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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C1D
C1D nuclear receptor corepressor
Chromosome 2 · 2p14
NCBI Gene: 10438Ensembl: ENSG00000197223.13HGNC: HGNC:29911UniProt: Q13901
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
maturation of 5.8S rRNAnucleoplasmRNA bindingprotein bindingneurodegenerative diseasehypertrophic cardiomyopathypreeclampsiarestless legs syndrome
✦AI Summary

C1D is a nuclear protein with critical roles in ribosomal RNA processing and transcriptional regulation. As a primary function, C1D recruits the RNA exosome complex to pre-rRNA substrates to mediate 3'-5' end processing of 5.8S rRNA 1. The protein contains a Sas10/C1D domain that forms a binding surface for protein-protein interactions while simultaneously engaging RNA or DNA substrates 2. Mechanistically, C1D associates with exosome subunit PM/Scl-100 in nucleoli and co-localizes with other exosome-associated proteins 1. C1D also functions as a transcriptional co-repressor/activator, regulating gene expression patterns that protect cells from oxidative stress 3. While C1D is not directly involved in nucleotide excision repair of UV-damaged DNA, it influences cell survival following UV irradiation through modulation of genes like DDIT3 and APEX1 3. Disease relevance includes genetic associations with antiphospholipid syndrome, where C1D variants reached genome-wide significance in genetic studies 4. Additionally, defects in C1D-related ciliary components cause primary ciliary dyskinesia with impaired mucociliary clearance 5. The protein's involvement in MAPK signaling regulation through protein degradation mechanisms suggests additional roles in cellular proliferation control 6. These multifaceted functions establish C1D as essential for maintaining genome stability, proper ribosome biogenesis, and cellular homeostasis.

Sources cited
1
C1D recruits the RNA exosome complex to pre-rRNA to mediate 3'-5' end processing of 5.8S rRNA and forms a trimeric complex with PM/Scl-100 and MPP6
PMID: 17412707
2
The Sas10/C1D domain forms a binding surface for protein interactions and can interact with RNA or DNA substrates
PMID: 20659009
3
C1D functions as a transcriptional co-repressor/activator and protects cells from oxidative stress by regulating genes like DDIT3 and APEX1, though it is not directly involved in nucleotide excision repair
PMID: 30165670
4
C1D variants reached genome-wide significance threshold (P < 5 × 10-8) in genetic association studies with antiphospholipid syndrome
PMID: 31807905
5
Pathogenic variants in C1D-related genes (CFAP46, CFAP54, CFAP221, CFAP74) cause primary ciliary dyskinesia with defective C1d projection and impaired ciliary clearance
PMID: 39362668
6
The C1D domain of Raf-1 is involved in TRIM22-mediated K48-linked ubiquitination and protein degradation affecting MAPK signaling
PMID: 37258577
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
hypertrophic cardiomyopathyOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.25Weak
restless legs syndromeOpen Targets
0.21Weak
androgenetic alopeciaOpen Targets
0.18Weak
movement disorderOpen Targets
0.17Weak
insomniaOpen Targets
0.16Weak
drug allergyOpen Targets
0.13Weak
epilepsyOpen Targets
0.13Weak
hypopituitarismOpen Targets
0.13Weak
narcolepsyOpen Targets
0.13Weak
ovarian dysfunctionOpen Targets
0.13Weak
schizophreniaOpen Targets
0.12Weak
Abnormality of the integumentOpen Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
cervical carcinomaOpen Targets
0.11Weak
Sleep DisorderOpen Targets
0.11Weak
HypercholesterolemiaOpen Targets
0.09Suggestive
ovarian neoplasmOpen Targets
0.09Suggestive
alopeciaOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXOSC9Protein interaction100%EXOSC10Protein interaction100%RBM7Protein interaction100%MTREXProtein interaction100%ZCCHC7Protein interaction100%DIS3L2Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
83%
Liver
76%
Lung
52%
Heart
50%
Ovary
48%
Gene Interaction Network
Click a node to explore
C1DEXOSC9EXOSC10RBM7MTREXZCCHC7DIS3L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13901
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.65Intermediate
Observed/Expected LoF0.26 [0.11–0.83]
RankingsWhere C1D stands among ~20K protein-coding genes
  • #9,420of 20,598
    Most Researched45
  • #7,028of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedC1D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Preventing Infusion-Related Reactions With Intravenous Amivantamab-Results From SKIPPirr, a Phase 2 Study: A Brief Report.
PMID: 39864547
J Thorac Oncol · 2025
1.00
2
Pathogenic variants in
PMID: 39362668
Eur Respir J · 2024
0.90
3
C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing.
PMID: 17412707
Nucleic Acids Res · 2007
0.80
4
Genetics of Antiphospholipid Syndrome.
PMID: 31807905
Curr Rheumatol Rep · 2019
0.70
5
C1D is not directly involved in the repair of UV-damaged DNA but protects cells from oxidative stress by regulating gene expressions in human cell lines.
PMID: 30165670
J Biochem · 2018
0.60