CLTC Gene (Clathrin Heavy Chain)
Essential component of clathrin-coated vesicles involved in intracellular trafficking and endocytosis
Gene Information Card
| Symbol | CLTC |
|---|---|
| Full Name | Clathrin heavy chain |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.1 |
| NCBI Gene ID | 1213 ncbi.nlm.nih.gov/gene/1213 |
| Ensembl ID | ENSG00000141367 |
| UniProt ID | Q00610 |
| OMIM ID | 118955 |
| HGNC ID | 2092 |
| Aliases | CHC, CHC17, CLTCL2, Clathrin heavy chain 1 |
Description
The CLTC gene encodes the clathrin heavy chain, a major structural component of clathrin-coated vesicles. Clathrin mediates endocytosis and intracellular trafficking by forming a lattice around vesicles that bud from the plasma membrane and trans-Golgi network. CLTC is ubiquitously expressed and essential for cell viability. Mutations in CLTC are associated with neurodevelopmental disorders and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with seizures and language delay (NEDSLD) | Missense and truncating mutations disrupt clathrin-mediated endocytosis and synaptic vesicle recycling | ClinVar, OMIM |
| Intellectual disability | De novo mutations in CLTC impair neuronal trafficking | ClinVar, OMIM |
| Breast cancer | CLTC fusions (e.g., CLTC-ALK) and overexpression promote oncogenic signaling | COSMIC, NCBI |
| Lung adenocarcinoma | CLTC rearrangements and copy number alterations | COSMIC |
| Lymphoma | CLTC-ALK fusion drives anaplastic large cell lymphoma | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.2 | High |
| Heart | 25.1 | Medium |
| Liver | 22.8 | Medium |
| Kidney | 30.5 | High |
| Lung | 27.3 | Medium |
| Testis | 35.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.1 | High expression |
| HeLa | 38.5 | High expression |
| K562 | 29.8 | Medium expression |
| A549 | 31.2 | High expression |
| MCF7 | 33.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1615C>T (p.Arg539Cys) | Missense | Rare | Impaired clathrin assembly and endocytosis |
| c.2269G>A (p.Gly757Arg) | Missense | Rare | Disrupted clathrin light chain interaction |
| c.3346C>T (p.Arg1116*) | Nonsense | Very rare | Loss of function, truncated protein |
| CLTC-ALK fusion | Gene fusion | Recurrent in ALCL | Constitutive ALK activation, oncogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated clathrin heavy chain, reducing clathrin-mediated endocytosis efficiency.
Gain of Function (GOF)
CLTC-ALK fusions result in constitutive kinase activity, driving oncogenic signaling.
Dominant Negative (DN)
Missense mutations in the clathrin heavy chain can interfere with normal clathrin lattice formation, impairing vesicle trafficking.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (KEGG hsa04144)
• Synaptic vesicle cycle (KEGG hsa04721)
• Endocytosis (Reactome R-HSA-199991)
Protein Summary
Clathrin heavy chain (UniProt Q00610) is a 1675-amino acid protein that forms a triskelion structure with three heavy chains and three light chains. It assembles into a polyhedral lattice on the cytoplasmic side of membranes to drive vesicle formation. The protein contains an N-terminal propeller domain, a linker region, and a C-terminal hub domain that mediates trimerization and light chain binding. Post-translational modifications include phosphorylation and ubiquitination, regulating clathrin dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLTCL1 Knockout HEK293 Cell Line | EDJ-KQ2806 | Human | 8218 | Details Get a Quote |
| CLTCL1 Knockout HeLa Cell Line | EDJ-KQ22383 | Human | 8218 | Details Get a Quote |
| CLTCL1 Knockout A-549 Cell Line | EDJ-KQ23749 | Human | 8218 | Details Get a Quote |
| CLTCL1 Knockout HCT 116 Cell Line | EDJ-KQ23750 | Human | 8218 | Details Get a Quote |
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