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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CXXC1
CXXC finger protein 1
Chromosome 18 · 18q21.1
NCBI Gene: 30827Ensembl: ENSG00000154832.17HGNC: HGNC:24343UniProt: Q9P0U4
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmprotein bindingnuclear speckneurodegenerative diseasemultiple sclerosislysosomal storage diseaseAlzheimer disease
✦AI Summary

CXXC1 (CXXC finger protein 1) is a transcriptional regulator and histone methyltransferase complex component that binds unmethylated CpG dinucleotides with preference for CpGG motifs 1. As a key subunit of SETD1A/SETD1B complexes, CXXC1 directs H3K4 trimethylation (H3K4me3) to unmethylated CpG islands, linking epigenetic chr18 states to transcriptional activation 1. Mechanistically, CXXC1 orchestrates H3K4me3 deposition at promoters and gene regulatory regions, directly impacting transcriptional output. The protein reads and writes histone methylation signatures that regulate both developmental and homeostatic processes. Notably, CXXC1 is not required for meiotic recombination despite PRDM9 interactions 2, indicating context-dependent functionality. Clinically, CXXC1 dysfunction associates with multiple disease pathways. Oocyte-specific CXXC1 loss causes accelerated reproductive aging through impaired H3K4me3 maintenance and defective maternal mRNA degradation 3. In cardiogenesis, cardiomyocyte-specific Cfp1 knockout is embryonic lethal and prevents maturation through altered H3K4me3 patterning of structural and contractile genes 4. CXXC1 is also essential for epidermal homeostasis, with genetic variation affecting polygenic skin disease risk through dysregulation of differentiation programs 5. Transcriptomic studies implicate CXXC1 as a conserved aging modulator with potential longevity associations 6.

Sources cited
1
CXXC1 maintains H3K4me3 in oocytes; loss causes accelerated aging and impaired mRNA degradation/translation
PMID: 35680896
2
CXXC1 is essential for epidermal homeostasis and regulates genes controlling epidermal differentiation
PMID: 40998781
3
CXXC1 associates with SETD1A/SETD1B and targets these methyltransferases to unmethylated CpG islands
PMID: 26352678
4
CXXC1 is not essential for meiotic recombination despite PRDM9 interaction
PMID: 30365547
5
CXXC1 is a conserved aging modulator with potential links to human longevity
PMID: 32997995
6
Cardiomyocyte-specific CXXC1 knockout is embryonic lethal; CXXC1 regulates H3K4me3 at genes controlling cardiomyocyte maturation
PMID: 38196272
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
multiple sclerosisOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
deficiency anemiaOpen Targets
0.28Weak
Abnormal pupillary functionOpen Targets
0.24Weak
peripheral vascular diseaseOpen Targets
0.23Weak
cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
endometriosisOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.04Suggestive
infectionOpen Targets
0.03Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.02Suggestive
Duchenne muscular dystrophyOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
autoimmune diseaseOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HIRIP3Shared pathway100%HMGN3Shared pathway100%HMGN4Shared pathway100%MSL3Shared pathway100%KLF12Shared pathway100%FAM50BShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
62%
Liver
61%
Lung
50%
Heart
28%
Brain
21%
Gene Interaction Network
Click a node to explore
CXXC1HIRIP3HMGN3HMGN4MSL3KLF12FAM50B
PROTEIN STRUCTURE
Preparing viewer…
PDB3QMD · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.18–0.37]
RankingsWhere CXXC1 stands among ~20K protein-coding genes
  • #5,724of 20,598
    Most Researched83
  • #1,716of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedCXXC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dynamic mRNA degradome analyses indicate a role of histone H3K4 trimethylation in association with meiosis-coupled mRNA decay in oocyte aging.
PMID: 35680896
Nat Commun · 2022
1.00
2
Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermis.
PMID: 40998781
Nat Commun · 2025
0.90
3
Epigenetics: relevance and implications for public health.
PMID: 24641556
Annu Rev Public Health · 2014
0.80
4
Regulation of transcription and chromatin by methyl-CpG binding protein MBD1.
PMID: 11738867
Brain Dev · 2001
0.70
5
CXXC1 is not essential for normal DNA double-strand break formation and meiotic recombination in mouse.
PMID: 30365547
PLoS Genet · 2018
0.60