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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
klotho
Summary
- Gene Symbol
-
- KL
- Aliases
-
- KLA
- alpha-klotho
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Disease variant
- Glycoprotein
- Glycosidase
- Hormone
- Reference proteome
- Repeat
- Secreted
- Signal
- Transmembrane helix
- Vitamin D
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9UEF7 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway | ||
| carbohydrate metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane | ||
| apical plasma membrane | ||
| plasma membrane | ||
| extracellular region | ||
| extracellular space |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| fibroblast growth factor binding | ||
| fibroblast growth factor receptor binding | ||
| vitamin D binding | ||
| hormone activity | ||
| beta-glucosidase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- BETA-GLUCOSIDASE
- Functional Category
-
- E: Amino acid transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
- T: Signal transduction mechanisms
| InterPro |
|---|
| Glycoside hydrolase family 1 |
| Glycoside hydrolase superfamily |
| Glycosyl hydrolases family 1, N-terminal conserved site |
Rhea
Disease
- Disease Ontology
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000103 | Polyuria |
| HP:0000787 | Nephrolithiasis |
| HP:0000938 | Osteopenia |
| HP:0001959 | Polydipsia |
| HP:0002315 | Headache |
| HP:0002514 | Cerebral calcification |
| HP:0002905 | Hyperphosphatemia |
| HP:0003072 | Hypercalcemia |
| HP:0003165 | Elevated circulating parathyroid hormone level |
| Disease ID | Disease Name |
|---|---|
| OMIM:617994 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 100080076 | ORNAN13621 | |||
| 100356074 | RABIT14134 | |||
| 100390871 | CALJA35993 | |||
| 100439507 | 9601_0:003684 | PONAB06909 | ||
| 100473623 | AILME13804 | |||
| 100490988 | Xenbase:XB-GENE-984425 | |||
| 100519728 | PIGXX01060 | |||
| 100617982 | MONDO25020 | |||
| 100669095 | LOXAF15074 | |||
| 100917671 | SARHA00873 |
