KLHL12 Gene Summary [Human]
This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | KLHL12 |
| Official Name | kelch like family member 12 [Source:HGNC Symbol;Acc:HGNC:19360] |
| Ensembl ID | ENSG00000117153 |
| Bio databases IDs | |
| Aliases | kelch like family member 12 |
| Synonyms | C3IP1, DKIR, kelch-like 12, kelch-like family member 12 |
| 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 KLHL12 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
- 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.
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
- intracellular membrane-bounded organelle
- cellular membrane
- centrosome
- cytosol
- transport vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLHL12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ER to Golgi vesicle-mediated transport
- neural crest cell development
- Wnt receptor signaling pathway
- protein monoubiquitination
- neural crest formation
- COPII vesicle coating
Cellular Component
Where in the cell the gene product is active
- centriolar satellite
- intracellular membrane-bounded organelle
- cytosol
- ER to Golgi transport vesicle
- Cul3-RING ubiquitin ligase complex
- COPII vesicle coat
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding