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chloride voltage-gated channel 5
Summary
- Gene Symbol
-
- CLCN5
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Alternative splicing
- Antiport
- CBS domain
- Cell membrane
- Chloride
- Disease variant
- Endosome
- Golgi apparatus
- Ion transport
- Proteomics identification
- Reference proteome
- Repeat
- Transmembrane helix
- Ubl conjugation
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| renal system process | ||
| chloride transport | ||
| endocytosis | ||
| ion transmembrane transport | ||
| monoatomic ion transmembrane transport |
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane | ||
| lysosomal membrane | ||
| early endosome | ||
| Golgi apparatus | ||
| Golgi apparatus |
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated chloride channel activity | ||
| voltage-gated chloride channel activity | ||
| protein binding | ||
| ATP binding | ||
| antiporter activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- H(+)/Cl(-) exchange transporter
- Functional Category
-
- E: Amino acid transport and metabolism
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| chloride transmembrane transport |
| chloride transport |
| monoatomic ion transport |
| voltage-gated chloride channel activity |
| InterPro |
|---|
| CBS domain superfamily |
| CBS domain |
| Chloride channel, core |
| Chloride channel, voltage gated |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080353 | X-linked recessive hypophosphatemic rickets | |
| DOID:0081453 | Dent disease 1 | |
| DOID:0111798 | X-linked nephrolithiasis type I | |
| DOID:0111815 | low molecular weight proteinuria with hypercalciuric nephrocalcinosis |
