Entity Details

Primary name FLCN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NFG4
EntryNameFLCN_HUMAN
FullNameFolliculin
TaxID9606
Evidenceevidence at protein level
Length579
SequenceStatuscomplete
DateCreated2006-02-21
DateModified2021-06-02

Ontological Relatives

GenesFLCN

GO terms

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GOName
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:0005085 guanyl-nucleotide exchange factor activity
GO:0005096 GTPase activator activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005813 centrosome
GO:0005829 cytosol
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:0030097 hemopoiesis
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
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:0043065 positive regulation of apoptotic process
GO:0043547 positive regulation of GTPase activity
GO:0044877 protein-containing complex binding
GO:0045785 positive regulation of cell adhesion
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046578 regulation of Ras protein signal transduction
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

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Lysosome membrane
Nucleus

Domains

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DomainNameCategoryType
IPR021713 FolliculinFamilyFamily
IPR032035 Folliculin, DENN domainDomainDomain
IPR037520 Folliculin/SMCR8, longin domainDomainDomain
IPR037521 Folliculin/SMCR8, tripartite DENN domainDomainDomain

Diseases

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Disease IDSourceNameDescription
173600 OMIMPrimary spontaneous pneumothorax (PSP)Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested. The disease is caused by variants affecting the gene represented in this entry.
135150 OMIMBirt-Hogg-Dube syndrome (BHD)A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients. The disease is caused by variants affecting the gene represented in this entry.
144700 OMIMRenal cell carcinoma (RCC)Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. The gene represented in this entry may be involved in disease pathogenesis.

Interactions

59 interactions

InteractorPartnerSourcesPublicationsLink
FLCN_HUMANGBRAP_HUMANBioGRID, IntAct20562859 25126726 details
FLCN_HUMANALDOB_HUMANBioGRID, MINT24412244 details
FLCN_HUMANTSTD2_HUMANBioGRID, MINT24412244 details
FLCN_HUMANF16P1_HUMANBioGRID, MINT24412244 details
FLCN_HUMANHEMGN_HUMANBioGRID, MINT24412244 details
FLCN_HUMANCC180_HUMANBioGRID, MINT24412244 details
FLCN_HUMANSIAS_HUMANBioGRID, MINT24412244 details
FLCN_HUMANTEFF1_HUMANBioGRID, MINT24412244 details
FLCN_HUMANFNIP1_HUMANBioGRID, DIP, UniProt17028174 18403135 27353360 28656962 33137092 details
FLCN_HUMANA4_HUMANBioGRID21832049 details
FLCN_HUMANULK1_HUMANBioGRID25126726 details
FLCN_HUMANMLP3B_HUMANBioGRID25126726 details
FLCN_HUMANHS90A_HUMANBioGRID27353360 details
FLCN_HUMANFNIP2_HUMANBioGRID, UniProt18403135 25126726 27353360 28656962 33137092 details
FLCN_HUMANSF3B1_HUMANBioGRID27353360 details
FLCN_HUMANSF3B3_HUMANBioGRID27353360 details
FLCN_HUMANHS71A_HUMANBioGRID27353360 details
FLCN_HUMANHS71B_HUMANBioGRID27353360 details
FLCN_HUMANTCPQ_HUMANBioGRID27353360 details
FLCN_HUMANTCPB_HUMANBioGRID27353360 details
FLCN_HUMANTCPH_HUMANBioGRID27353360 details
FLCN_HUMANTCPD_HUMANBioGRID27353360 details
FLCN_HUMANAHSA1_HUMANBioGRID27353360 details
FLCN_HUMANCHIP_HUMANBioGRID27353360 details
FLCN_HUMANRL10_HUMANBioGRID27353360 details
FLCN_HUMANPPP5_HUMANBioGRID27353360 details
FLCN_HUMANSTIP1_HUMANBioGRID27353360 details
FLCN_HUMANCDC37_HUMANBioGRID27353360 details
FLCN_HUMANTEBP_HUMANBioGRID27353360 details
FLCN_HUMANRAB7A_HUMANBioGRID28656962 details
FLCN_HUMANRAB7B_HUMANBioGRID28656962 details
FLCN_HUMANRAB35_HUMANBioGRID28656962 details
FLCN_HUMANRAB9A_HUMANBioGRID28656962 details
FLCN_HUMANPI42C_HUMANBioGRID28656962 details
FLCN_HUMANRAB13_HUMANBioGRID28656962 details
FLCN_HUMANRIN1_HUMANBioGRID28656962 details
FLCN_HUMANRAB12_HUMANBioGRID28656962 details
FLCN_HUMANNARR_HUMANBioGRID28656962 details
FLCN_HUMANRAB34_HUMANBioGRID28656962 details
FLCN_HUMANRAB1A_HUMANBioGRID28656962 details
FLCN_HUMANRFIP1_HUMANBioGRID28656962 details
FLCN_HUMANRAB3B_HUMANBioGRID28656962 details
FLCN_HUMANRAB5C_HUMANBioGRID28656962 details
FLCN_HUMANRAB2A_HUMANBioGRID28656962 details
FLCN_HUMANRB33B_HUMANBioGRID28656962 details
FLCN_HUMANRABL3_HUMANBioGRID28656962 details
FLCN_HUMANRAB18_HUMANBioGRID28656962 details
FLCN_HUMANRAB7L_HUMANBioGRID28656962 details
FLCN_HUMANRB3GP_HUMANBioGRID28656962 details
FLCN_HUMANRB6I2_HUMANBioGRID28656962 details
FLCN_HUMANRAB10_HUMANBioGRID28656962 details
FLCN_HUMANRAB14_HUMANBioGRID28656962 details
FLCN_HUMANRAB8A_HUMANBioGRID28656962 details
FLCN_HUMANRAB32_HUMANBioGRID28656962 details
FLCN_HUMANTBA1B_HUMANBioGRID28656962 details
FLCN_HUMANALDOA_HUMANBioGRID28656962 details
FLCN_HUMANAHNK_HUMANBioGRID28656962 details
FLCN_HUMANMEP50_HUMANBioGRID28656962 details
FLCN_HUMANUBP7_HUMANBioGRID33137092 details