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Aliases for FNIP1 Gene

Aliases for FNIP1 Gene

  • Folliculin Interacting Protein 1 2 3 5
  • KIAA1961 4

External Ids for FNIP1 Gene

Previous GeneCards Identifiers for FNIP1 Gene

  • GC00U921652
  • GC03M008999
  • GC05M130792
  • GC05M131006
  • GC05M130977
  • GC05M126169
  • GC05M130761

Summaries for FNIP1 Gene

Entrez Gene Summary for FNIP1 Gene

  • This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]

GeneCards Summary for FNIP1 Gene

FNIP1 (Folliculin Interacting Protein 1) is a Protein Coding gene. Diseases associated with FNIP1 include Birt-Hogg-Dube Syndrome and Pleural Disease. Among its related pathways are mTOR signaling pathway (KEGG). GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is FNIP2.

UniProtKB/Swiss-Prot for FNIP1 Gene

  • Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:17028174). May regulate phosphorylation of RPS6KB1 (PubMed:18663353).

Additional gene information for FNIP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FNIP1 Gene

Genomics for FNIP1 Gene

Regulatory Elements for FNIP1 Gene

Enhancers for FNIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H132292 1.8 FANTOM5 ENCODE dbSUPER 25.9 -498.0 -497957 5 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RAD50 AFF4 MIR3936HG IL4 FNIP1 ENSG00000202533 MIR3936 SLC22A5 ENSG00000224431 ENSG00000248648
GH05H131629 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +163.5 163455 7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RAPGEF6 MEIKIN FNIP1 LOC102723741 HINT1 CDC42SE2 GC05P131572
GH05H132452 2 FANTOM5 Ensembl ENCODE dbSUPER 10 -670.2 -670181 29 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 AFF4 RAD50 ZCCHC10 IL4 IRF1 SLC22A5 ENSG00000224431 LOC102723741 MIR3936HG C5orf56
GH05H131679 1.2 FANTOM5 ENCODE dbSUPER 14.8 +117.0 116970 0 FOSL1 SCRT2 CEBPB KDM1A ATF7 CEBPG FNIP1 CDC42SE2 GC05M131666 ENSG00000273217
GH05H131640 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +156.4 156427 1 HDAC1 LEF1 PKNOX1 TBL1XR1 TAL1 ETV1 CEBPG FOSL1 TCF12 POLR2A CDC42SE2 FNIP1 RAPGEF6 HINT1 GC05P131648
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FNIP1 on UCSC Golden Path with GeneCards custom track

Promoters for FNIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186768 563 3001 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 CBX5

Genomic Location for FNIP1 Gene

Chromosome:
5
Start:
131,641,714 bp from pter
End:
131,797,063 bp from pter
Size:
155,350 bases
Orientation:
Minus strand

Genomic View for FNIP1 Gene

Genes around FNIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FNIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FNIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FNIP1 Gene

Proteins for FNIP1 Gene

  • Protein details for FNIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF40-FNIP1_HUMAN
    Recommended name:
    Folliculin-interacting protein 1
    Protein Accession:
    Q8TF40
    Secondary Accessions:
    • D6RJH5
    • Q86T47
    • Q9BUT0

    Protein attributes for FNIP1 Gene

    Size:
    1166 amino acids
    Molecular mass:
    130555 Da
    Quaternary structure:
    • Homodimer and homomultimer. Heterodimer and heteromultimer with FNIP2 (PubMed:27353360, PubMed:18403135). Interacts with FLCN (via C-terminus) (PubMed:17028174, PubMed:27353360). Interacts with HSPCA and with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5-AMP-activated protein kinase (AMPK). Phosphorylated FLCN and AMPK are preferentially bound (PubMed:17028174). Interacts with HSP70, STIP1, PTGES3, CDC37, BRAF, GCR and CDK4. Interacts with HSP90AA1; the interaction inhibits HSP90AA1 ATPase activity (PubMed:27353360).
    Miscellaneous:
    • Elevated expression levels in histologic variants of renal tumors.

    Alternative splice isoforms for FNIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FNIP1 Gene

Post-translational modifications for FNIP1 Gene

No data available for DME Specific Peptides for FNIP1 Gene

Domains & Families for FNIP1 Gene

Gene Families for FNIP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FNIP1 Gene

Suggested Antigen Peptide Sequences for FNIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TF40

UniProtKB/Swiss-Prot:

FNIP1_HUMAN :
  • Belongs to the FNIP family.
Family:
  • Belongs to the FNIP family.
genes like me logo Genes that share domains with FNIP1: view

Function for FNIP1 Gene

Molecular function for FNIP1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways (PubMed:17028174). May regulate phosphorylation of RPS6KB1 (PubMed:18663353).

Phenotypes From GWAS Catalog for FNIP1 Gene

Gene Ontology (GO) - Molecular Function for FNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 22977732
GO:0005515 protein binding IPI 17028174
GO:0042030 ATPase inhibitor activity IDA 27353360
GO:0051087 chaperone binding IDA 27353360
genes like me logo Genes that share ontologies with FNIP1: view
genes like me logo Genes that share phenotypes with FNIP1: view

Animal Models for FNIP1 Gene

MGI Knock Outs for FNIP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FNIP1
  • Addgene plasmids for FNIP1
  • Applied Biological Materials Clones for FNIP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FNIP1 Gene

Localization for FNIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FNIP1 Gene

Cytoplasm. Note=Colocalizes with FLCN in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FNIP1 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 17028174
genes like me logo Genes that share ontologies with FNIP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FNIP1 Gene

Pathways & Interactions for FNIP1 Gene

SuperPathways for FNIP1 Gene

SuperPathway Contained pathways
1 mTOR signaling pathway (KEGG)
genes like me logo Genes that share pathways with FNIP1: view

Pathways by source for FNIP1 Gene

1 KEGG pathway for FNIP1 Gene

Gene Ontology (GO) - Biological Process for FNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 21209915
GO:0001932 regulation of protein phosphorylation IDA 18663353
GO:0001934 positive regulation of protein phosphorylation IMP 17028174
GO:0002327 immature B cell differentiation ISS --
GO:0002904 positive regulation of B cell apoptotic process ISS --
genes like me logo Genes that share ontologies with FNIP1: view

No data available for SIGNOR curated interactions for FNIP1 Gene

Drugs & Compounds for FNIP1 Gene

No Compound Related Data Available

Transcripts for FNIP1 Gene

mRNA/cDNA for FNIP1 Gene

(4) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FNIP1 Gene

Folliculin interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FNIP1
  • Addgene plasmids for FNIP1
  • Applied Biological Materials Clones for FNIP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for FNIP1 Gene

No ASD Table

Relevant External Links for FNIP1 Gene

GeneLoc Exon Structure for
FNIP1
ECgene alternative splicing isoforms for
FNIP1

Expression for FNIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FNIP1 Gene

Protein differential expression in normal tissues from HIPED for FNIP1 Gene

This gene is overexpressed in Testis (38.8) and Spleen (20.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FNIP1 Gene



Protein tissue co-expression partners for FNIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FNIP1 Gene:

FNIP1

SOURCE GeneReport for Unigene cluster for FNIP1 Gene:

Hs.591273

mRNA Expression by UniProt/SwissProt for FNIP1 Gene:

Q8TF40-FNIP1_HUMAN
Tissue specificity: Strong expression is found in the heart, liver placenta, muscle, nasal mucosa, salivary gland and uvula and moderate expression in kidney and lung. Higher levels detected in clear cell renal cell carcinoma (RCC) and chromophobe RCC than in normal kidney tissue.

Evidence on tissue expression from TISSUES for FNIP1 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Lung(4.3)
  • Muscle(4.3)
  • Eye(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with FNIP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FNIP1 Gene

Orthologs for FNIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FNIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FNIP1 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia FNIP1 33 34
  • 93.71 (n)
cow
(Bos Taurus)
Mammalia FNIP1 33 34
  • 93.14 (n)
mouse
(Mus musculus)
Mammalia Fnip1 33 16 34
  • 90.64 (n)
rat
(Rattus norvegicus)
Mammalia Fnip1 33
  • 90.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FNIP1 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FNIP1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FNIP1 33 34
  • 75.82 (n)
lizard
(Anolis carolinensis)
Reptilia FNIP1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fnip1 33
  • 72.61 (n)
zebrafish
(Danio rerio)
Actinopterygii FNIP1 34
  • 66 (a)
OneToOne
fnip1 33
  • 63.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3764 34
  • 7 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04C4.1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for FNIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FNIP1 Gene

ENSEMBL:
Gene Tree for FNIP1 (if available)
TreeFam:
Gene Tree for FNIP1 (if available)

Paralogs for FNIP1 Gene

Paralogs for FNIP1 Gene

(2) SIMAP similar genes for FNIP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FNIP1: view

Variants for FNIP1 Gene

Sequence variations from dbSNP and Humsavar for FNIP1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000029077 -- 131,765,953(+) CTGCT(A/G)TTTCA intron-variant
rs1000033261 -- 131,741,094(+) TTGCC(A/G)TTCTT intron-variant
rs1000044854 -- 131,654,866(+) AAATA(C/T)ACCTT intron-variant
rs1000075929 -- 131,654,586(+) TCTAG(C/T)TTTAA intron-variant
rs1000091516 -- 131,683,771(+) AGTCT(A/G)TTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FNIP1 Gene

Variant ID Type Subtype PubMed ID
esv1136463 CNV deletion 17803354
esv1591239 CNV deletion 17803354
esv2730780 CNV deletion 23290073
esv2730781 CNV deletion 23290073
esv2730782 CNV deletion 23290073
esv3570416 CNV loss 25503493
esv3575881 CNV gain 25503493
esv990609 CNV deletion 20482838
nsv1032888 CNV loss 25217958
nsv1074871 CNV deletion 25765185
nsv1117579 CNV deletion 24896259
nsv968984 CNV duplication 23825009

Variation tolerance for FNIP1 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FNIP1 Gene

Human Gene Mutation Database (HGMD)
FNIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FNIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FNIP1 Gene

Disorders for FNIP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FNIP1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
birt-hogg-dube syndrome
  • birt-hogg-dubé syndrome
pleural disease
  • disorder of pleura
clear cell renal cell carcinoma
  • clear cell rcc
- elite association - COSMIC cancer census association via MalaCards
Search FNIP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FNIP1

Genetic Association Database (GAD)
FNIP1
Human Genome Epidemiology (HuGE) Navigator
FNIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FNIP1
genes like me logo Genes that share disorders with FNIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FNIP1 Gene

Publications for FNIP1 Gene

  1. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. (PMID: 17028174) Baba M … Zbar B (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 4 60
  2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  3. The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding. (PMID: 27353360) Woodford MR … Mollapour M (Nature communications 2016) 3 4 60
  4. Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. (PMID: 18663353) Takagi Y … Hino O (Oncogene 2008) 3 4 60
  5. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PMID: 18804346) Edwards TL … Chen X (Schizophrenia research 2008) 3 45 60

Products for FNIP1 Gene

  • Addgene plasmids for FNIP1
  • Addgene plasmids for FNIP1

Sources for FNIP1 Gene

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