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MGP006578

UniProt Annotations

Entry Information

Gene Name	transient receptor potential cation channel, subfamily M, member 6
Protein Entry	TRPM6_HUMAN
UniProt ID	Q9BX84
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=7; Name=TRPM6a; IsoId=Q9BX84-1; Sequence=Displayed; Name=TRPM6b; IsoId=Q9BX84-2; Sequence=VSP_012069; Name=TRPM6c; IsoId=Q9BX84-3; Sequence=VSP_012070; Name=TRPM6t; IsoId=Q9BX84-4; Sequence=VSP_012075, VSP_012076; Name=M6-kinase 1; IsoId=Q9BX84-5; Sequence=VSP_012074; Note=Lacks the ion channel region.; Name=M6-kinase 2; IsoId=Q9BX84-6; Sequence=VSP_012073; Note=Lacks the ion channel region.; Name=M6-kinase 3; IsoId=Q9BX84-7; Sequence=VSP_012071, VSP_012072; Note=Lacks the ion channel region.;
Catalytic Activity	ATP + a protein = ADP + a phosphoprotein.
Disease	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:0000269\|PubMed:12032568, ECO:0000269\|PubMed:23942199}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Similarity	Contains 1 alpha-type protein kinase domain. {ECO:0000255\|PROSITE-ProRule:PRU00501}.
Similarity	In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. {ECO:0000305}.
Similarity	In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6 sub-subfamily. {ECO:0000305}.
Subcellular Location	Cell membrane {ECO:0000269\|PubMed:23942199}; Multi-pass membrane protein.
Subunit	Forms heterodimers with TRPM7. TRPM6 requires the presence of TRPM7 to be targeted to the cell membrane (in HEK 293 cells). Interacts (via kinase domain) with GNB2L1/RACK1. {ECO:0000269\|PubMed:14976260, ECO:0000269\|PubMed:18258429}.
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.