CCSER1 Gene - Coiled-Coil Serine Rich Protein 1
A gene encoding a serine-rich coiled-coil protein with potential roles in cell signaling and cancer.
Gene Information Card
| Symbol | CCSER1 |
|---|---|
| Full Name | Coiled-Coil Serine Rich Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 387911 ncbi.nlm.nih.gov/gene/387911 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q5T0D9 |
| OMIM ID | 617740 |
| HGNC ID | 29387 |
| Aliases | C12orf34, FLJ32709, MGC138290 |
Description
CCSER1 (Coiled-Coil Serine Rich Protein 1) is a protein-coding gene located on chromosome 12q24.31. The encoded protein contains coiled-coil domains and is rich in serine residues, suggesting roles in protein-protein interactions and phosphorylation-mediated signaling. Expression data indicate broad tissue distribution with potential involvement in cell cycle regulation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence tumor progression; specific mechanism not fully elucidated. | COSMIC, ClinVar |
| Colorectal cancer | Mutations and copy number alterations reported in cancer genomes. | COSMIC |
| Lung cancer | Somatic mutations observed in adenocarcinoma samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 7.1 | Basal expression |
| A549 (lung cancer) | 5.9 | Moderate |
| HCT116 (colorectal cancer) | 4.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature truncation, likely loss of function |
| c.567G>A (p.Glu189Lys) | Missense | <0.1% | Unknown functional impact |
| c.890_891insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants are predicted to cause loss of function through premature truncation or altered reading frame.
Gain of Function (GOF)
No gain-of-function mutations currently documented in curated databases.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Not assigned to any canonical pathway in Reactome or KEGG.
Protein Summary
The CCSER1 protein (UniProt Q5T0D9) is a 789-amino acid polypeptide containing coiled-coil regions and a high proportion of serine residues. It is predicted to localize to the cytoplasm and nucleus, and may participate in protein-protein interactions. Functional studies remain limited, but expression data and mutation profiles suggest a possible role in cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCSER1 Knockout HEK293 Cell Line | EDJ-KQ11623 | Human | 401145 | Details Get a Quote |
| CCSER1 Knockout HCT 116 Cell Line | EDJ-KQ39971 | Human | 401145 | Details Get a Quote |
| CCSER1 Knockout HeLa Cell Line | EDJ-KQ39972 | Human | 401145 | Details Get a Quote |
| CCSER1 Knockout A-549 Cell Line | EDJ-KQ68754 | Human | 401145 | Details Get a Quote |
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