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

Gene ID: 96459, updated on 17-Mar-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
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Genomic context

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Location:
5q31.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131641714..131797017, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132161677..132316880, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1. Malik N, et al. Science, 2023 Apr 21. PMID 37079666, Free PMC Article
  2. 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
  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. 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
  5. A case of interdigitating dendritic cell sarcoma studied by whole-exome sequencing. Hong KH, et al. Genes Genomics, 2018 Dec. PMID 30099721

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1.
    Title: Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1.
  3. 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.
  4. 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.
  5. 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.
  6. A Cellular Mechanism to Detect and Alleviate Reductive Stress.
    Title: A Cellular Mechanism to Detect and Alleviate Reductive Stress.
  7. 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.
  8. 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.
  9. 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.
  10. The FLCN-FNIP complex deregulated in Birt-Hogg-Dube syndrome is absolutely required for B-cell differentiation.
    Title: The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 involved in apoptotic process 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 phosphorylation IMP
Inferred from Mutant Phenotype
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_2023_10

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

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