901859[negative regulation of mitochondrial DNA metabolic process] GO:1901862[negative regulation of muscle tissue development] GO:1901874[negative regulation of post-translational protein modification] GO:1903444[negative regulation of brown fat cell differentiation] GO:1904263[positive regulation of TORC1 signaling] GO:2000973[regulation of pro-B cell differentiation] GO:2001170[negative regulation of ATP biosynthetic process] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of the urinary system Respiratory diseases Lung diseases Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001701[in utero embryonic development] GO:0001932[regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0004857[enzyme inhibitor activity] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005929[cilium] GO:0007043[cell-cell junction assembly] GO:0009267[cellular response to starvation] GO:0010508[positive regulation of autophagy] GO:0010629[negative regulation of gene expression] GO:0010823[negative regulation of mitochondrion organization] GO:0016020[membrane] GO:0019899[enzyme binding] GO:0030097[hemopoiesis] GO:0030308[negative regulation of cell growth] GO:0030336[negative regulation of cell migration] GO:0030496[midbody] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0031929[TOR signaling] GO:0032006[regulation of TOR signaling] GO:0032007[negative regulation of TOR signaling] GO:0032008[positive regulation of TOR signaling] GO:0032418[lysosome localization] GO:0032465[regulation of cytokinesis] GO:0034198[cellular response to amino acid starvation] GO:0035024[negative regulation of Rho protein signal transduction] GO:0035065[regulation of histone acetylation] GO:0042995[cell projection] GO:0043065[positive regulation of apoptotic process] GO:0043547[positive regulation of GTPase activity] GO:0044291[cell-cell contact zone] GO:0044877[protein-containing complex binding] GO:0045785[positive regulation of cell adhesion] GO:0045820[negative regulation of glycolytic process] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046578[regulation of Ras protein signal transduction] GO:0048583[regulation of response to stimulus] GO:0051898[negative regulation of protein kinase B signaling] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0072686[mitotic spindle] GO:0097009[energy homeostasis] GO:0120163[negative regulation of cold-induced thermogenesis] GO:1900181[negative regulation of protein localization to nucleus] GO:1901723[negative regulation of cell proliferation involved in kidney development] GO:1903444[negative regulation of brown fat cell differentiation] GO:1904263[positive regulation of TORC1 signaling] GO:2000973[regulation of pro-B cell differentiation] GO:2001170[negative regulation of ATP biosynthetic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of the urinary system Respiratory diseases Lung diseases Other diseases Others Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096[GTPase activator activity] GO:0048583[regulation of response to stimulus]
DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of the urinary system Respiratory diseases Lung diseases Other diseases Others Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
