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84286 TMEM175

84286

TMEM175

transmembrane protein 175

protein-coding

Homo sapiens

基因描述

Type Description
Definition transmembrane protein 175

研究结论

Date Results Publications
2021-03-27 14:40:00 Gating and selectivity mechanisms for the lysosomal K(+) channel TMEM175. 32228865
2020-05-16 12:31:00 Data suggest that the TMEM175 p.M393T variant is responsible for the main signal in the chromosome 4p16.3 locus therefore conferring risk for Parkinson disease through its phosphorylation of alpha-synuclein. 31261387
2020-05-16 12:13:00 Coding variants in TMEM175 are likely to be responsible for the association in the TMEM175/GAK/DGKQ locus, which could be mediated by affecting glucosylceramidase activity. 31658403
2018-04-14 10:05:00 TMEM175 deficiency impairs lysosomal and mitochondrial function and increases alpha-synuclein aggregation. 28193887
2017-12-30 12:01:00 structure of TMEM175 represents a novel architecture of a tetrameric cation channel whose ion selectivity mechanism appears to be distinct from that of the classical K(+) channel family 28723891

名称对应

Type IDs
Synonymous hTMEM175
Gene
UniProtKB-ID: TM175_HUMAN, F6UWG6_HUMAN
UniprotKB: Q9BSA9, F6UWG6
UniParc: UPI000006D795, UPI0000D4AB4A, UPI000006D921
EMBL: AL834199, BC005158, AC019103, CH471131
Ensembl: ENSG00000127419
KO: hsa:84286
Nucleutide sequences
EMBL-CDS: EAW82638.1, CAD38888.1, EAW82633.1, AAH05158.1, EAW82637.1, EAW82636.1, EAW82640.1
Gene_ORFName: hCG_34455
Ensembl_TRS: ENST00000622959, ENST00000264771, ENST00000515740, ENST00000508204
Protein sequencees
Ensembl_PRO: ENSP00000264771, ENSP00000485461, ENSP00000427039, ENSP00000423669
RefSeq: NP_001284353.1, XP_024310022.1, XP_024310020.1, XP_005272358.1, NP_001284352.1, XP_016864192.1, XP_005272361.1, XP_024310023.1, NP_001284355.1, XP_016864194.1, NP_115702.1, NP_001284357.1, NP_001284356.1, XP_024310021.1, NP_001284354.1, XP_005272360.1, XP_016864193.1, XP_016864190.1, XP_005272364.1
Others
UniRef100: UniRef100_Q9BSA9
UniRef90: UniRef90_Q9BSA9
UniRef50: UniRef50_Q9BSA9
UniGene: Hs.478936
CCDS: CCDS75088.1, CCDS3341.1

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