KL Gene Summary [Human]
This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | KL |
| Official Name | klotho [Source:HGNC Symbol;Acc:HGNC:6344] |
| Ensembl ID | ENSG00000133116 |
| Bio databases IDs | |
| Aliases | klotho, alpha-klotho |
| Synonyms | alpha-kl, alpha KLOTHO, HFTC3, KLA, KLOTHO, α-kl, α KLOTHO |
| 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 KL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- fibroblast growth factor binding
- kinase-like domain
- KL1 domain
- enzyme
- protein binding
- fibroblast growth factor receptor binding
- Glycosyl hydrolase family 1
- beta-galactosidase
- beta-glucosidase
- Glycosyl hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- neoplasia
- fibrosis
- colorectal cancer
- metastasis
- hyperphosphatemia
- atherosclerosis
- osteoporosis
- cardiac fibrosis
- pulmonary emphysema
role in cell
- cell viability
- expression in
- activation in
- phosphorylation in
- proliferation
- binding in
- accumulation in
- growth
- production in
- aggregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- cellular membrane
- Plasma Membrane
- brush border
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
- carbohydrate metabolic process
- calcium ion homeostasis
- response to vitamin D
- determination of adult lifespan
- negative regulation of systemic arterial blood pressure
- energy reserve metabolic process
- fibroblast growth factor receptor signaling pathway
- response to activity
- norepinephrine biosynthetic process
- positive regulation of bone mineralization
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- extracellular region
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- beta-glucosidase activity
- fibroblast growth factor binding
- vitamin D binding
- hormone activity
- beta-glucuronidase activity
- fibroblast growth factor receptor binding