1. Gene
  2. FNIP1 - folliculin interacting protein 1 Gene

FNIP1 - folliculin interacting protein 1 Gene

Homo sapiens

Also known as IMD93

Gene ID: 96459 | Gene type: protein coding

About FNIP1

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:131,641,714-131,797,017 (from NCBI)

This gene has 5 transcripts (splice variants), 186 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 9.3), thyroid (RPKM 7.7) and 25 other tissues.

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]

FNIP1 Products(4)

mRNA Protein Name
NM_001008738.3 NP_001008738.3 folliculin-interacting protein 1 isoform 2
NM_001346113.2 NP_001333042.2 folliculin-interacting protein 1 isoform 3
NM_001346114.2 NP_001333043.1 folliculin-interacting protein 1 isoform 4
NM_133372.3 NP_588613.3 folliculin-interacting protein 1 isoform 1

FNIP1 Protein Structure

FNIP_N

FNIP_N: Folliculin-interacting protein N-terminus (41 - 163)

FNIP_M

FNIP_M: Folliculin-interacting protein middle domain (314 - 550)

FNIP_C

FNIP_C: Folliculin-interacting protein C-terminus (975 - 1162)

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  • 1166 a.a.
Protein Preferred Names Protein Names

folliculin-interacting protein 1

Related Diseases

Diseases Alias
Immunodeficiency 93 And Hypertrophic Cardiomyopathy

IMD93

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome

Fibrofolliculomas With Trichodiscomas And Acrochordons

BHD

Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculoma Familial

Bhd Syndrome

Birt Hogg Dube Syndrome

Hornstein-Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculomas

Multilocular Clear Cell Renal Cell Carcinoma

Cystadenocarcinoma Of Kidney

Renal Cystadenocarcinoma

Pneumothorax, Primary Spontaneous

Primary Spontaneous Pneumothorax

Spontaneous Pneumothorax

Familial Spontaneous Pneumothorax

PSP

Pneumothorax

Familial Renal Oncocytoma
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Familial Renal Papillary Carcinoma

Hereditary Papillary Renal Carcinoma

Papillary Renal Cancer Hereditary

Leiomyoma Cutis

Cutaneous Leiomyoma

Leiomyoma Of The Skin

Dermis Tumor

Dermis Tumour

Neoplasm Of Dermis

Tumor Of Dermis

Tumour Of Dermis

Hereditary Renal Cell Carcinoma
Renal Oncocytoma

Oncocytoma, Renal

Oncocytoma Of Kidney

Renal Epithelial Oncocytic Tumor

Oncocytoma Kidney

Oncocytoma Renal

Kidney Oncocytoma

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FNIP1 RGD RGD:2318339
Felis catus FNIP1 VGNC VGNC:62325
Mus musculus FNIP1 MGD MGI:2444668
Bos taurus FNIP1 VGNC VGNC:29068
Canis familiaris FNIP1 VGNC VGNC:40935