CLBA1 Gene: Function, Expression, and Clinical Significance
Comprehensive overview of CLBA1 (Clathrin Binding Protein 1), including genomic context, expression patterns, and disease associations.
Gene Information Card
| Symbol | CLBA1 |
|---|---|
| Full Name | Clathrin Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000235169 |
| UniProt ID | A0A0A0MS03 |
| OMIM ID | 618447 |
| HGNC ID | 53815 |
| Aliases | C1orf216 |
Description
CLBA1 (Clathrin Binding Protein 1) is a protein-coding gene located on chromosome 1p36.13. It encodes a protein that binds clathrin, a key component of clathrin-coated vesicles involved in intracellular trafficking. The gene is expressed in various tissues, with highest expression in the brain and testis. CLBA1 has been implicated in certain cancers and neurodevelopmental disorders, though its precise functions are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and speech delay | Loss-of-function mutations in CLBA1 disrupt clathrin-mediated synaptic vesicle recycling, affecting neuronal function. | ClinVar: Pathogenic variants reported in patients; OMIM: 618447 |
| Colorectal cancer | Altered expression of CLBA1 may affect clathrin-mediated endocytosis, influencing cell proliferation and invasion. | COSMIC: Somatic mutations and differential expression observed in colorectal cancer samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Testis | 10.1 | High |
| Lung | 5.2 | Medium |
| Liver | 2.1 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | High expression; used in neuronal studies |
| HeLa (cervical carcinoma) | 8.7 | Moderate expression |
| HCT116 (colorectal carcinoma) | 6.3 | Moderate expression; relevant to cancer studies |
| MCF7 (breast carcinoma) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare (0.01% in gnomAD) | Loss of function; associated with neurodevelopmental disorder |
| c.567_568del (p.Glu190fs) | Frameshift | Not reported in population databases | Loss of function; likely pathogenic |
| c.890A>G (p.Gln297Arg) | Missense | 0.05% in gnomAD | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift) lead to truncated or absent protein, impairing clathrin binding and vesicle trafficking, resulting in neurodevelopmental phenotypes.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CLBA1; current data support loss-of-function as the primary mechanism.
Dominant Negative (DN)
No evidence of dominant-negative effects; haploinsufficiency is likely for disease causation.
View complete mutation data：
Gene Ontology (GO)
| • clathrin binding | • intracellular protein transport |
| • clathrin-coated vesicle | • synaptic vesicle recycling |
Pathways
• Clathrin-mediated endocytosis
• Neurotransmitter release cycle
Protein Summary
The CLBA1 protein is a clathrin-binding protein involved in clathrin-mediated endocytosis. It localizes to clathrin-coated vesicles and plays a role in intracellular trafficking, particularly in neurons where it contributes to synaptic vesicle recycling. The protein contains a clathrin-binding domain and is essential for proper vesicle formation and cargo selection. Structural studies suggest it may interact with AP-2 and other endocytic adaptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLBA1 Knockout HEK293 Cell Line | EDJ-KQ8156 | Human | 122616 | Details Get a Quote |
| CLBA1 Knockout A-549 Cell Line | EDJ-KQ34066 | Human | 122616 | Details Get a Quote |
| CLBA1 Knockout HCT 116 Cell Line | EDJ-KQ34067 | Human | 122616 | Details Get a Quote |
| CLBA1 Knockout HeLa Cell Line | EDJ-KQ34068 | Human | 122616 | Details Get a Quote |
