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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 93 and hypertrophic cardiomyopathy Pathogenic; Likely pathogenic rs2149501551, rs2149518317, rs2149504123, rs2149534097, rs2149504053, rs765464461 RCV001822073
RCV001822074
RCV001822075
RCV001822076
RCV001822077
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 25778476
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 18403135 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 27303042
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 32181500 Associate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 18403135, 29897930
★☆☆☆☆
Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1 Episodic Kinesigenic Dyskinesia BEFREE 29897930
★☆☆☆☆
Found in Text Mining only
Fibrofolliculoma Fibrofolliculoma BEFREE 23108783
★☆☆☆☆
Found in Text Mining only
Hurthle Cell Tumor Tumor BEFREE 18403135
★☆☆☆☆
Found in Text Mining only
Kidney Neoplasm Kidney Neoplasm BEFREE 18403135
★☆☆☆☆
Found in Text Mining only
Left Ventricular Hypertrophy Left Ventricular Hypertrophy BEFREE 27303042
★☆☆☆☆
Found in Text Mining only