KLHL41 Gene Summary [Human]
This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
Details
| Type | Protein Coding |
| Official Symbol | KLHL41 |
| Official Name | kelch like family member 41 [Source:HGNC Symbol;Acc:HGNC:16905] |
| Ensembl ID | ENSG00000239474 |
| Bio databases IDs | |
| Aliases | kelch like family member 41, sarcomeric muscle protein |
| Synonyms | Gm112, KBTBD10, kelch-like 41, kelch-like family member 41, Kel-like protein 23, KRP1, SARCOSIN |
| 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 KLHL41 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.
disease
- nemaline myopathy type 9
- nemaline myopathy
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- oral submucous fibrosis
role in cell
- proliferation
- assembly
- differentiation
- length
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
- cytoskeleton
- Plasma Membrane
- sarcoplasmic reticulum
- sarcomere
- cytosol
- endoplasmic reticulum membrane
- membrane ruffles
- nucleoplasm
- pseudopodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLHL41 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- myofibril assembly
- regulation of myoblast proliferation
- skeletal muscle cell differentiation
- regulation of myoblast differentiation
- striated muscle contraction
- regulation of skeletal muscle cell differentiation
- pseudopodium assembly
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoskeleton
- cytoplasm
- ruffle
- cytosol
- pseudopodium
- Cul3-RING ubiquitin ligase complex
- M band
- plasma membrane
- sarcoplasmic reticulum membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding