Entity Details

Primary name TM175_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BSA9
EntryNameTM175_HUMAN
FullNameEndosomal/lysosomal potassium channel TMEM175
TaxID9606
Evidenceevidence at protein level
Length504
SequenceStatuscomplete
DateCreated2007-04-03
DateModified2021-06-02

Ontological Relatives

GenesTMEM175

GO terms

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GOName
GO:0005267 potassium channel activity
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0022841 potassium ion leak channel activity
GO:0031303 integral component of endosome membrane
GO:0035751 regulation of lysosomal lumen pH
GO:0070050 neuron cellular homeostasis
GO:0071805 potassium ion transmembrane transport
GO:0090385 phagosome-lysosome fusion
GO:1905103 integral component of lysosomal membrane

Subcellular Location

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Subcellular Location
Endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR010617 Endosomal/lysomomal potassium channel TMEM175FamilyFamily

Diseases

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Disease IDSourceNameDescription
168600 OMIMParkinson disease (PARK)A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. Disease susceptibility may be associated with variants affecting the gene represented in this entry. TMEM175 defects result in unstable lysosomal pH, leading to decreased lysosomal catalytic activity, decreased glucocerebrosidase activity, impaired autophagosome clearance by the lysosome and decreased mitochondrial respiration (PubMed:28193887).

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
TM175_HUMANGPR37_HUMANBioGRID, MINT28298427 details
TM175_HUMANA4_HUMANBioGRID21832049 details