InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FLCN

Summary

InnateDB Protein

IDBP-32803.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FLCN

Protein Name

folliculin

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000373821

InnateDB Gene

IDBG-32795 (FLCN)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cytoplasm. Nucleus. Note=Mainly localized in the nucleus. Colocalizes with FNIP1 and FNIP2 in the cytoplasm.

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.

Tissue Specificity

Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. {ECO:0000269PubMed:12204536}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0032403	protein complex binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001701	in utero embryonic development
GO:0001932	regulation of protein phosphorylation
GO:0001934	positive regulation of protein phosphorylation
GO:0007043	cell-cell junction assembly
GO:0010628	positive regulation of gene expression
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:0032465	regulation of cytokinesis
GO:0035024	negative regulation of Rho protein signal transduction
GO:0035065	regulation of histone acetylation
GO:0043065	positive regulation of apoptotic process
GO:0045785	positive regulation of cell adhesion
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051898	negative regulation of protein kinase B signaling
GO:0070373	negative regulation of ERK1 and ERK2 cascade
GO:1900181	negative regulation of protein localization to nucleus
GO:1901723	negative regulation of cell proliferation involved in kidney development
GO:2000506	negative regulation of energy homeostasis
GO:2000973	regulation of pro-B cell differentiation
GO:2001170	negative regulation of ATP biosynthetic process