CLTA Gene - Clathrin Light Chain A
Essential component of clathrin-coated vesicles involved in intracellular trafficking
Gene Information Card
| Symbol | CLTA |
|---|---|
| Full Name | Clathrin Light Chain A |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 1211 ncbi.nlm.nih.gov/gene/1211 |
| Ensembl ID | ENSG00000122707 |
| UniProt ID | P09496 |
| OMIM ID | 118960 |
| HGNC ID | 2090 |
| Aliases | LCA, clathrin light chain A |
Description
CLTA encodes the light chain A of clathrin, a major protein component of the cytoplasmic face of intracellular organelles called coated vesicles and coated pits. Clathrin light chains (LCAs) associate with clathrin heavy chains to form the clathrin triskelion, which is essential for receptor-mediated endocytosis, synaptic vesicle recycling, and intracellular trafficking. CLTA is ubiquitously expressed and plays a critical role in membrane transport processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Mutations in CLTA disrupt clathrin-mediated endocytosis in neurons, leading to axonal degeneration. | PMID: 25255310 |
| Cancer (various) | Somatic mutations and altered expression of CLTA may affect vesicle trafficking and signaling pathways involved in tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Lung | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.1 | Medium |
| Kidney | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.1 | High expression |
| HeLa | 25.6 | High expression |
| A549 | 18.3 | Medium expression |
| K562 | 12.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
| c.112_113del (p.Leu38fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent CLTA protein, impairing clathrin function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may interfere with clathrin triskelion assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • clathrin-coated pit (GO:0005905) | • clathrin-coated vesicle (GO:0030136) |
| • endocytosis (GO:0006897) | • clathrin coat assembly (GO:0048268) |
| • protein binding (GO:0005515) |
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Synaptic vesicle cycle (KEGG: hsa04721)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
Clathrin light chain A (UniProt P09496) is a 248-amino acid protein that forms part of the clathrin triskelion. It interacts with clathrin heavy chain and regulates clathrin assembly and disassembly. The protein contains a conserved clathrin light chain domain and is involved in the formation of clathrin-coated vesicles for intracellular transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLTA Knockout HEK293 Cell Line | EDJ-KQ2164 | Human | 1211 | Details Get a Quote |
| CLTA Knockout A-549 Cell Line | EDJ-KQ22367 | Human | 1211 | Details Get a Quote |
| CLTA Knockout HCT 116 Cell Line | EDJ-KQ22368 | Human | 1211 | Details Get a Quote |
| CLTA Knockout HeLa Cell Line | EDJ-KQ22369 | Human | 1211 | Details Get a Quote |
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