Gene Gene information from NCBI Gene database.
Entrez ID 96459
Gene name Folliculin interacting protein 1
Gene symbol FNIP1
Synonyms (NCBI Gene)
IMD93
Chromosome 5
Chromosome location 5q31.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
808
miRTarBase ID miRNA Experiments Reference
MIRT021199 hsa-miR-186-5p Sequencing 20371350
MIRT049426 hsa-miR-92a-3p qRT-PCR 23622248
MIRT052578 hsa-let-7a-5p CLASH 23622248
MIRT052578 hsa-let-7a-5p CLASH 23622248
MIRT049426 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 21209915
GO:0001783 Process B cell apoptotic process IEA
GO:0002327 Process Immature B cell differentiation IEA
GO:0002327 Process Immature B cell differentiation ISS
GO:0002904 Process Positive regulation of B cell apoptotic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610594 29418 ENSG00000217128
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TF40
Protein name Folliculin-interacting protein 1
Protein function Binding partner of the GTPase-activating protein FLCN: involved in the cellular response to amino acid availability by regulating the non-canonical mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 (PubMed:17028174, PubMed:1
PDB 8JE2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14636 FNIP_N 41 159 Folliculin-interacting protein N-terminus Family
PF14637 FNIP_M 316 549 Folliculin-interacting protein middle domain Family
PF14638 FNIP_C 976 1162 Folliculin-interacting protein C-terminus Family
Tissue specificity 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
MAPTLFQKLFSKRTGLGAPGRDARDPDCGFSWPLPEFDPSQIRLIVYQDCERRGRNVLFD
SSVKRRNEDISVSKLGSDAQVKVFGKCCQLKPGGDSSSSLDSSVTSSSDIKDQCLKYQGS
RCSSDANMLGEMMFGSVAMSYKGSTLKIHQIRSPPQLML
SKVFTARTGSSICGSLNTLQD
SLEFINQDNNTLKADNNTVINGLLGNIGLSQFCSPRRAFSEQGPLRLIRSASFFAVHSNP
MDMPGRELNEDRDSGIARSASLSSLLITPFPSPNSSLTRSCASSYQRRWRRSQTTSLENG
VFPRWSIEESFNLSDESCGPNPGIVRKKKIAIGVIFSLSKDEDENNKFNEFFFSHFPLFE
SHMNKLKSAIEQAMKMSRRSADASQRSLAYNRIVDALNEFRTTICNLYTMPRIGEPVWLT
MMSGTPEKNHLCYRFMKEFTFLMENASKNQFLPALITAVLTNHLAWVPTVMPNGQPPIKI
FLEKHSSQSVDMLAKTHPYNPLWAQLGDLYGAIGSPVRLARTVVVGKRQDMVQRLLYFLT
YFIRCSELQ
ETHLLENGEDEAIVMPGTVITTTLEKGEIEESEYVLVTMHRNKSSLLFKES
EEIRTPNCNCKYCSHPLLGQNVENISQQEREDIQNSSKELLGISDECQMISPSDCQEENA
VDVKQYRDKLRTCFDAKLETVVCTGSVPVDKCALSESGLESTEETWQSEKLLDSDSHTGK
AMRSTGMVVEKKPPDKIVPASFSCEAAQTKVTFLIGDSMSPDSDTELRSQAVVDQITRHH
TKPLKEERGAIDQHQETKQTTKDQSGESDTQNMVSEEPCELPCWNHSDPESMSLFDEYFN
DDSIETRTIDDVPFKTSTDSKDHCCMLEFSKILCTKNNKQNNEFCKCIETVPQDSCKTCF
PQQDQRDTLSILVPHGDKESSDKKIAVGTEWDIPRNESSDSALGDSESEDTGHDMTRQVS
SYYGGEQEDWAEEDEIPFPGSKLIEVSAVQPNIANFGRSLLGGYCSSYVPDFVLQGIGSD
ERFRQCLMSDLSHAVQHPVLDEPIAEAVCIIADMDKWTVQVASSQRRVTDNKLGKEVLVS
SLVSNLLHSTLQLYKHNLSPNFCVMHLEDRLQELYFKSKMLSEYLRGQMRVHVKELGVVL
GIESSDLPLLAAVASTHSPYVA
QILL
Sequence length 1166
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway   Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
26
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 93 and hypertrophic cardiomyopathy Pathogenic; Likely pathogenic rs2149501551, rs2149518317, rs2149504123, rs2149534097, rs2149504053, rs765464461 RCV001822073
RCV001822074
RCV001822075
RCV001822076
RCV001822077
RCV003990597
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign rs115209326, rs139117851 RCV005919001
RCV005928778
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity; Uncertain significance rs115209326, rs138667282 RCV005919003
RCV005926626
Familial cancer of breast Conflicting classifications of pathogenicity; Uncertain significance rs115209326, rs143334697 RCV005919000
RCV005926460
FNIP1-related disorder Conflicting classifications of pathogenicity; Uncertain significance rs115209326, rs770632116 RCV003910907
RCV003419099
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Oxyphilic Associate 18403135
Carcinoma Renal Cell Associate 18403135
Cardiomyopathies Associate 32181500
Immunologic Deficiency Syndromes Associate 32181500
Neoplasms Associate 18403135, 27353360
Pre Excitation Syndromes Associate 32181500
Stomach Neoplasms Associate 37341987