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FNIP1 (folliculin interacting protein 1)

Written2007-07Laura S. Schmidt
National Cancer Institute-Frederick, Frederick, MD 21702, USA

(Note : for Links provided by Atlas : click)

Identity

Other namesKIAA1961
MGC 667
HGNC (Hugo) FNIP1
LocusID (NCBI) 96459
Atlas_Id 44003
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 130977407 and ends at 131132756 bp from pter ( according to hg19-Feb_2009)  [Mapping FNIP1.png]
Fusion genes
(updated 2016)
FNIP1 (5q31.1) / RAPGEF6 (5q31.1)FNIP1 (5q31.1) / SUSD4 (1q41)RASA1 (5q14.3) / FNIP1 (5q31.1)

DNA/RNA

 
Description The FNIP1 gene consists of a 6655 nt mRNA (using NM 133372 derived from AC005593.1, DQ145719.1, AC008695.9 and AL832008.1, the coding sequence extends from nt143 to nt3643) and contains 18 coding exons. The initiation codon is located within exon 1.
Transcription Northern blot analysis revealed an about 7 kb FNIP1 mRNA transcript that was expressed in most major adult tissues, with strongest expression in heart, liver and placenta, and expression in kidney and lung, tissues involved in the Birt-Hogg-Dube' syndrome phenotype (see below). Several alternate transcripts lacking one or more exons have been reported. Transcript 1 is the full-length isoform. Transcript 2 lacks exon 7 (NM 001008738).

Protein

Description The FNIP1 protein contains 1166 amino acids and has an estimated molecular weight of 130 kDa.
Localisation Epitope-tagged FNIP1 expressed in HeLa cells localized exclusively in the cytoplasm.
Function Coimmunoprecipitation studies to elucidate the function of folliculin (FLCN) (encoded by the tumor suppressor gene, BHD/FLCN, which is mutated in the Birt-Hogg-Dube' syndrome) identified a novel folliculin-interacting protein, FNIP1, which interacts through the C-terminus of FLCN. FNIP1 overexpression enhanced phosphorylation of FLCN and phospho-FLCN preferentially bound to FNIP1.
FNIP1 is a novel protein with no domains to suggest function. By coimmunoprecipitation studies FNIP1 was also found to interact with the heterotrimer, 5'AMP-activated protein kinase (AMPK), a key molecule for energy sensing and a negative regulator of mTOR (mammalian target of rapamycin). AMPK, which bound to FNIP1, was preferentially in its phosphorylated (active) form and FNIP1 could act as a substrate for AMPK phosphorylation both in vitro and in vivo. Inhibition of AMPK kinase activity resulted in reduced FNIP1 protein expression in HEK293 cells suggesting that phosphorylation of FNIP1 by AMPK may enhance protein stability. These data suggest that FNIP1 and its interacting partner, FLCN, may be involved in energy and nutrient-sensing through the AMPK and mTOR signaling pathways.
FNIP1 was also shown to interact with HSP90 by coimmunoprecipitation in HEK293 cells.
Homology A comparison of FNIP1 proteins across species identified 5 blocks of conserved sequence with at least 35% similarity. FNIP1 homologs have been identified in Mus musculus, Gallus gallus, Xenopus tropicalis, Danio rerio, Drosophila melanogaster and Caenorhabditis elegans.

Implicated in

Note
Entity Birt-Hogg-Dube'(BHD) syndrome
Note FNIP1 interacts with FLCN, encoded by a novel tumor suppressor gene, BHD/FLCN, which is mutated in the germline of patients with BHD syndrome.
Disease Genodermatosis characterized by the triad of benign tumors of the hair follicle, spontaneous pneumothorax and kidney tumors
  

Bibliography

Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.
Nagase T, Kikuno R, Ohara O
DNA research : an international journal for rapid publication of reports on genes and genomes. 2001 ; 8 (6) : 319-327.
PMID 11853319
 
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL, Furihata M, Oishi S, Zhen W, Burke TR Jr, Linehan WM, Schmidt LS, Zbar B
Proceedings of the National Academy of Sciences of the United States of America. 2006 ; 103 (42) : 15552-15557.
PMID 17028174
 

Citation

This paper should be referenced as such :
Schmidt, LS
FNIP1 (folliculin interacting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(1):39-40.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/FNIP1ID44003ch5q23.html


External links

Nomenclature
HGNC (Hugo)FNIP1   29418
Cards
AtlasFNIP1ID44003ch5q23
Entrez_Gene (NCBI)FNIP1  96459  folliculin interacting protein 1
Aliases
GeneCards (Weizmann)FNIP1
Ensembl hg19 (Hinxton)ENSG00000217128 [Gene_View]  chr5:130977407-131132756 [Contig_View]  FNIP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000217128 [Gene_View]  chr5:130977407-131132756 [Contig_View]  FNIP1 [Vega]
ICGC DataPortalENSG00000217128
TCGA cBioPortalFNIP1
AceView (NCBI)FNIP1
Genatlas (Paris)FNIP1
WikiGenes96459
SOURCE (Princeton)FNIP1
Genomic and cartography
GoldenPath hg19 (UCSC)FNIP1  -     chr5:130977407-131132756 -  5q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FNIP1  -     5q23.3   [Description]    (hg38-Dec_2013)
EnsemblFNIP1 - 5q23.3 [CytoView hg19]  FNIP1 - 5q23.3 [CytoView hg38]
Mapping of homologs : NCBIFNIP1 [Mapview hg19]  FNIP1 [Mapview hg38]
OMIM610594   
Gene and transcription
Genbank (Entrez)AB075841 AK126675 AK292473 AL832008 AL834127
RefSeq transcript (Entrez)NM_001008738 NM_133372
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)FNIP1
Cluster EST : UnigeneHs.591273 [ NCBI ]
CGAP (NCI)Hs.591273
Alternative Splicing GalleryENSG00000217128
Gene ExpressionFNIP1 [ NCBI-GEO ]   FNIP1 [ EBI - ARRAY_EXPRESS ]   FNIP1 [ SEEK ]   FNIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)FNIP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)96459
GTEX Portal (Tissue expression)FNIP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TF40 (Uniprot)
NextProtQ8TF40  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TF40
Splice isoforms : SwissVarQ8TF40 (Swissvar)
PhosPhoSitePlusQ8TF40
Domains : Interpro (EBI)FNIP_C_dom    FNIP_fam    FNIP_mid_dom    FNIP_N_dom   
Domain families : Pfam (Sanger)FNIP_C (PF14638)    FNIP_M (PF14637)    FNIP_N (PF14636)   
Domain families : Pfam (NCBI)pfam14638    pfam14637    pfam14636   
DMDM Disease mutations96459
Blocks (Seattle)FNIP1
SuperfamilyQ8TF40
Human Protein AtlasENSG00000217128
Peptide AtlasQ8TF40
HPRD17233
IPIIPI00967726   
Protein Interaction databases
DIP (DOE-UCLA)Q8TF40
IntAct (EBI)Q8TF40
FunCoupENSG00000217128
BioGRIDFNIP1
STRING (EMBL)FNIP1
ZODIACFNIP1
Ontologies - Pathways
QuickGOQ8TF40
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  regulation of protein phosphorylation  positive regulation of protein phosphorylation  immature B cell differentiation  positive regulation of B cell apoptotic process  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cellular response to starvation  positive regulation of protein complex assembly  TOR signaling  negative regulation of TOR signaling  positive regulation of peptidyl-serine phosphorylation  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of GTPase activity  regulation of pro-B cell differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  regulation of protein phosphorylation  positive regulation of protein phosphorylation  immature B cell differentiation  positive regulation of B cell apoptotic process  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cellular response to starvation  positive regulation of protein complex assembly  TOR signaling  negative regulation of TOR signaling  positive regulation of peptidyl-serine phosphorylation  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of GTPase activity  regulation of pro-B cell differentiation  
NDEx Network
Atlas of Cancer Signalling NetworkFNIP1
Wikipedia pathwaysFNIP1
Orthology - Evolution
OrthoDB96459
GeneTree (enSembl)ENSG00000217128
Phylogenetic Trees/Animal Genes : TreeFamFNIP1
Homologs : HomoloGeneFNIP1
Homology/Alignments : Family Browser (UCSC)FNIP1
Gene fusions - Rearrangements
Fusion : MitelmanFNIP1/SUSD4 [5q31.1/1q41]  
Fusion : MitelmanRASA1/FNIP1 [5q14.3/5q31.1]  [t(5;5)(q14;q31)]  
Fusion: TCGAFNIP1 5q31.1 SUSD4 1q41 LUAD
Fusion: TCGARASA1 5q14.3 FNIP1 5q31.1 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerFNIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FNIP1
dbVarFNIP1
ClinVarFNIP1
1000_GenomesFNIP1 
Exome Variant ServerFNIP1
ExAC (Exome Aggregation Consortium)FNIP1 (select the gene name)
Genetic variants : HAPMAP96459
Genomic Variants (DGV)FNIP1 [DGVbeta]
Mutations
ICGC Data PortalFNIP1 
TCGA Data PortalFNIP1 
Broad Tumor PortalFNIP1
OASIS PortalFNIP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFNIP1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FNIP1
DgiDB (Drug Gene Interaction Database)FNIP1
DoCM (Curated mutations)FNIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FNIP1 (select a term)
intoGenFNIP1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:130977407-131132756  ENSG00000217128
CONAN: Copy Number AnalysisFNIP1 
Mutations and Diseases : HGMDFNIP1
OMIM610594   
MedgenFNIP1
Genetic Testing Registry FNIP1
NextProtQ8TF40 [Medical]
TSGene96459
GENETestsFNIP1
Huge Navigator FNIP1 [HugePedia]
snp3D : Map Gene to Disease96459
BioCentury BCIQFNIP1
ClinGenFNIP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD96459
Clinical trialFNIP1
Miscellaneous
canSAR (ICR)FNIP1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFNIP1
EVEXFNIP1
GoPubMedFNIP1
iHOPFNIP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jun 11 13:05:36 CEST 2016

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