CORO1A
Coronin 1A, a regulator of actin dynamics and immune function
Gene Information Card
| Symbol | CORO1A |
|---|---|
| Full Name | Coronin 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 11151 ncbi.nlm.nih.gov/gene/11151 |
| Ensembl ID | ENSG00000102879 |
| UniProt ID | P31146 |
| OMIM ID | 605000 |
| HGNC ID | 2252 |
| Aliases | CORO1, CLABP, CLIPINA, HCORO1, TACO |
Description
CORO1A encodes coronin 1A, a member of the coronin family of actin-binding proteins. It regulates actin cytoskeleton dynamics, cell motility, and phagocytosis. Coronin 1A is highly expressed in immune cells and is critical for T-cell migration, activation, and survival. Mutations in CORO1A cause severe combined immunodeficiency (SCID) due to impaired T-cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) due to CORO1A deficiency | Loss-of-function mutations impair actin dynamics and T-cell migration | OMIM #615401 |
| Immunodeficiency 10 (IMD10) | Autosomal recessive CORO1A mutations disrupt T-cell homeostasis | OMIM #615401 |
| T-cell lymphopenia | Reduced coronin 1A leads to defective thymic egress and peripheral T-cell survival | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 48.2 | High |
| Spleen | 35.1 | High |
| Lymph node | 30.8 | High |
| Bone marrow | 22.5 | Medium |
| Lung | 12.3 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 45.6 | High expression |
| HEK 293 (embryonic kidney) | 8.9 | Moderate expression |
| HeLa (cervical carcinoma) | 15.2 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 6.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.111_112delAG | Frameshift deletion | Rare | Loss of function; causes SCID |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature stop; loss of function |
| c.571G>A (p.Gly191Arg) | Missense | Rare | Impaired actin binding; reduced T-cell migration |
| c.832C>T (p.Arg278Trp) | Missense | Rare | Dominant-negative effect; associated with immunodeficiency |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.111_112delAG, p.Arg80*) lead to truncated or absent coronin 1A, causing SCID.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CORO1A.
Dominant Negative (DN)
Missense mutations such as p.Arg278Trp may exert dominant-negative effects by disrupting actin binding and oligomerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663222)
• Fcgamma receptor-mediated phagocytosis (Reactome R-HSA-2029480)
• Chemokine signaling pathway (KEGG hsa04062)
Protein Summary
Coronin 1A is a 461-amino acid protein with a WD40 repeat domain that mediates actin binding. It localizes to the cell cortex and lamellipodia, regulating actin filament turnover. In immune cells, coronin 1A is essential for T-cell receptor signaling, chemotaxis, and phagocytosis. Loss of function leads to severe combined immunodeficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CORO1A Knockout HEK293 Cell Line | EDJ-KQ2457 | Human | 11151 | Details Get a Quote |
| CORO1A Knockout A-549 Cell Line | EDJ-KQ22999 | Human | 11151 | Details Get a Quote |
| CORO1A Knockout HCT 116 Cell Line | EDJ-KQ23000 | Human | 11151 | Details Get a Quote |
| CORO1A Knockout HeLa Cell Line | EDJ-KQ23001 | Human | 11151 | Details Get a Quote |
| Coro1a Knockout RAW 264.7 Cell Line | EDJ-KZ167 | Mouse | 12721 | Details Get a Quote |
