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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RCC1
regulator of chromosome condensation 1
Chromosome 1 Β· 1p35.3
NCBI Gene: 1104Ensembl: ENSG00000180198.18HGNC: HGNC:1913UniProt: A0A0S2Z3I4
195PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromatin bindingguanyl-nucleotide exchange factor activityprotein bindingsmall GTPase bindingMyasthenia gravisneurodegenerative diseaseinjuryneoplasm
✦AI Summary

RCC1 (regulator of chromosome 1 1) functions as a guanine-nucleotide exchange factor that promotes the conversion of Ran-bound GDP to GTP, playing critical roles in nuclear transport and mitotic processes 1. The protein generates high levels of chr1-associated, GTP-bound RAN essential for mitotic spindle assembly and proper chromosome 1 1. RCC1 activity is regulated by post-translational modifications, including PRMT6-mediated arginine methylation, which is required for its chr1 association and RAN activation 1. In cancer contexts, RCC1 drives pancreatic ductal adenocarcinoma growth by regulating subcellular protein localization through the Ran GTPase gradient, affecting nucleocytoplasmic transport and cellular metabolism 2. RCC1 silencing reduces cancer cell proliferation, migration, and clonogenicity while enhancing apoptosis and altering cell cycle progression 2. The protein's expression correlates with poor prognosis in pancreatic cancer, and its knockdown sensitizes cells to chemotherapy 2. Additionally, RCC1-like domains are found in bacterial effector proteins and other cellular regulators, highlighting the evolutionary conservation of this regulatory mechanism 3. Therapeutically, targeting the PRMT6-RCC1 pathway shows promise in glioblastoma treatment, as PRMT6 inhibition disrupts RCC1 function and enhances radiation sensitivity 1.

Sources cited
1
RCC1 functions as guanine-nucleotide exchange factor and is regulated by PRMT6 methylation for chromatin association
PMID: 33539787
2
RCC1 drives pancreatic cancer growth through Ran GTPase regulation and correlates with poor prognosis
PMID: 39321913
3
RCC1-like domains are evolutionarily conserved and found in bacterial effector proteins
PMID: 32720355
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Myasthenia gravisOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.34Weak
injuryOpen Targets
0.25Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
telomere syndromeOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
adrenal cortex carcinomaOpen Targets
0.03Suggestive
triple-negative breast cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.02Suggestive
Infection-induced acute-onset axonal neuropathyUniProt
Pathogenic Variants5
NM_001381865.2(RCC1):c.330G>C (p.Met110Ile)Pathogenic
See cases|Infection-induced acute-onset axonal neuropathy
β˜†β˜†β˜†β˜†2025β†’ Residue 110
NM_001381865.2(RCC1):c.781G>A (p.Val261Met)Pathogenic
Infection-induced acute-onset axonal neuropathy
β˜†β˜†β˜†β˜†2025β†’ Residue 261
NM_001381865.2(RCC1):c.280A>G (p.Asn94Asp)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2024β†’ Residue 94
NM_001381865.2(RCC1):c.604G>A (p.Gly202Ser)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2024β†’ Residue 202
NM_001381865.2(RCC1):c.127G>A (p.Gly43Ser)Pathogenic
See cases
β˜†β˜†β˜†β˜†2024β†’ Residue 43
View on ClinVar β†—
Related Genes
RANProtein interaction100%H2AC20Protein interaction100%H2AC18Protein interaction100%H2BC21Protein interaction100%KPNA4Protein interaction98%KPNA3Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
75%
Ovary
61%
Brain
61%
Lung
60%
Heart
18%
Gene Interaction Network
Click a node to explore
RCC1RANH2AC20H2AC18H2BC21KPNA4KPNA3
PROTEIN STRUCTURE
Preparing viewer…
PDB6DUB Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.15–0.40]
RankingsWhere RCC1 stands among ~20K protein-coding genes
  • #2,184of 20,598
    Most Researched195 Β· top quartile
  • #3,489of 5,498
    Most Pathogenic Variants5
  • #1,966of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedRCC1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
ISGylation by HERCs facilitates STING activation.
PMID: 38652662
Cell Rep Β· 2024
1.00
2
PRMT6 methylation of RCC1 regulates mitosis, tumorigenicity, and radiation response of glioblastoma stem cells.
PMID: 33539787
Mol Cell Β· 2021
0.90
3
Posttranslational ISGylation of NLRP3 by HERC enzymes facilitates inflammasome activation in models of inflammation.
PMID: 37651190
J Clin Invest Β· 2023
0.80
4
HERC2 promotes inflammation-driven cancer stemness and immune evasion in hepatocellular carcinoma by activating STAT3 pathway.
PMID: 36721234
J Exp Clin Cancer Res Β· 2023
0.70
5
Ubiquitinated histone H2B as gatekeeper of the nucleosome acidic patch.
PMID: 39149911
Nucleic Acids Res Β· 2024
0.64