KLHL40 Gene Summary [Human]
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | KLHL40 |
| Official Name | kelch like family member 40 [Source:HGNC Symbol;Acc:HGNC:30372] |
| Ensembl ID | ENSG00000157119 |
| Bio databases IDs | |
| Aliases | kelch like family member 40, sarcosynapsin, nemaline myopathy type 8 |
| Synonyms | 2310024D23Rik, KBTBD5, kelch-like 40, kelch-like family member 40, LOC686128, NEM8, SRYP, SYRP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KLHL40 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Galactose oxidase, central domain
- Kelch motif
- BTB And C-terminal Kelch
- Broad-Complex, Tramtrack and Bric a brac
- BTB_POZ
- BTB/POZ domain
- protein binding
- BACK (BTB and C-terminal Kelch) domain
- Kelch domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- sarcomere
- I band
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLHL40 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal muscle fiber development
- positive regulation of protein ubiquitination
- negative regulation of protein ubiquitination
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- I band
- A band
- Cul3-RING ubiquitin ligase complex
Molecular Function
What the gene product does at the molecular level
- protein binding