KLHL6 Gene Summary [Human]
This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Details
| Type | Protein Coding |
| Official Symbol | KLHL6 |
| Official Name | kelch like family member 6 [Source:HGNC Symbol;Acc:HGNC:18653] |
| Ensembl ID | ENSG00000172578 |
| Bio databases IDs | |
| Aliases | kelch like family member 6, kelch-like protein KLHL6 |
| Synonyms | kelch-like 6, kelch-like family member 6 |
| 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 KLHL6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 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
- duodenal-type follicular lymphoma
- follicular non-Hodgkin disease
- duodenal cancer
- hypoplasia
- B-cell non-Hodgkin lymphoma
- B-cell non-Hodgkin disease
- advanced cancer
- limited-stage typical follicular lymphoma
- advanced-stage typical follicular lymphoma
role in cell
- number
- quantity
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLHL6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- germinal center formation
- response to bacterium
- B cell receptor signaling pathway
Molecular Function
What the gene product does at the molecular level
- protein binding