TRPM7 Antibody – Rabbit Polyclonal

The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.[provided by RefSeq, May 2010]

Function: Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1). Ref.6 Ref.7

Catalytic activity: ATP + a protein = ADP + a phosphoprotein.

Cofactor: Binds 1 zinc ion per subunit

By similarity.

Subunit structure: Homodimer. Interacts with PLCB1

By similarity. Forms heterodimers with TRPM6. Ref.8

Subcellular location: Membrane; Multi-pass membrane protein

Probable.

Post-translational modification: Autophosphorylated

By similarity.

Involvement in disease: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (ALS-PDC1) [MIM:105500]: A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism-dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Sequence similarities: In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM7 sub-subfamily. [View classification]Contains 1 alpha-type protein kinase domain.

Sequence caution: The sequence BAC11462.1 differs from that shown. Reason: Erroneous initiation. The sequence BAD18773.1 differs from that shown. Reason: Erroneous initiation.