InnateDB Protein
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IDBP-32797.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FLCN
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Protein Name
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folliculin
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000285071
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InnateDB Gene
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IDBG-32795 (FLCN)
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Protein Structure
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Function |
May play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an inherited disorder of the hair follicle (fibrofolliculomas). May be a tumor suppressor. May be involved in colorectal tumorigenesis. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. {ECO:0000269PubMed:12204536, ECO:0000269PubMed:17028174, ECO:0000269PubMed:18663353}.
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Subcellular Localization |
Cytoplasm. Nucleus. Note=Mainly localized in the nucleus. Colocalizes with FNIP1 and FNIP2 in the cytoplasm.
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Disease Associations |
Birt-Hogg-Dube syndrome (BHD) [MIM:135150]: 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. {ECO:0000269PubMed:12204536, ECO:0000269PubMed:15852235, ECO:0000269PubMed:18234728, ECO:0000269PubMed:19785621}. Note=The disease is caused by mutations affecting the gene represented in this entry.Primary spontaneous pneumothorax (PSP) [MIM:173600]: 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. {ECO:0000269PubMed:15657874, ECO:0000269PubMed:18505456, ECO:0000269PubMed:18579543}. Note=The disease is caused by mutations affecting the gene represented in this entry.Renal cell carcinoma (RCC) [MIM:144700]: 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. {ECO:0000269PubMed:18794106}. Note=The gene represented in this entry may be involved in disease pathogenesis.
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Tissue Specificity |
Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. {ECO:0000269PubMed:12204536}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
7
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0000122
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negative regulation of transcription from RNA polymerase II promoter
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GO:0001701
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in utero embryonic development
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GO:0001932
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regulation of protein phosphorylation
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GO:0001934
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positive regulation of protein phosphorylation
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GO:0007043
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cell-cell junction assembly
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GO:0010628
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positive regulation of gene expression
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GO:0010629
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negative regulation of gene expression
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GO:0010823
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negative regulation of mitochondrion organization
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GO:0030097
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hemopoiesis
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GO:0030308
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negative regulation of cell growth
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GO:0030336
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negative regulation of cell migration
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GO:0030511
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positive regulation of transforming growth factor beta receptor signaling pathway
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GO:0031929
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TOR signaling
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GO:0032006
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regulation of TOR signaling
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GO:0032007
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negative regulation of TOR signaling
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GO:0032008
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positive regulation of TOR signaling
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GO:0032465
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regulation of cytokinesis
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GO:0035024
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negative regulation of Rho protein signal transduction
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GO:0035065
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regulation of histone acetylation
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GO:0043065
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positive regulation of apoptotic process
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GO:0045785
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positive regulation of cell adhesion
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0051898
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negative regulation of protein kinase B signaling
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GO:0070373
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negative regulation of ERK1 and ERK2 cascade
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GO:1900181
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negative regulation of protein localization to nucleus
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GO:1901723
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negative regulation of cell proliferation involved in kidney development
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GO:2000506
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negative regulation of energy homeostasis
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GO:2000973
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regulation of pro-B cell differentiation
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GO:2001170
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negative regulation of ATP biosynthetic process
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NFG4
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PhosphoSite |
PhosphoSite-Q8NFG4
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TrEMBL |
J3QQZ7
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UniProt Splice Variant |
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Entrez Gene |
201163
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UniGene |
Hs.633478
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RefSeq |
NP_659434
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HUGO |
HGNC:27310
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OMIM |
607273
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CCDS |
CCDS32579
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HPRD |
06278
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IMGT |
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EMBL |
AC055811
AF517523
AK126951
AK127912
BC015687
BC015725
CH471196
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GenPept |
AAH15687
AAH15725
AAM94803
BAC86760
BAC87186
EAW55716
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