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FLCN

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.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Erythroid cells, Cone photoreceptor cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Interacts (via C-terminus) with FNIP1 or FNIP2 (via C-terminus) (PubMed:17028174, PubMed:18403135, PubMed:18663353, PubMed:27353360). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (PubMed:31704029, PubMed:31672913). Interaction with FNIP1 or FNIP2 mediates indirect interaction with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5'-AMP-activated protein kinase (AMPK) (PubMed:17028174). Interacts with HSP90AA1 in the presence of FNIP1 (PubMed:27353360). Interacts with HSP70, STUB1, CDC37, AHSA1, CCT2, STIP1, PTGES3 and PPP5C (PubMed:27353360). Interacts with GABARAP; interaction takes place in the presence of FNIP1 and/or FNIP2 (PubMed:25126726). Interacts with RILP; the interaction is direct and promotes association between RILP and RAB34 (PubMed:27113757). Interacts with KIF3A and KIF3B (PubMed:27072130). Interacts with lactate dehydrogenase LDHA, but not LDHB; the interaction is direct, may preferentially bind LDHA dimers rather than tetramers, and regulates LDHA activity, acting as an uncompetitive inhibitor (PubMed:34381247).

Molecular function

GTPase activation

More Types Infomation

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