COMMD1 Human
Description
Product Specs
MGSSHHHHHH SSGLVPRGSH MAAGELEGGK PLSGLLNALA QDTFHGYPGI TEELLRSQLY PEVPPEEFRP FLAKMRGILK SIASADMDFN QLEAFLTAQT KKQGGITSDQ AAVISKFWKS HKTKIRESLM NQSRWNSGLR GLSWRVDGKS QSRHSAQIHT PVAIIELELG KYGQESEFLC LEFDEVKVNQ ILKTLSEVEE SISTLISQPN.
Product Science Overview
Copper Metabolism Domain Containing 1 (COMMD1) is a protein encoded by the COMMD1 gene in humans. This protein plays a crucial role in various physiological processes, particularly in the regulation of copper metabolism. The recombinant form of COMMD1 is produced using recombinant DNA technology, which allows for the expression of the human COMMD1 protein in a host organism, such as bacteria or yeast.
The COMMD1 gene is located on chromosome 2 and is also known by several aliases, including MURR1 and C2orf5 . The protein encoded by this gene contains a conserved COMM domain, which is essential for its function. The COMM domain is involved in protein-protein interactions and is critical for the regulation of various cellular processes .
COMMD1 is a multifunctional protein that is involved in several key cellular processes:
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Copper Homeostasis: COMMD1 plays a significant role in maintaining copper homeostasis within cells. It is involved in the regulation of copper transport and storage, ensuring that copper levels remain within a physiologically optimal range .
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Ubiquitination and Protein Degradation: COMMD1 is a component of the Cullin-RING ubiquitin ligase (CRL) complexes. It promotes the ubiquitination and subsequent proteasomal degradation of specific target proteins, including the NF-kappa-B subunit RELA . This regulation is crucial for controlling the activity of NF-kappa-B, a transcription factor involved in inflammatory and immune responses .
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Membrane Protein Regulation: COMMD1 is involved in the regulation of membrane protein expression and ubiquitination. For example, it regulates the membrane expression of the sodium-potassium-chloride cotransporter SLC12A2 .
Mutations or dysregulation of the COMMD1 gene have been associated with several diseases:
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Wilson Disease: Wilson disease is a genetic disorder characterized by excessive accumulation of copper in the liver, brain, and other vital organs. COMMD1 is implicated in the pathophysiology of this disease due to its role in copper metabolism .
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Ichthyosis, Congenital, Autosomal Recessive 13: This is a rare genetic skin disorder characterized by dry, scaly skin. Mutations in the COMMD1 gene have been linked to this condition .
Research on COMMD1 has provided insights into its potential therapeutic applications:
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Cancer Therapy: The role of COMMD1 in regulating NF-kappa-B activity has implications for cancer therapy. NF-kappa-B is known to promote cell survival and proliferation, and its dysregulation is associated with various cancers. Targeting COMMD1 to modulate NF-kappa-B activity could be a potential therapeutic strategy .
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Copper-Related Disorders: Understanding the mechanisms by which COMMD1 regulates copper homeostasis can lead to the development of therapies for copper-related disorders, such as Wilson disease .
