FNIP1 - folliculin interacting protein 1 Gene

Also Known as IMD93

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 96459

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
Molecular Function GO Annotation Evidence References Source
enables ATPase inhibitor activity IDA
IDA: Inferred from direct assay
27353360 GOA
enables enzyme activator activity IDA
IDA: Inferred from direct assay
24081491 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
30699359 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17028174 GOA
enables protein-folding chaperone binding IDA
IDA: Inferred from direct assay
27353360 GOA
Biological Process GO Annotation Evidence References Source
involved in B cell differentiation IMP
IMP: Inferred from mutant phenotype
32905580 GOA
involved in TOR signaling IMP
IMP: Inferred from mutant phenotype
17028174 GOA
involved in negative regulation of lysosome organization IDA
IDA: Inferred from direct assay
37079666 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
21209915 GOA
involved in positive regulation of TOR signaling IDA
IDA: Inferred from direct assay
24081491 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: Inferred from direct assay
24081491 GOA
involved in positive regulation of peptidyl-serine phosphorylation IDA
IDA: Inferred from direct assay
19914239 GOA
involved in positive regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
17028174 GOA
involved in positive regulation of protein-containing complex assembly IDA
IDA: Inferred from direct assay
25126726 GOA
involved in regulation of protein phosphorylation IDA
IDA: Inferred from direct assay
18663353 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17028174 GOA
located in cytosol IDA
IDA: Inferred from direct assay
24081491 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
24081491 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1166 a.a.
Protein Preferred Names Protein Names

folliculin-interacting protein 1

FNIP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FNIP1 Q8TF40 FLCN Homo sapiens Q8NFG4 18403135
Cross
FNIP1 Q8TF40 ORF Human immunodeficiency virus Q9Q2G4 22190034
Intra
FNIP1 Q8TF40 GABARAP Homo sapiens O95166 20562859
Intra
FNIP1 Q8TF40 GABARAPL1 Homo sapiens Q9H0R8 20562859
Intra
FNIP1 Q8TF40 FNIP2 Homo sapiens Q9P278 18403135
Intra
FNIP1 Q8TF40 FNIP2 Homo sapiens Q9P278 18403135
Intra
FNIP1 Q8TF40 FNIP2 Homo sapiens Q9P278 18403135
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others FNIP1 NCBI