FBXO38

This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Description

F-box protein 38

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Plasma membrane, Cytokinetic bridge, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (148383935 - 148442836)

Ensembl ID

ENSG00000145868  (ver. 103.38)

Orthologs

Mouse Fbxo38: ENSMUSG00000042211

UniProt

Q6PIJ6

neXtProt

NX_Q6PIJ6

Human splice variants
Mouse splice variants

Protein structure