FNIP1 Chromosome 5
Folliculin interacting protein 1
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What This Gene Does
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]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000217128
Associated Conditions (9)
Uterine corpus endometrial carcinoma
Familial cancer of breast
Malignant tumor of esophagus
FNIP1-related disorder
Clear cell carcinoma of kidney
Gastric cancer
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Immunodeficiency 93 and hypertrophic cardiomyopathy
Key Variants
RS115209326
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Familial cancer of breast, Malignant tumor of esophagus
Health Risk
RS765464461
Likely pathogenic
Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
Health Risk
RS781076149
Likely pathogenic
Health Risk
RS1321818658
Pathogenic
Health Risk
RS1768796944
Pathogenic
Health Risk
RS2149501551
Pathogenic
Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
Health Risk
RS2149504053
Pathogenic
Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
Health Risk
RS2149504123
Pathogenic
Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
Health Risk
RS2149518317
Pathogenic
Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
Health Risk
RS2149534097
Pathogenic
Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy
Health Risk
RS2532125261
Pathogenic
Health Risk
RS2532125524
Pathogenic
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115209326 | Health Risk | Conflicting classifications of pathogenicity | Uterine corpus endometrial carcinoma, Familial cancer of breast, Malignant tumor of esophagus |
| RS765464461 | Health Risk | Likely pathogenic | Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy |
| RS781076149 | Health Risk | Likely pathogenic | — |
| RS1321818658 | Health Risk | Pathogenic | — |
| RS1768796944 | Health Risk | Pathogenic | — |
| RS2149501551 | Health Risk | Pathogenic | Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy |
| RS2149504053 | Health Risk | Pathogenic | Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy |
| RS2149504123 | Health Risk | Pathogenic | Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy |
| RS2149518317 | Health Risk | Pathogenic | Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy |
| RS2149534097 | Health Risk | Pathogenic | Immunodeficiency 93 and hypertrophic cardiomyopathy, Immunodeficiency 93 and hypertrophic cardiomyopathy |
| RS2532125261 | Health Risk | Pathogenic | — |
| RS2532125524 | Health Risk | Pathogenic | — |
| RS2532127475 | Health Risk | Pathogenic | — |
| RS2532128437 | Health Risk | Pathogenic | — |
| RS2532139612 | Health Risk | Pathogenic | — |