FNIP1 folliculin interacting protein 1
Gene ID: 96459, updated on 14-Nov-2024Gene type: protein coding
Also known as: IMD93
- See all available tests in GTR for this gene
- Go to complete Gene record for FNIP1
- Go to Variation Viewer for FNIP1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Immunodeficiency 93 and hypertrophic cardiomyopathy | not available |
Genomic context
- Location:
- 5q31.1
- Sequence:
- Chromosome: 5; NC_000005.10 (131641714..131797017, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FNIP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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