UniProt ID |
Q9BSA9
|
Protein name |
Endosomal/lysosomal proton channel TMEM175 (Potassium channel TMEM175) (Transmembrane protein 175) (hTMEM175) |
Protein function |
Proton-activated proton channel that catalyzes proton efflux from endosomes and lysosomes to maintain a steady-state pH (PubMed:35333573, PubMed:35750034, PubMed:37390818). Activated at low pH (under pH 4.6) by luminal side protons: selectively |
PDB |
6W8N
,
6W8O
,
6W8P
,
6WC9
,
6WCA
,
6WCB
,
6WCC
,
7LF6
,
7UNL
,
7UNM
,
8DHM
,
8FY5
,
8FYF
,
8VIC
,
8VIE
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF06736
|
DUF1211 |
35 → 124 |
Protein of unknown function (DUF1211) |
Family |
PF06736
|
DUF1211 |
260 → 356 |
Protein of unknown function (DUF1211) |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:26317472}. |
Sequence |
|
Sequence length |
504 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
25064009, 21738487, 21292315, 22438815, 30957308, 28892059 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Parkinson Disease |
Parkinson Disease |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Amyotrophic Lateral Sclerosis |
Associate
|
37328865, 37639066 |
Autonomic Nervous System Diseases |
Associate
|
34994165 |
Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
35729600 |
Lewy Body Disease |
Associate
|
35729600 |
Multiple Sclerosis |
Associate
|
36279431 |
Parkinson Disease |
Associate
|
26601739, 30957308, 31261387, 33436766, 34148545, 34994165, 35750034, 36279431, 36609826, 37328865 |
REM Sleep Behavior Disorder |
Associate
|
32986685 |
Synucleinopathies |
Associate
|
32986685 |
|