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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

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 Oxyphilic Adenoma. 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

  • May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.

No data available for Entrez Gene 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
- Elite enhancer/Elite enhancer-gene association

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

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:
    • Forms homomultimers and heteromultimers with FNIP2. Interacts with FLCN (via C-terminus), with HSPCA and with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5-AMP-activated protein kinase (AMPK). Phosphorylated FLCN and AMPK are preferentially bound.
    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

Other Protein References for FNIP1 Gene

No data available for DME Specific Peptides for FNIP1 Gene

Domains & Families for FNIP1 Gene

Gene Families for FNIP1 Gene

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:
May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.

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
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

Flow Cytometry Products

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
Jensen Localization Image for FNIP1 Gene COMPARTMENTS Subcellular localization image for FNIP1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for FNIP1 Gene

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

Pathways & Interactions for FNIP1 Gene

SuperPathways for FNIP1 Gene

No Data Available

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 Pathways by source and 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

(2) 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

Flow Cytometry Products

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 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.
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 and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia FNIP1 34
  • 93.14 (n)
  • 94.17 (a)
FNIP1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FNIP1 34
  • 93.71 (n)
  • 94.51 (a)
FNIP1 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fnip1 34
  • 90.64 (n)
  • 91.5 (a)
Fnip1 16
Fnip1 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FNIP1 34
  • 99.77 (n)
  • 99.83 (a)
FNIP1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fnip1 34
  • 90.64 (n)
  • 91.5 (a)
oppossum
(Monodelphis domestica)
Mammalia FNIP1 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FNIP1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves FNIP1 34
  • 75.82 (n)
  • 79.73 (a)
FNIP1 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FNIP1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fnip1 34
  • 72.61 (n)
  • 73.53 (a)
zebrafish
(Danio rerio)
Actinopterygii fnip1 34
  • 63.3 (n)
  • 68.26 (a)
FNIP1 35
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3764 35
  • 7 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04C4.1 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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
rs7730228 - 131,731,032(+) ACTGC(A/C)GAGTT reference, missense
rs13177318 - 131,704,120(+) AATGT(A/G)AAAAA reference, missense
rs26008 - 131,672,501(+) TCATC(C/T)GGCAC reference, missense
rs12109782 - 131,672,232(+) AGGCA(A/C)AATCT reference, missense
rs7717874 - 131,671,914(+) TTCGA(C/T)TGAAT reference, missense

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

(2) MalaCards diseases for FNIP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
birt-hogg-dube syndrome
  • birt-hogg-dubé syndrome
oxyphilic adenoma
  • follicular adenoma, oxyphilic cell
- 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. (Proc. Natl. Acad. Sci. U.S.A. 2006) 2 3 4 65
  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 Res. 2001) 2 3 4 65
  3. Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. (PMID: 18663353) Takagi Y. … Hino O. (Oncogene 2008) 3 4 65
  4. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PMID: 18804346) Edwards T.L. … Chen X. (Schizophr. Res. 2008) 3 46 65
  5. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3 65

Products for FNIP1 Gene

Sources for FNIP1 Gene

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