Entity Details

Primary name TRPM6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BX84
EntryNameTRPM6_HUMAN
FullNameTransient receptor potential cation channel subfamily M member 6
TaxID9606
Evidenceevidence at protein level
Length2022
SequenceStatuscomplete
DateCreated2004-12-07
DateModified2021-06-02

Ontological Relatives

GenesTRPM6

GO terms

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GOName
GO:0005261 cation channel activity
GO:0005262 calcium channel activity
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009636 response to toxic substance
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0046872 metal ion binding
GO:0051262 protein tetramerization
GO:0070588 calcium ion transmembrane transport
GO:0098655 cation transmembrane transport
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR004166 MHCK/EF2 kinaseDomainDomain
IPR005821 Ion transport domainDomainDomain
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR029597 Transient receptor potential cation channel subfamily M member 6FamilyFamily
IPR032415 TRPM, tetramerisation domainDomainDomain
IPR037162 TRPM, tetramerisation domain superfamilyFamilyHomologous superfamily
IPR041491 TRPM, SLOG domainDomainDomain

Diseases

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Disease IDSourceNameDescription
602014 OMIMHypomagnesemia 1 (HOMG1)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB09481 Magnesium carbonateDrugbanksmall molecule
DB14513 MagnesiumSwissprotsmall molecule