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Search results 201 to 237 out of 237 for Flcn

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0.019s
Type Details Score
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication    
First Author: Wang X
Year: 2021
Journal: J Biol Chem
Title: FLCN regulates transferrin receptor 1 transport and iron homeostasis.
Pages: 100426
Allele
Name: folliculin; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
Publication
First Author: Hasumi H
Year: 2008
Journal: Gene
Title: Identification and characterization of a novel folliculin-interacting protein FNIP2.
Volume: 415
Issue: 1-2
Pages: 60-7
Protein Domain
Type: Family
Description: Birt-Hogg-Dube' syndrome, a disorder characterised by benign tumours of the hair follicle, lung cysts and renal neoplasia, is caused by germline mutations in the BHD(FLCN) gene; this encodes a tumour suppressor protein, folliculin (FLCN), of unknown function []. The folliculin- interacting protein, FNIP1, has also been identified and shown to interact with 5' AMP-activated protein kinase (AMPK), which plays a vital role in energy sensing []. Together, then, it is thought that folliculin (mutated in Birt-Hogg-Dube' syndrome) and its interaction partner, FNIP1, may be involved in energy and/or nutrient sensing via the AMPK and mTOR signalling pathways.FNIP1 has a homologue, FNIP2, which also interacts with FLCN and AMPK. C-terminally-deleted FLCN mutants, like those produced by germline mutations in BHD patients, do not bind FNIP2, suggesting that FLCN tumour-suppressor function may be facilitated by interactions with both FNIP1 and FNIP2 via its C terminus []. FNIP1 and FNIP2 are able to form homo- or heteromeric multimers, and may hence function either independently or cooperatively with FLCN [].This entry represents the FNIP family, including FNIP1 and FNIP2.
HT Experiment
Series Id: E-GEOD-38741
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
First Author: Brown PR
Year: 2003
Journal: Biol Reprod
Title: A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum.
Volume: 68
Issue: 6
Pages: 2241-8
Protein
Organism: Mus musculus/domesticus
Length: 1165  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1108  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 631  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1138  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 677  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 888  
Fragment?: true
Publication
First Author: Asrani K
Year: 2022
Journal: Nat Commun
Title: An mTORC1-mediated negative feedback loop constrains amino acid-induced FLCN-Rag activation in renal cells with TSC2 loss.
Volume: 13
Issue: 1
Pages: 6808
Publication
First Author: Mathieu J
Year: 2019
Journal: Nat Commun
Title: Folliculin regulates mTORC1/2 and WNT pathways in early human pluripotency.
Volume: 10
Issue: 1
Pages: 632
Publication
First Author: Possik E
Year: 2014
Journal: PLoS Genet
Title: Folliculin regulates ampk-dependent autophagy and metabolic stress survival.
Volume: 10
Issue: 4
Pages: e1004273
Protein Domain
Type: Domain
Description: The tripartite DENN (after differentially expressed in neoplastic versus normal cells) domain is found in several proteins that share common structural features and have been shown to be guanine nucleotide exchange factors (GEFs) for Rab GTPases, which are regulators of practically all membrane trafficking events in eukaryotes. The tripartite DENN domain is composed of three distinct modules which are always associated due to functional and/or structural constraints: upstream DENN or uDENN, the better conserved central or core or cDENN, and downstream or dDENN regions. The tripartite DENN domain is found associated with other domains, such as RUN, PLAT, PH, PPR, WD-40, GRAM or C1. The function of DENN domain remains to date unclear, although it appears to represent a good candidate for a GTP/GDP exchangeactivity [, , , , ].Some proteins known to contain a tripartite DENN domain are listed below:Rat Rab3 GDP/GTP exchange protein (Rab3GEP).Human mitogen-activated protein kinase activating protein containing death domain (MADD). It is orthologous to Rab3GEP.Caenorhabditis elegans regulator of presynaptic activity aex-3, the ortholog of Rab3GEP.Mouse Rab6 interacting protein 1 (Rab6IP1).Human SET domain-binding factor 1(SBF1).Human suppressor of tumoreginicity 5 (ST5).Human C-MYC promoter-binding protein IRLB.The DENN domain forms a heart-shaped structure, with the N-terminal residues forming one and the C-terminal residues forming the second one. The N-terminal half forms the uDENN domain and consists of a central antiparallel β-sheet layered between one helix and two helices. A long random-coil region links the two lobes. The C-terminal lobe is composed of the cDENN and dDENN domains. The cDENN domain is an alpha/beta three layered sandwich domain with a central sheet of 5-strands. The dDENN domain is an all-alpha helical domain, whose core contains two alpha-hairpins which divergerapidly in sequence [, ].Divergent types of the tripartite DENN domain have also been detected in other protein families []:Folliculin (FLCN), a tumor suppressor protein disrupted in various cancers and the Birt-Hogg-Dube syndrome, and Smith-Magenis syndrome chromosomal region candidate eight protein (SMCR8), which has been implicated in autophagy [].FLCN-interacting proteins (FNIP1 and FNIP2), interact with FLCN and function in conjunction with it to regulate cellular energy metabolism both in the kidney tissue and B-cells.C9ORF72 protein, expansions of the hexanucleotide GGGGCC in the first intron of its gene have been implicated in amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD).This entry represents the FNIP1/FNIP2-type divergent tripartite DENN domain.
Publication
First Author: Fernandez-Mosquera L
Year: 2019
Journal: Autophagy
Title: Mitochondrial respiratory chain deficiency inhibits lysosomal hydrolysis.
Volume: 15
Issue: 9
Pages: 1572-1591
Publication
First Author: Nookala RK
Year: 2012
Journal: Open Biol
Title: Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer.
Volume: 2
Issue: 8
Pages: 120071
Publication
First Author: Wu X
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate.
Volume: 108
Issue: 46
Pages: 18672-7
Publication  
First Author: Zhang D
Year: 2012
Journal: Front Genet
Title: Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease.
Volume: 3
Pages: 283
Publication
First Author: Levivier E
Year: 2001
Journal: Biochem Biophys Res Commun
Title: uDENN, DENN, and dDENN: indissociable domains in Rab and MAP kinases signaling pathways.
Volume: 287
Issue: 3
Pages: 688-95
Publication
First Author: Semova N
Year: 2003
Journal: Genomics
Title: Molecular cloning, structural analysis, and expression of a human IRLB, MYC promoter-binding protein: new DENN domain-containing protein family emerges.
Volume: 82
Issue: 3
Pages: 343-54
Publication
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7