• Gene id: 96459

Gene Summary

• Gene Symbol: FNIP1   Gene   UCSC   Ensembl
• Gene name: folliculin interacting protein 1
• Alternate names: folliculin-interacting protein 1,
• Gene location: 5q31.1 (131797016: 131641713)     Exons: 18     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 610594

Protein Summary

• Protein general information: Q8TF40  
  • Name: Folliculin interacting protein 1
  • Length: 1166  
  • Mass: 130555
  • 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 tha
• Sequence:

  MAPTLFQKLFSKRTGLGAPGRDARDPDCGFSWPLPEFDPSQIRLIVYQDCERRGRNVLFDSSVKRRNEDISVSKL
  GSDAQVKVFGKCCQLKPGGDSSSSLDSSVTSSSDIKDQCLKYQGSRCSSDANMLGEMMFGSVAMSYKGSTLKIHQ
  IRSPPQLMLSKVFTARTGSSICGSLNTLQDSLEFINQDNNTLKADNNTVINGLLGNIGLSQFCSPRRAFSEQGPL
  RLIRSASFFAVHSNPMDMPGRELNEDRDSGIARSASLSSLLITPFPSPNSSLTRSCASSYQRRWRRSQTTSLENG
  VFPRWSIEESFNLSDESCGPNPGIVRKKKIAIGVIFSLSKDEDENNKFNEFFFSHFPLFESHMNKLKSAIEQAMK
  MSRRSADASQRSLAYNRIVDALNEFRTTICNLYTMPRIGEPVWLTMMSGTPEKNHLCYRFMKEFTFLMENASKNQ
  FLPALITAVLTNHLAWVPTVMPNGQPPIKIFLEKHSSQSVDMLAKTHPYNPLWAQLGDLYGAIGSPVRLARTVVV
  GKRQDMVQRLLYFLTYFIRCSELQETHLLENGEDEAIVMPGTVITTTLEKGEIEESEYVLVTMHRNKSSLLFKES
  EEIRTPNCNCKYCSHPLLGQNVENISQQEREDIQNSSKELLGISDECQMISPSDCQEENAVDVKQYRDKLRTCFD
  AKLETVVCTGSVPVDKCALSESGLESTEETWQSEKLLDSDSHTGKAMRSTGMVVEKKPPDKIVPASFSCEAAQTK
  VTFLIGDSMSPDSDTELRSQAVVDQITRHHTKPLKEERGAIDQHQETKQTTKDQSGESDTQNMVSEEPCELPCWN
  HSDPESMSLFDEYFNDDSIETRTIDDVPFKTSTDSKDHCCMLEFSKILCTKNNKQNNEFCKCIETVPQDSCKTCF
  PQQDQRDTLSILVPHGDKESSDKKIAVGTEWDIPRNESSDSALGDSESEDTGHDMTRQVSSYYGGEQEDWAEEDE
  IPFPGSKLIEVSAVQPNIANFGRSLLGGYCSSYVPDFVLQGIGSDERFRQCLMSDLSHAVQHPVLDEPIAEAVCI
  IADMDKWTVQVASSQRRVTDNKLGKEVLVSSLVSNLLHSTLQLYKHNLSPNFCVMHLEDRLQELYFKSKMLSEYL
  RGQMRVHVKELGVVLGIESSDLPLLAAVASTHSPYVAQILL

• Structural information:
  • Protein Domains: (37..47-)
    (/note="uDENN-FNIP1/2-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01180-)
    (486..109-)
    (/note="cDENN-FNIP1/2-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01180-)
    (1102..115-)
    (/note="dDENN-FNIP1/2-type)
    (/evidence="E-)
  • Interpro: IPR037545  IPR028086  IPR026156  IPR028085  IPR028084  
  • Prosite: PS51836
  • DIP: 57169
  • STRING: ENSP00000421985
• Other Databases: GeneCards:  FNIP1  Malacards:  FNIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031334	positive regulation of protein-containing complex assembly	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1904262	negative regulation of TORC1 signaling	IBA	biological process
GO:0051087	chaperone binding	IBA	molecular function
GO:0042030	ATPase inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001932	regulation of protein phosphorylation	IDA	biological process
GO:0042030	ATPase inhibitor activity	IDA	molecular function
GO:0051087	chaperone binding	IDA	molecular function
GO:0051087	chaperone binding	IDA	molecular function
GO:0042030	ATPase inhibitor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002327	immature B cell differentiation	IEA	biological process
GO:0002904	positive regulation of B cell apoptotic process	IEA	biological process
GO:0010823	negative regulation of mitochondrion organization	IEA	biological process
GO:2000973	regulation of pro-B cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0009267	cellular response to starvation	IEA	biological process
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:1904262	negative regulation of TORC1 signaling	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0032007	negative regulation of TOR signaling	ISS	biological process
GO:0031929	TOR signaling	IMP	biological process
GO:0009267	cellular response to starvation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:2000973	regulation of pro-B cell differentiation	ISS	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002904	positive regulation of B cell apoptotic process	ISS	biological process
GO:0002327	immature B cell differentiation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq