CCER1: Coiled-Coil Glutamate-Rich Protein 1
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular structure and signaling.
Gene Information Card
| Symbol | CCER1 |
|---|---|
| Full Name | Coiled-coil glutamate-rich protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000205726 |
| UniProt ID | A6NKD9 |
| OMIM ID | None |
| HGNC ID | HGNC:37272 |
| Aliases | FLJ45831, C12orf75 |
Description
CCER1 (coiled-coil glutamate-rich protein 1) is a protein-coding gene located on chromosome 12q24.31. The encoded protein contains a coiled-coil domain and is rich in glutamate residues. Its function is not fully characterized, but it may be involved in protein-protein interactions and cellular architecture. Expression data suggest low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 1.2 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| HeLa | 1.3 | Low expression |
| K562 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The CCER1 protein (UniProt A6NKD9) is a 244-amino acid polypeptide with a predicted coiled-coil region and high glutamate content. Its molecular function and biological role remain largely unknown, with no confirmed protein interactions or enzymatic activities reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCER1 Knockout HEK293 Cell Line | EDJ-KQ11559 | Human | 196477 | Details Get a Quote |
| CCER1 Knockout HeLa Cell Line | EDJ-KQ58972 | Human | 196477 | Details Get a Quote |
| CCER1 Knockout A-549 Cell Line | EDJ-KQ67457 | Human | 196477 | Details Get a Quote |
| CCER1 Knockout HCT 116 Cell Line | EDJ-KQ75853 | Human | 196477 | Details Get a Quote |
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