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    FNIP1 folliculin interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 96459, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FNIP1provided by HGNC
    Official Full Name
    folliculin interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29418
    See related
    Ensembl:ENSG00000217128 MIM:610594; AllianceGenome:HGNC:29418
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMD93
    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 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]
    Expression
    Ubiquitous expression in testis (RPKM 9.3), thyroid (RPKM 7.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FNIP1 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131641714..131797017, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132161677..132316880, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (130977407..131132710, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CDC42 small effector 2 Neighboring gene uncharacterized LOC105379173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23054 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:130744412-130744593 Neighboring gene Rap guanine nucleotide exchange factor 6 Neighboring gene Sharpr-MPRA regulatory region 5338 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130970112-130970694 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:130970824-130972023 Neighboring gene ACTB pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16309 Neighboring gene meiotic kinetochore factor Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:131267911-131268464 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131293433-131293633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131329699-131330242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131330787-131331330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131337447-131338042 Neighboring gene acyl-CoA synthetase long chain family member 6 Neighboring gene ACSL6 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. van de Beek I, et al. J Hum Genet, 2023 Apr. PMID 36599954
    2. Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. Niehues T, et al. Eur J Immunol, 2020 Jul. PMID 32181500
    3. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Saettini F, et al. Blood, 2021 Jan 28. PMID 32905580, Free PMC Article
    4. A case of interdigitating dendritic cell sarcoma studied by whole-exome sequencing. Hong KH, et al. Genes Genomics, 2018 Dec. PMID 30099721
    5. Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. Glykofridis IE, et al. Elife, 2021 Jan 18. PMID 33459596, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Muscle-bone cross-talk through the FNIP1-TFEB-IGF2 axis is associated with bone metabolism in human and mouse.
      Title: Muscle-bone cross-talk through the FNIP1-TFEB-IGF2 axis is associated with bone metabolism in human and mouse.
    2. Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer.
      Title: Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer.
    3. Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1.
      Title: Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1.
    4. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
      Title: Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
    5. Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
      Title: Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
    6. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
      Title: Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
    7. A Cellular Mechanism to Detect and Alleviate Reductive Stress.
      Title: A Cellular Mechanism to Detect and Alleviate Reductive Stress.
    8. Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
      Title: Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
    9. casein kinase-2 phosphorylation of the co-chaperone folliculin-interacting protein 1 (FNIP1) on priming serine-938 and subsequent relay phosphorylation on serine-939, 941, 946, and 948 promotes its gradual interaction with Hsp90.
      Title: Post-translational Regulation of FNIP1 Creates a Rheostat for the Molecular Chaperone Hsp90.
    10. Based on previous studies and gene ontology database, we found that POLQ encoding DNA polymerase theta enzyme and FNIP1 encoding tumor suppressor folliculin-interacting protein might have contributed to the Interdigitating dendritic cell sarcoma (IDCS). Our study provides potential causative genetic factors of IDCS and plays a role in advancing the understanding of IDCS pathogenesis
      Title: A case of interdigitating dendritic cell sarcoma studied by whole-exome sequencing.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency 93 and hypertrophic cardiomyopathy
    MedGen: C5676899 OMIM: 619705 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with folliculin interacting protein 1 (FNIP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC667, KIAA1961, DKFZp781P0215, DKFZp686E18167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATPase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-folding chaperone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in B cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in TOR signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in immature B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cysteine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of lysosome organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of B cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of TOR signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of pro-B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    folliculin-interacting protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001008738.3 → NP_001008738.3  folliculin-interacting protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1, which results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC005593, AC008695
      Consensus CDS
      CCDS34226.1
      UniProtKB/TrEMBL
      A8K8V8
      Related
      ENSP00000309266.7, ENST00000307968.11
      Conserved Domains (3) summary
      pfam14636
      Location:41 → 155
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:288 → 520
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:948 → 1134
      FNIP_C; Folliculin-interacting protein C-terminus

    2. NM_001346113.2 → NP_001333042.2  folliculin-interacting protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' structure compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC005593, AC008695
      Consensus CDS
      CCDS87321.1
      Related
      ENSP00000425619.1, ENST00000511848.1
      Conserved Domains (2) summary
      pfam14636
      Location:41 → 155
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:316 → 507
      FNIP_M; Folliculin-interacting protein middle domain

    3. NM_001346114.2 → NP_001333043.1  folliculin-interacting protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' coding region compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC005593, AC008695, CA449088, CR936723
      Consensus CDS
      CCDS87320.1
      UniProtKB/TrEMBL
      A8K8V8, J3KNG8
      Related
      ENSP00000310453.8, ENST00000307954.12

    4. NM_133372.3 → NP_588613.3  folliculin-interacting protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC005593, AC008695
      Consensus CDS
      CCDS34227.1
      UniProtKB/Swiss-Prot
      D6RJH5, Q86T47, Q8TF40, Q9BUT0
      UniProtKB/TrEMBL
      A8K8V8
      Related
      ENSP00000421985.1, ENST00000510461.6
      Conserved Domains (3) summary
      pfam14636
      Location:41 → 155
      FNIP_N; Folliculin-interacting protein N-terminus
      pfam14637
      Location:316 → 548
      FNIP_M; Folliculin-interacting protein middle domain
      pfam14638
      Location:976 → 1162
      FNIP_C; Folliculin-interacting protein C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      131641714..131797017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      132161677..132316880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF40.3 GenPept UniProtKB/Swiss-Prot:Q8TF40

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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