CARMIL3
Capping Protein Regulator and Myosin 1 Linker 3
Gene Information Card
| Symbol | CARMIL3 |
|---|---|
| Full Name | Capping Protein Regulator and Myosin 1 Linker 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 90668 ncbi.nlm.nih.gov/gene/90668 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N7C3 |
| OMIM ID | 617622 |
| HGNC ID | 26952 |
| Aliases | LRRC16C, MGC26733 |
Description
CARMIL3 (Capping Protein Regulator and Myosin 1 Linker 3) is a protein-coding gene that encodes a member of the CARMIL family. The protein regulates actin capping protein (CP) activity and links myosin 1 to the actin cytoskeleton, influencing cell motility and morphology. CARMIL3 is expressed in various tissues and is implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of actin dynamics affecting cell migration and invasion | COSMIC database reports mutations in various cancers |
| Developmental disorders | Potential role in cytoskeletal organization during development | Inferred from gene function and expression patterns |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 10.7 | Cervical cancer cells |
| A549 | 8.9 | Lung carcinoma cells |
| K562 | 6.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | 0.01% | p.Val412Met; potential functional impact |
| c.567delC | Frameshift | <0.01% | Loss of function |
| c.890T>C | Synonymous | 0.02% | No amino acid change |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament binding |
| • protein binding | • cytoskeleton |
| • cell cortex | • lamellipodium |
Pathways
• Regulation of actin cytoskeleton
• Focal adhesion
Protein Summary
CARMIL3 is a 1,200-amino acid protein that contains an N-terminal leucine-rich repeat domain and a C-terminal CARMIL domain. It binds to capping protein (CP) and myosin 1, regulating actin filament dynamics at the cell periphery. The protein is involved in cell migration, adhesion, and morphogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARMIL3 Knockout HEK293 Cell Line | EDJ-KQ10629 | Human | 90668 | Details Get a Quote |
| CARMIL3 Knockout HeLa Cell Line | EDJ-KQ57782 | Human | 90668 | Details Get a Quote |
| CARMIL3 Knockout A-549 Cell Line | EDJ-KQ66279 | Human | 90668 | Details Get a Quote |
| CARMIL3 Knockout HCT 116 Cell Line | EDJ-KQ74697 | Human | 90668 | Details Get a Quote |
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