FBXO40 - F-box protein 40 Gene

Also Known as FBX40

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51725

About FBXO40

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:121,593,379-121,630,295 (from NCBI)

This gene has 1 transcript (splice variant), 308 orthologues and 1 paralogue. Restricted expression toward heart (RPKM 38.1).

Summary

Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through Other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO40 Products (1)

mRNA Protein Name
NM_016298.4 NP_057382.2 F-box only protein 40
Protein Preferred Names Protein Names

F-box only protein 40

  • muscle disease-related protein

Related Diseases

Diseases Alias
Limb-Girdle Muscular Dystrophy
  • Lgmd

  • Limb Girdle Muscular Dystrophy

  • Muscular Dystrophies, Limb-Girdle

  • Erb'S Muscular Dystrophy

  • Leyden-Mbius Muscular Dystrophy

  • Limb-Girdle Syndrome

  • Myopathic Limb-Girdle Syndrome

  • Limb Girdle

  • Muscular Dystrophy Limb-Girdle

  • Dystrophy, Muscular, Limb-Girdle

  • Lgmd - [Limb-Girdle Muscular Dystrophy]

  • Limb Girdle Muscle Dystrophy

  • Limb-Girdle Myopathy

Juvenile-Onset Parkinson'S Disease
  • Juvenile-Onset Parkinson Disease

Childhood Disintegrative Disease
  • Childhood Disintegrative Disorder

  • Disintegrative Psychosis

  • Heller'S Syndrome

  • Symbiotic Psychosis

  • Dementia Infantilis

  • Heller Syndrome

  • Shared Paranoid Disorder

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

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 FBXO40 RGD RGD:1309781
Canis familiaris FBXO40 VGNC VGNC:40780
Felis catus FBXO40 VGNC VGNC:62192
Macaca mulatta FBXO40 VGNC VGNC:72601
Mus musculus FBXO40 MGD MGI:2443753
Bos taurus FBXO40 VGNC VGNC:28911
Others FBXO40 NCBI