InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FBXO38

Summary

InnateDB Protein

IDBP-241702.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FBXO38

Protein Name

F-box protein 38

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000377895

InnateDB Gene

IDBG-52471 (FBXO38)

Protein Structure

UniProt Annotation

Function

Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not seem to promote KLF7 ubiquitination (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.

Disease Associations

Neuronopathy, distal hereditary motor, 2D (HMN2D) [MIM:615575]: A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal. {ECO:0000269PubMed:24207122}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.