Fnip1 folliculin interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fnip1provided by MGI
Official Full Name: folliculin interacting protein 1provided by MGI
Primary source: MGI:MGI:2444668
See related: Ensembl:ENSMUSG00000035992 AllianceGenome:MGI:2444668
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: A730024A03Rik
Summary: Predicted to enable several functions, including ATPase inhibitor activity; enzyme activator activity; and protein-folding chaperone binding activity. Acts upstream of or within with a positive effect on negative regulation of cell population proliferation. Acts upstream of or within several processes, including negative regulation of TOR signaling; negative regulation of cysteine-type endopeptidase activity; and positive regulation of B cell apoptotic process. Located in cytoplasm. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human FNIP1 (folliculin interacting protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 4.7), placenta adult (RPKM 4.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 32.13 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (54328071..54409067)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (54438107..54518241)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
AMPK phosphorylation of FNIP1 (S220) controls mitochondrial function and muscle fuel utilization during exercise.
Title: AMPK phosphorylation of FNIP1 (S220) controls mitochondrial function and muscle fuel utilization during exercise.
FNIP1 abrogation promotes functional revascularization of ischemic skeletal muscle by driving macrophage recruitment.
Title: FNIP1 abrogation promotes functional revascularization of ischemic skeletal muscle by driving macrophage recruitment.
FNIP1 regulates adipocyte browning and systemic glucose homeostasis in mice by shaping intracellular calcium dynamics.
Title: FNIP1 regulates adipocyte browning and systemic glucose homeostasis in mice by shaping intracellular calcium dynamics.
AMPK-dependent and -independent coordination of mitochondrial function and muscle fiber type by FNIP1.
Title: AMPK-dependent and -independent coordination of mitochondrial function and muscle fiber type by FNIP1.
The results indicate that Fnip1 modulates autophagy and energy response pathways in part through the regulation of AMPK, mTORC1, and TFE3 in B cell progenitors.
Title: Folliculin Interacting Protein 1 Maintains Metabolic Homeostasis during B Cell Development by Modulating AMPK, mTORC1, and TFE3.
Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation
Title: Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.
These findings suggest that Dihydromyricetin treatment prevents palmitate-induced slow-twitch fibers decrease partially via FLCN-FNIP1-AMPK pathway thereby improving insulin resistance in obesity.
Title: Dihydromyricetin prevents obesity-induced slow-twitch-fiber reduction partially via FLCN/FNIP1/AMPK pathway.
FNIP1-deficient mice developed cardiomyopathy characterized by left ventricular hypertrophy and glycogen accumulation.
Title: Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
Mechanistically, miR-499 directly targets Fnip1, an AMP-activated protein kinase (AMPK)-interacting protein that negatively regulates AMPK, a known activator of PGC-1alpha. This miR-499/Fnip1/AMPK circuit can serve as a mechanism to couple muscle fiber type and mitochondrial function.
Title: Coupling of mitochondrial function and skeletal muscle fiber type by a miR-499/Fnip1/AMPK circuit.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (3)
Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236581

AI838773 (e-PCR)
- UniSTS:164464

AW557298 (e-PCR)
- UniSTS:180200

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables ATPase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme activator activity	IEA Inferred from Electronic Annotation more info
enables enzyme activator activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables protein-folding chaperone binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of B cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in B cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in TOR signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to starvation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immature B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect negative regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of cysteine-type endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of lysosome organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of B cell apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of B cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of TORC1 signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of pro-B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info

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 cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info

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)

NM_173753.4 → NP_776114.2 folliculin-interacting protein 1

See identical proteins and their annotated locations for NP_776114.2

Status: VALIDATED

Source sequence(s)

AL596127, BC079892, BY239060

Consensus CDS

CCDS24698.1

UniProtKB/Swiss-Prot

Q68FD7, Q80T72, Q8BQM0

Related

ENSMUSP00000049026.8, ENSMUST00000046835.14

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:975 → 1161

FNIP_C; Folliculin-interacting protein C-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

54328071..54409067

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532849.5 → XP_006532912.1 folliculin-interacting protein 1 isoform X3

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:947 → 1133

FNIP_C; Folliculin-interacting protein C-terminus
XM_006532847.5 → XP_006532910.1 folliculin-interacting protein 1 isoform X1

Conserved Domains (3) summary

pfam14636
Location:41 → 154

FNIP_N; Folliculin-interacting protein N-terminus

pfam14637
Location:315 → 547

FNIP_M; Folliculin-interacting protein middle domain

pfam14638
Location:974 → 1160

FNIP_C; Folliculin-interacting protein C-terminus
XM_006532848.4 → XP_006532911.1 folliculin-interacting protein 1 isoform X2

Conserved Domains (3) summary

pfam14636
Location:17 → 131

FNIP_N; Folliculin-interacting protein N-terminus

pfam14637
Location:292 → 524

FNIP_M; Folliculin-interacting protein middle domain

pfam14638
Location:951 → 1137

FNIP_C; Folliculin-interacting protein C-terminus