COBLL1 Gene
Cordon-Bleu WH2 Repeat Protein Like 1
Gene Information Card
| Symbol | COBLL1 |
|---|---|
| Full Name | Cordon-Bleu WH2 Repeat Protein Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 22837 ncbi.nlm.nih.gov/gene/22837 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q53SF7 |
| OMIM ID | 610395 |
| HGNC ID | 24577 |
| Aliases | COBL-like 1, dJ1103G7.1 |
Description
COBLL1 encodes a protein similar to cordon-bleu, which contains WH2 (WASP homology 2) domains involved in actin cytoskeleton regulation. The gene is expressed in various tissues and may play a role in cell morphology and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Associated with body mass index regulation via GWAS; exact mechanism unclear | GWAS catalog (PMID: 25673413) |
| Type 2 diabetes | Risk locus identified in genome-wide association studies | GWAS catalog (PMID: 24509480) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Skeletal muscle | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 5.4 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.567delA (p.Lys189fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Lys189fs) are predicted to cause loss of function via nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • cytoskeleton |
| • cell migration | • plasma membrane |
Pathways
• Actin cytoskeleton regulation
• Rho GTPase signaling
Protein Summary
COBLL1 is a 1347-amino acid protein containing WH2 domains that bind actin monomers. It localizes to the cell cortex and may regulate actin dynamics, influencing cell shape and motility. Expression is enriched in adipose tissue and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COBLL1 Knockout HEK293 Cell Line | EDJ-KQ7686 | Human | 22837 | Details Get a Quote |
| COBLL1 Knockout A-549 Cell Line | EDJ-KQ33048 | Human | 22837 | Details Get a Quote |
| COBLL1 Knockout HCT 116 Cell Line | EDJ-KQ33049 | Human | 22837 | Details Get a Quote |
| COBLL1 Knockout HeLa Cell Line | EDJ-KQ33050 | Human | 22837 | Details Get a Quote |
