KLHL7 Gene Summary [Human]
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
Details
| Type | Processed Transcript |
| Official Symbol | KLHL7 |
| Official Name | kelch like family member 7 [Source:HGNC Symbol;Acc:HGNC:15646] |
| Ensembl ID | ENSG00000122550 |
| Bio databases IDs | |
| Aliases | kelch like family member 7, retinitis pigmentosa 42 |
| Synonyms | 2700038B03Rik, CISS3, D5ERTD363E, kelch-like 7, kelch-like family member 7, KLHL6, PERCHING, SBBI26 |
| 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 KLHL7 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 homodimerization
- BTB/POZ domain
- protein binding
- BACK (BTB and C-terminal Kelch) domain
- Kelch domain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- retinitis pigmentosa
- hepatocellular carcinoma
- liver cancer
- retinal dystrophy
- retinitis pigmentosa type 42
- cold-induced sweating syndrome 3
- Parkinson disease
- hereditary disorder
regulated by
- KLHL7
- sulforafan
role in cell
- colony formation
- degradation in
- cell viability
- ubiquitination in
- lenvatinib sensitivity
- K48 polyubiquitination in
- sorafenib sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- perinuclear region
- Plasma Membrane
- cytosol
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLHL7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- cytosol
- Cul3-RING ubiquitin ligase complex
- nucleolus
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- protein homodimerization activity