CALCOCO1
Calcium Binding and Coiled-Coil Domain 1
Gene Information Card
| Symbol | CALCOCO1 |
|---|---|
| Full Name | Calcium Binding and Coiled-Coil Domain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 57658 ncbi.nlm.nih.gov/gene/57658 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9P1Z2 |
| OMIM ID | 611205 |
| HGNC ID | 29912 |
| Aliases | CALCOCO1, KIAA1536, FLJ10858 |
Description
CALCOCO1 (Calcium Binding and Coiled-Coil Domain 1) encodes a protein that functions as an autophagy receptor, mediating selective autophagic degradation of protein aggregates and organelles. It contains a calcium-binding EF-hand domain and coiled-coil regions, and is involved in cellular stress responses and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect autophagy-mediated tumor suppression | COSMIC somatic mutations reported |
| Neurodegenerative disorders | Impaired autophagy receptor function may contribute to protein aggregation | Inferred from functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
| Heart | 15.1 | Medium |
| Kidney | 10.5 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.2 | High expression |
| HeLa | 14.5 | Medium expression |
| HepG2 | 9.8 | Low expression |
| K562 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% (COSMIC) | p.Pro412Ser; unknown functional impact |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature truncation likely impair autophagy receptor activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • calcium ion binding |
| • protein homodimerization activity | • cytoplasm |
| • autophagosome |
Pathways
• Autophagy - animal
• Selective autophagy
Protein Summary
The CALCOCO1 protein is a 693-amino acid autophagy receptor that localizes to the cytoplasm and autophagosomes. It binds calcium via its EF-hand domain and interacts with LC3/GABARAP family proteins to mediate selective autophagic degradation. It plays a role in cellular homeostasis and stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALCOCO1 Knockout HEK293 Cell Line | EDJ-KQ11973 | Human | 57658 | Details Get a Quote |
| CALCOCO1 Knockout A-549 Cell Line | EDJ-KQ41798 | Human | 57658 | Details Get a Quote |
| CALCOCO1 Knockout HCT 116 Cell Line | EDJ-KQ41799 | Human | 57658 | Details Get a Quote |
| CALCOCO1 Knockout HeLa Cell Line | EDJ-KQ41800 | Human | 57658 | Details Get a Quote |
