C1D: A Key Regulator of DNA Repair and Transcriptional Repression
Comprehensive genomic and proteomic analysis of the C1D gene, its role in nuclear receptor signaling, DNA damage response, and associated diseases.
Gene Information Card
| Symbol | C1D |
|---|---|
| Full Name | C1D nuclear receptor corepressor |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 10438 ncbi.nlm.nih.gov/gene/10438 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q13901 |
| OMIM ID | 603057 |
| HGNC ID | 1423 |
| Aliases | C1D, hC1D, LRP1, MGC138290, MGC138291 |
Description
The C1D gene encodes a nuclear protein that functions as a corepressor for nuclear receptors, including the thyroid hormone receptor and retinoic acid receptor. It also plays a role in DNA double-strand break repair by interacting with the DNA-dependent protein kinase (DNA-PK) complex. C1D is involved in transcriptional regulation, apoptosis, and maintenance of genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Mutations in C1D may impair DNA repair, leading to genomic instability and tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Ataxia telangiectasia-like disorder (speculative) | C1D interacts with DNA-PK; defects could mimic DNA repair disorders. | Inferred from functional studies; no direct OMIM entry. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain (cortex) | 8.7 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in embryonic kidney cells |
| HeLa | 11.8 | Moderate expression in cervical cancer cells |
| K562 | 9.4 | Moderate expression in leukemia cells |
| A549 | 7.2 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.424G>A (p.Glu142Lys) | Missense | 0.01% (gnomAD) | Predicted benign |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein expression.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Non-homologous end joining (NHEJ) - DNA repair
• Nuclear receptor signaling (thyroid hormone
• retinoic acid)
Protein Summary
The C1D protein (UniProt Q13901) is a 141-amino acid nuclear protein that contains a conserved C1D domain. It interacts with DNA-PK catalytic subunit and Ku70/80 to facilitate DNA double-strand break repair. Additionally, it acts as a corepressor for nuclear receptors by recruiting histone deacetylases. The protein is ubiquitously expressed with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C1D Knockout HEK293 Cell Line | EDJ-KQ50970 | Human | 10438 | Details Get a Quote |
| C1D Knockout HeLa Cell Line | EDJ-KQ55408 | Human | 10438 | Details Get a Quote |
| C1D Knockout A-549 Cell Line | EDJ-KQ63889 | Human | 10438 | Details Get a Quote |
| C1D Knockout HCT 116 Cell Line | EDJ-KQ72346 | Human | 10438 | Details Get a Quote |
