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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.
ANAPC1
anaphase promoting complex subunit 1
Chromosome 2 Β· 2q13
NCBI Gene: 64682Ensembl: ENSG00000153107.14HGNC: HGNC:19988UniProt: Q9H1A4
185PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein K11-linked ubiquitinationprotein K48-linked ubiquitinationanaphase-promoting complexprotein branched polyubiquitinationRothmund-Thomson syndrome type 1Rothmund-Thomson syndromeSplenomegalyAlzheimer disease
✦AI Summary

ANAPC1 encodes a scaffold subunit of the anaphase-promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that mediates ubiquitination and degradation of target proteins during mitosis and G1 phase 1. The APC/C primarily catalyzes formation of Lys-11-linked polyubiquitin chains and branched Lys-11/Lys-48-linked chains on target proteins 12. Beyond cell cycle regulation, ANAPC1 plays roles in osteogenic differentiation through RUNX2 regulation, with decreased expression observed in osteoporotic bone tissue 3. Dysregulation of ANAPC1 is associated with multiple malignancies: elevated expression in colorectal cancer promotes proliferation and migration while suppressing apoptosis 4, and high ANAPC1 expression predicts unfavorable outcomes in T-cell lymphomas 5. ANAPC1 variants are clinically significant in Rothmund-Thomson syndrome type 1 (RTS1), an autosomal-recessive disorder characterized by poikiloderma, juvenile cataracts, and skeletal anomalies 67. Intronic mutations causing ANAPC1 deficiency lead to prolonged interphase and increased cataract incidence 6. Additionally, ANAPC1 variants show genome-wide association with nicotine dependence susceptibility 8, suggesting broader roles in cellular homeostasis beyond cell cycle control.

Sources cited
1
ANAPC1 is a component of APC/C that mediates ubiquitination and degradation of target proteins during mitosis and G1 phase, primarily forming Lys-11-linked polyubiquitin chains
PMID: 18485873
2
APC/C catalyzes assembly of branched Lys-11/Lys-48-linked ubiquitin chains on target proteins
PMID: 29033132
3
ANAPC1 is overexpressed in colorectal cancer and promotes proliferation and migration while reducing apoptosis; low expression correlates with immune checkpoint inhibitor responsiveness
PMID: 40229946
4
ANAPC1 expression is significantly decreased in osteoporotic bone and muscle tissue; ANAPC1 silencing reduces RUNX2 expression and affects osteogenic differentiation
PMID: 37629076
5
High ANAPC1 expression is associated with unfavorable overall survival in T-cell lymphomas and T-ALL
PMID: 35363385
6
Biallelic ANAPC1 mutations cause Rothmund-Thomson syndrome type 1 characterized by poikiloderma, cataracts, and skeletal anomalies; mutations lead to decreased ANAPC1 protein and prolonged interphase
PMID: 31303264
7
ANAPC1 mutations are a genetic basis for Rothmund-Thomson syndrome alongside RECQL4, DNA2, and CRIPT mutations
PMID: 38021400
8
ANAPC1 variants are genome-wide associated with nicotine dependence susceptibility in Caucasian populations
PMID: 22377092
Disease Associationsβ“˜21
Rothmund-Thomson syndrome type 1Open Targets
0.77Strong
Rothmund-Thomson syndromeOpen Targets
0.37Weak
SplenomegalyOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.29Weak
injuryOpen Targets
0.29Weak
otosclerosisOpen Targets
0.25Weak
lymphatic system diseaseOpen Targets
0.23Weak
atopic eczemaOpen Targets
0.12Weak
Rothmund-Thomson syndrome type 2Open Targets
0.12Weak
allergic rhinitisOpen Targets
0.12Weak
Eczematoid dermatitisOpen Targets
0.11Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.09Suggestive
Partial congenital cataractOpen Targets
0.09Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.08Suggestive
Epiretinal membraneOpen Targets
0.08Suggestive
dermatitisOpen Targets
0.08Suggestive
Rothmund-Thomson syndrome 1UniProt
Pathogenic Variants3
NM_022662.4(ANAPC1):c.2705-198C>TPathogenic
Rothmund-Thomson syndrome type 1
β˜†β˜†β˜†β˜†2019
NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs)Pathogenic
Rothmund-Thomson syndrome type 1
β˜†β˜†β˜†β˜†2019β†’ Residue 593
NM_022662.4(ANAPC1):c.4373+1G>APathogenic
Rothmund-Thomson syndrome type 1
β˜†β˜†β˜†β˜†2019
View on ClinVar β†—
Related Genes
PPP2CAProtein interaction100%UBE2E1Protein interaction100%FAM89BProtein interaction100%TRIM33Protein interaction100%BMI1Protein interaction100%CBX2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
97%
Liver
77%
Lung
75%
Bone Marrow
54%
Heart
48%
Gene Interaction Network
Click a node to explore
ANAPC1PPP2CAUBE2E1FAM89BTRIM33BMI1CBX2
PROTEIN STRUCTURE
Preparing viewer…
PDB5LGG Β· 2.15 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.20 [0.14–0.27]
RankingsWhere ANAPC1 stands among ~20K protein-coding genes
  • #2,321of 20,598
    Most Researched185 Β· top quartile
  • #3,942of 5,498
    Most Pathogenic Variants3
  • #933of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedANAPC1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
PMID: 20301415
1.00
2
The Potential Biological Roles and Clinical Significance of Anaphase-Promoting Complex Subunit 1 in Colorectal Cancer.
PMID: 40229946
Cancer Control Β· 2025
0.90
3
ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.
PMID: 22377092
Drug Alcohol Depend Β· 2012
0.80
4
Anticancer effects of disulfiram in T-cell malignancies through NPL4-mediated ubiquitin-proteasome pathway.
PMID: 35363385
J Leukoc Biol Β· 2022
0.70
5
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.
PMID: 40031098
Cancer Genet Β· 2025
0.60