CCHCR1 Gene (Coiled-Coil Alpha-Helical Rod Protein 1)
A gene associated with psoriasis susceptibility and potential roles in keratinocyte differentiation and cell cycle regulation.
Gene Information Card
| Symbol | CCHCR1 |
|---|---|
| Full Name | Coiled-Coil Alpha-Helical Rod Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 (GRCh38: 6:31,140,000-31,155,000) |
| NCBI Gene ID | 54535 ncbi.nlm.nih.gov/gene/54535 |
| Ensembl ID | ENSG00000204536 |
| UniProt ID | Q8TD31 |
| OMIM ID | 613310 |
| HGNC ID | 14524 |
| Aliases | HCR, PG8, SBP (psoriasis susceptibility-related RNA gene) |
Description
CCHCR1 encodes a coiled-coil alpha-helical rod protein 1, also known as HCR (alpha-helix coiled-coil rod homologue). The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6p21.33. It is expressed in various tissues, including skin, and is implicated in keratinocyte differentiation and cell cycle regulation. Genetic variants in CCHCR1 have been associated with psoriasis susceptibility, particularly the risk allele in the HLA-Cw6 region. The protein may interact with other coiled-coil proteins and influence transcriptional regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis (susceptibility) | Risk variants in CCHCR1 (e.g., rs2075799) are linked to altered keratinocyte proliferation and differentiation, possibly through interaction with HLA-Cw6. | OMIM 613310; NCBI Gene; multiple GWAS studies |
| Psoriatic arthritis | Shared genetic susceptibility with psoriasis; CCHCR1 variants may contribute to inflammatory arthritis. | OMIM 613310; ClinVar |
| Cutaneous squamous cell carcinoma (potential) | Altered expression of CCHCR1 may affect cell cycle control in keratinocytes, but evidence is limited. | COSMIC; limited studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Esophagus | 12.8 | Medium |
| Cervix | 10.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Testis | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 18.5 | High expression; relevant to psoriasis studies |
| A431 (epidermoid carcinoma) | 14.2 | Moderate expression |
| HEK293 (embryonic kidney) | 7.8 | Low expression |
| HeLa (cervical cancer) | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2075799 (G>A) | SNP | ~30% in European populations | Associated with increased psoriasis risk; located in 3' UTR, may affect mRNA stability |
| rs10484554 (T>C) | SNP | ~25% in European populations | Linked to HLA-Cw6; risk allele for psoriasis |
| c.124C>T (p.Arg42Cys) | Missense | Rare (<0.1%) | Unknown functional effect; reported in COSMIC for skin cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • coiled-coil protein complex | • protein binding |
| • keratinocyte differentiation | • cell cycle regulation |
| • nucleus |
Pathways
• Psoriasis (KEGG hsa05340)
• MHC class I antigen processing (Reactome R-HSA-983170)
Protein Summary
The CCHCR1 protein is a 782-amino acid coiled-coil alpha-helical rod protein. It localizes to the nucleus and may function as a transcriptional regulator or structural component in keratinocytes. Its exact biochemical role remains under investigation, but it is thought to influence cell proliferation and differentiation in the epidermis. The protein interacts with other coiled-coil proteins and may modulate signaling pathways relevant to psoriasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCHCR1 Knockout HEK293 Cell Line | EDJ-KQ12814 | Human | 54535 | Details Get a Quote |
| CCHCR1 Knockout A-549 Cell Line | EDJ-KQ41947 | Human | 54535 | Details Get a Quote |
| CCHCR1 Knockout HCT 116 Cell Line | EDJ-KQ41948 | Human | 54535 | Details Get a Quote |
| CCHCR1 Knockout HeLa Cell Line | EDJ-KQ40700 | Human | 54535 | Details Get a Quote |
| CCHCR1 Knockout KYSE-30 Cell Line | EDJ-KZ135 | Human | 54535 | Details Get a Quote |
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