KLHL3 Gene Summary [Human]
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | KLHL3 |
| Official Name | kelch like family member 3 [Source:HGNC Symbol;Acc:HGNC:6354] |
| Ensembl ID | ENSG00000146021 |
| Bio databases IDs | |
| Aliases | kelch like family member 3 |
| Synonyms | 7530408C15RIK, AI430941, EG627648, kelch-like 3, kelch-like family member 3, LOC102549506, PHA2D, RGD1565218 |
| 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 KLHL3 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
- protein binding activity, bridging
- BTB/POZ domain
- protein binding
- BACK (BTB and C-terminal Kelch) domain
- structural molecule
- 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
- malaria
- autosomal recessive pseudohypoaldosteronism type IID
- pseudohypoaldosteronism type IIA
- pseudohypoaldosteronism type IID
- hereditary disorder
- heart failure
- autosomal dominant pseudohypoaldosteronism type IID
- atrial fibrillation
- chronic hyperchloremic metabolic acidosis
- primary prostate cancer
role in cell
- degradation in
- expression in
- proliferation
- binding in
- cell viability
- ubiquitination in
- macroautophagy in
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLHL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- renal sodium ion absorption
- proteasomal ubiquitin-dependent protein catabolic process
- protein K48-linked ubiquitination
- potassium ion homeostasis
- distal tubule morphogenesis
- gene expression
- ion homeostasis
- macroautophagy
- ubiquitin-dependent protein catabolic process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytosol
- Cul3-RING ubiquitin ligase complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- structural molecule activity