1. Gene
  2. FBXO40 - F-box protein 40 Gene

FBXO40 - F-box protein 40 Gene

Homo sapiens

Also known as FBX40

Gene ID: 51725 | Gene type: protein coding

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