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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COMMD1
copper metabolism domain containing 1
Chromosome 2 · 2p15
NCBI Gene: 150684Ensembl: ENSG00000173163.12HGNC: HGNC:23024UniProt: Q8N668
111PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IIcopper ion bindingprotein bindingphosphatidylinositol-4,5-bisphosphate bindingneurodegenerative diseaseParkinson diseaseinfectious diseaseautoimmune disease
✦AI Summary

COMMD1 is a multifunctional scaffold protein essential for endosomal recycling of transmembrane cargo as a core component of the Commander complex 1. The Commander complex comprises the CCC subcomplex (containing COMMD1-COMMD10 and CCDC proteins) and the Retriever subcomplex, functioning in coordinated cargo trafficking 1. COMMD1 regulates copper homeostasis by facilitating ATP7A trafficking between the trans-Golgi network and peripheral vesicles, with mutations in COMMD1 associated with hepatic copper accumulation in Bedlington terriers 2. The protein modulates cullin-RING E3 ubiquitin ligase complexes by displacing CAND1, promoting ubiquitination of key substrates including NF-κB subunit RELA, leading to its proteasomal degradation and suppression of inflammatory signaling 3. COMMD1 regulates sodium channel trafficking and epithelial ion transport through ubiquitination-dependent mechanisms affecting ENaC and CFTR expression 4. Additionally, COMMD1 inhibits HIF-1α-mediated transcription by preventing its dimerization with HIF-1β, suppressing tumor invasion and metastasis 5. Recent studies reveal COMMD1's role in copper-dependent cell death (cuproptosis), with triptolide inducing cervical cancer cell death through the XIAP/COMMD1/ATP7A/B axis 6. A COMMD1 polymorphism (rs11125908) associates with rheumatoid arthritis susceptibility 7.

Sources cited
1
COMMD1 is a core scaffold protein in the Commander complex (CCC and Retriever subassemblies) required for endosomal recycling of transmembrane cargos
PMID: 37172566
2
COMMD1 mutations are associated with hepatic copper accumulation in Bedlington terriers, demonstrating its role in copper metabolism
PMID: 28063745
3
COMMD1 negatively regulates NF-κB signaling and osteoclastogenesis; hypoxia suppresses COMMD1 expression, augmenting inflammatory responses
PMID: 28723554
4
COMMD1 is a pleiotropic regulator involved in copper and cholesterol homeostasis, ionic transport, NF-κB signaling, hypoxia-induced transcription, and oncogenesis
PMID: 28543362
5
COMMD1 suppresses tumor invasion by inhibiting HIF-1α/HIF-1β dimerization and subsequent HIF-mediated transcription
PMID: 20458141
6
Triptolide induces cuproptosis in cervical cancer cells through the XIAP/COMMD1/ATP7A/B axis by disrupting copper homeostasis
PMID: 39198750
7
The COMMD1 rs11125908 polymorphism associates with rheumatoid arthritis susceptibility and severity in Cuban population
PMID: 38916163
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
Parkinson diseaseOpen Targets
0.36Weak
infectious diseaseOpen Targets
0.28Weak
autoimmune diseaseOpen Targets
0.27Weak
metabolic diseaseOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.23Weak
placenta praeviaOpen Targets
0.23Weak
ulcerative colitisOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.21Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
squamous cell carcinomaOpen Targets
0.06Suggestive
psoriasisOpen Targets
0.06Suggestive
diffuse large B-cell lymphomaOpen Targets
0.06Suggestive
AIDS dementiaOpen Targets
0.04Suggestive
Wilson diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CUL1Protein interaction100%XIAPProtein interaction99%COMMD3Protein interaction99%COMMD5Protein interaction99%COMMD2Protein interaction99%COMMD10Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Liver
47%
Brain
42%
Lung
36%
Bone Marrow
35%
Ovary
33%
Gene Interaction Network
Click a node to explore
COMMD1CUL1XIAPCOMMD3COMMD5COMMD2COMMD10
PROTEIN STRUCTURE
Preparing viewer…
PDB8P0W · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.64 [0.39–1.12]
RankingsWhere COMMD1 stands among ~20K protein-coding genes
  • #4,265of 20,598
    Most Researched111 · top quartile
  • #11,465of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedCOMMD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome.
PMID: 37172566
Cell · 2023
1.00
2
Triptolide-induced cuproptosis is a novel antitumor strategy for the treatment of cervical cancer.
PMID: 39198750
Cell Mol Biol Lett · 2024
0.90
3
Canine Copper-Associated Hepatitis.
PMID: 28063745
Vet Clin North Am Small Anim Pract · 2017
0.80
4
COMMD1: A Multifunctional Regulatory Protein.
PMID: 28543362
J Cell Biochem · 2018
0.70
5
Association between
PMID: 38916163
Reumatismo · 2024
0.60