Type |
Details |
Score |
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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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). |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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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 |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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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 |
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Publication |
First Author: |
Wang X |
Year: |
2021 |
Journal: |
J Biol Chem |
Title: |
FLCN regulates transferrin receptor 1 transport and iron homeostasis. |
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Pages: |
100426 |
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Allele |
Name: |
folliculin; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
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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 |
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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. |
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HT Experiment |
Series Id: |
E-GEOD-38741 |
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
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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 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1165
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1108
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
631
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1138
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
677
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
888
 |
Fragment?: |
true |
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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 |
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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 |
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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 |
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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. |
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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 |
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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 |
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•
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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 |
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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 |
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Pages: |
283 |
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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 |
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•
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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 |
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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 |
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