COMMD1

COMMD1 (Copper Metabolism Domain Containing 1) is a Protein Coding gene. Diseases associated with COMMD1 include Wilson Disease and Menkes Disease. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Regulation of CFTR activity (norm and CF). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and copper ion binding.

Copper Metabolism Domain Containing 1

Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2 (PubMed:21778237).

Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity (PubMed:15799966, PubMed:17183367, PubMed:20048074).

Involved in the regulation of membrane expression and ubiquitination of SLC12A2 (PubMed:23515529).

Modulates Na+ transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits and by promoting their ubiquitination presumably involving NEDD4L. Promotes the localization of SCNN1D to recycling endosomes (PubMed:14645214, PubMed:20237237, PubMed:21741370).

Promotes CFTR cell surface expression through regulation of its ubiquitination (PubMed:21483833).

Down-regulates SOD1 activity by interfering with its homodimerization (PubMed:20595380).

Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947).

Can bind one copper ion per monomer (PubMed:17309234).

May function to facilitate biliary copper excretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794).

Involved in the regulation of HIF1A-mediated transcription; competes with ARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNA binding and impaired transcriptional activation by HIF-1 (PubMed:20458141).

Negatively regulates neuroblastoma G1/S phase cell cycle progression and cell proliferation by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a FAM107A- and actin-dependent manner (PubMed:28604741).

Copper ion homeostasis Source: UniProtKB
Golgi to plasma membrane transport Source: UniProtKB
Negative regulation of NF-kappaB transcription factor activity Source: UniProtKB
Negative regulation of protein localization to cell surface Source: UniProtKB
Negative regulation of sodium ion transmembrane transport Source: UniProtKB
Nucleotide-excision repair Source: CACAO
Plasma membrane to endosome transport Source: UniProtKB
Positive regulation of protein ubiquitination Source: UniProtKB
Post-translational protein modification Source: Reactome
Protein transport Source: UniProtKB-KW
Protein ubiquitination Source: Reactome
Regulation of proteasomal ubiquitin-dependent protein catabolic process Source: UniProtKB

Endosome membrane; Early endosome; Recycling endosome; Nucleus; Cytoplasm; Cytoplasmic vesicle. Shuttles between nucleus and cytosol. Detected in perinuclear foci that may be aggresomes containing misfolded, ubiquitinated proteins.

Acetylated by EP300 ina stimuli-specific manner; protecting it from XIAP-mediated proteasomal degradation and required for interaction with RElA in response to stress.
Ubiquitinated; undergoes both 'Lys-63'- and 'Lys-48'-linked polyubiquitination. Ubiquitinated by XIAP, leading to its proteasomal degradation.