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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RCCD1
RCC1 domain containing 1
Chromosome 15 · 15q26.1
NCBI Gene: 91433Ensembl: ENSG00000166965.15HGNC: HGNC:30457UniProt: A6NED2
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolplasma membranechromosometype 2 diabetes mellitusprostate carcinomabreast carcinomadiabetes mellitus
✦AI Summary

RCCD1 (RCC1 domain containing 1) is a multi-functional protein with roles in nuclear and mitochondrial processes. In the nucleus, RCCD1 regulates transcriptional repression of satellite repeats through H3K36 methylation modulation with KDM8, and participates in mitotic spindle organization and chromosome 15 1. RCCD1 modulates cytoskeletal microtubule stability by regulating alpha-tubulin acetylation, promoting cell migration and TGF-β-induced epithelial-to-mesenchymal transition (EMT) 2. Notably, RCCD1 localizes to the mitochondrial matrix where it interacts with MICOS and mitochondrial DNA to regulate oxidative phosphorylation and reactive oxygen species production, with upregulation under hypoxic conditions favoring cancer cell survival 3. RCCD1 expression is transcriptionally regulated by E2F1 in colorectal cancer 4. Clinically, RCCD1 is dysregulated across multiple cancers: overexpression associates with poor prognosis in lung cancer 2, breast cancer 3, and colorectal cancer 4. Genetic variants regulating RCCD1 methylation show protective effects against pancreatic cancer 5, while genetically predicted RCCD1 expression associates with pancreatic cancer risk 6. RCCD1 is also identified as a biomarker in thin endometrium associated with abnormal immune infiltration 7, and altered in schizophrenia-related placental pathology 8.

Sources cited
1
RCCD1 regulates transcriptional repression of satellite repeats through H3K36 methylation with KDM8, and participates in mitotic spindle organization and chromosome segregation
PMID: 24981860
2
RCCD1 regulates alpha-tubulin acetylation and microtubule stability, promoting cell migration and TGF-β-induced EMT in lung cancer
PMID: 28455245
3
RCCD1 localizes to mitochondrial matrix, interacts with MICOS and mtDNA to regulate oxidative phosphorylation and ROS production; upregulated in hypoxia; overexpressed in breast cancer with association to poor survival
PMID: 37903896
4
E2F1 transcriptionally regulates RCCD1 expression in colorectal cancer to modulate EMT and cell migration
PMID: 39024731
5
Genetic variant rs12905855 decreases RCCD1-AS1 methylation, increasing RCCD1 expression and showing protective effect against pancreatic cancer
PMID: 37130759
6
Genetically predicted RCCD1 expression in pancreas tissue associates with increased pancreatic cancer risk
PMID: 32907841
7
RCCD1 is identified as a biomarker overexpressed in thin endometrium associated with abnormal immune regulation
PMID: 40457017
8
RCCD1 expression is altered in placenta and brain following prenatal THC exposure, associated with schizophrenia-like phenotypes
PMID: 40827685
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.46Moderate
prostate carcinomaOpen Targets
0.36Weak
breast carcinomaOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.28Weak
ovarian cancerOpen Targets
0.28Weak
lung cancerOpen Targets
0.27Weak
cervical carcinomaOpen Targets
0.27Weak
esophageal cancerOpen Targets
0.27Weak
gastric cancerOpen Targets
0.27Weak
non-Hodgkins lymphomaOpen Targets
0.27Weak
migraine disorderOpen Targets
0.27Weak
cancerOpen Targets
0.26Weak
colorectal cancerOpen Targets
0.25Weak
hepatocellular carcinomaOpen Targets
0.25Weak
biliary tract cancerOpen Targets
0.25Weak
endometrial cancerOpen Targets
0.25Weak
pancreatic carcinomaOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.24Weak
breast cancerOpen Targets
0.23Weak
ovarian carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KDM8Protein interaction91%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
92%
Liver
86%
Heart
57%
Brain
46%
Lung
30%
Gene Interaction Network
Click a node to explore
RCCD1KDM8
PROTEIN STRUCTURE
Preparing viewer…
PDB6F4T · 1.22 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.33 [1.06–1.69]
RankingsWhere RCCD1 stands among ~20K protein-coding genes
  • #13,990of 20,598
    Most Researched21
  • #16,071of 17,882
    Most Constrained (LOEUF)1.69
Genes detectedRCCD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and Validation of RPL7 and RCCD1 as Potential Biomarkers Associated with Immune Infiltration in Patients with Thin Endometrium.
PMID: 40457017
Reprod Sci · 2025
1.00
2
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma.
PMID: 37130759
J Med Genet · 2023
0.90
3
RCCD1 depletion attenuates TGF-β-induced EMT and cell migration by stabilizing cytoskeletal microtubules in NSCLC cells.
PMID: 28455245
Cancer Lett · 2017
0.80
4
RCCD1 promotes breast carcinogenesis through regulating hypoxia-associated mitochondrial homeostasis.
PMID: 37903896
Oncogene · 2023
0.70
5
E2F1 modulates RCCD1 expression to participate in the initiation and progression of EMT in colorectal cancer.
PMID: 39024731
Pathol Res Pract · 2024
0.60