InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TRPM6

Summary

InnateDB Protein

IDBP-373143.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TRPM6

Protein Name

transient receptor potential cation channel, subfamily M, member 6

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000396672

InnateDB Gene

IDBG-71268 (TRPM6)

Protein Structure

UniProt Annotation

Function

Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Hypomagnesemia 1 (HOMG1) [MIM:602014]: A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. {ECO:0000269PubMed:12032568}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in kidney and colon. Isoform TRPM6a and isoform TRPM6b, are coexpressed with TRPM7 in kidney, and testis, and are also found in several cell lines of lung origin. Isoform TRPM6c is detected only in testis and in NCI-H510A small cell lung carcinoma cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004674	protein serine/threonine kinase activity
GO:0005216	ion channel activity
GO:0005262	calcium channel activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0046872	metal ion binding

Biological Process

GO:0006468	protein phosphorylation
GO:0006811	ion transport
GO:0009636	response to toxic substance
GO:0034220	ion transmembrane transport
GO:0055085	transmembrane transport
GO:0070588	calcium ion transmembrane transport