COMMD1: Copper Metabolism Gene and NF-κB Regulator
COMMD1 (Copper Metabolism Domain Containing 1) is a key regulator of copper homeostasis, NF-κB signaling, and protein degradation, implicated in Wilson disease and various cancers.
Gene Information Card
| Symbol | COMMD1 |
|---|---|
| Full Name | Copper Metabolism Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 150684 ncbi.nlm.nih.gov/gene/150684 |
| Ensembl ID | ENSG00000163131 |
| UniProt ID | Q8N668 |
| OMIM ID | 607238 |
| HGNC ID | 24019 |
| Aliases | C2orf5, MURR1, FLJ20038 |
Description
COMMD1 encodes a protein involved in copper homeostasis, NF-κB signaling, and protein degradation. It functions as part of the COMMD protein family and the CCC complex, regulating endosomal trafficking and ubiquitination. Mutations in COMMD1 cause copper toxicosis in dogs and are linked to Wilson disease in humans. The protein also modulates inflammatory responses and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wilson disease | COMMD1 mutations impair copper excretion, leading to hepatic copper accumulation. | OMIM #607238; NCBI Gene |
| Hepatocellular carcinoma | COMMD1 downregulation promotes NF-κB activation and tumor growth. | PMID: 23431126; NCBI Gene |
| Copper toxicosis (canine) | Loss-of-function mutations in COMMD1 cause hepatic copper accumulation in Bedlington terriers. | OMIA; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| HeLa | 6.8 | Cervical cancer cells |
| A549 | 5.9 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.131T>C (p.Leu44Pro) | Missense | Rare | Impaired copper excretion; associated with Wilson disease |
| c.202C>T (p.Arg68Trp) | Missense | Rare | Reduced protein stability; linked to copper toxicosis |
| c.415G>A (p.Gly139Arg) | Missense | Rare | Altered NF-κB regulation |
Mutation functional classification
Loss of Function (LOF)
Mutations impair copper excretion and NF-κB inhibition, leading to copper accumulation and inflammation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Copper homeostasis (Reactome: R-HSA-936837)
• NF-κB signaling (Reactome: R-HSA-975138)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
COMMD1 is a 190-amino acid protein (21 kDa) containing a COMM domain that mediates interactions with copper chaperones and the CCC complex. It facilitates copper excretion by promoting ATP7B trafficking and regulates NF-κB by enhancing ubiquitination of NF-κB subunits. The protein is widely expressed, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COMMD10 Knockout HEK293 Cell Line | EDJ-KQ11080 | Human | 51397 | Details Get a Quote |
| COMMD1 Knockout HEK293 Cell Line | EDJ-KQ11308 | Human | 150684 | Details Get a Quote |
| COMMD10 Knockout A-549 Cell Line | EDJ-KQ39013 | Human | 51397 | Details Get a Quote |
| COMMD10 Knockout HCT 116 Cell Line | EDJ-KQ39014 | Human | 51397 | Details Get a Quote |
| COMMD10 Knockout HeLa Cell Line | EDJ-KQ39015 | Human | 51397 | Details Get a Quote |
| COMMD1 Knockout A-549 Cell Line | EDJ-KQ39437 | Human | 150684 | Details Get a Quote |
| COMMD1 Knockout HCT 116 Cell Line | EDJ-KQ39438 | Human | 150684 | Details Get a Quote |
| COMMD1 Knockout HeLa Cell Line | EDJ-KQ39439 | Human | 150684 | Details Get a Quote |
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