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64601 VPS16

64601

VPS16

VPS16 core subunit of CORVET and HOPS complexes

protein-coding

Homo sapiens

基因描述

Type Description
Definition VPS16 core subunit of CORVET and HOPS complexes

研究结论

Date Results Publications
2020-12-19 13:43:00 Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. 32808683
2018-03-31 11:50:00 VPS16 is a new causative gene for adolescent-onset primary dystonia. 27174565
2013-11-16 10:04:00 HOPS subunit Vps16 recruits Vps33A to the human HOPS complex; residues 642-736 are necessary and sufficient for this interaction. 23901104

名称对应

Type IDs
Synonymous hVPS16
Gene
UniProtKB-ID: VPS16_HUMAN
UniprotKB: Q9H269
UniParc: UPI000002B6C5, UPI0000138B87
EMBL: AL834401, AL161656, BC064406, AF308801, AK055787, BC012422, BC021291
Ensembl: ENSG00000215305
KO: hsa:64601
Nucleutide sequences
EMBL-CDS: CAD39063.1, AAH64406.1, BAB71013.1, AAG34678.1, AAH12422.1, AAH21291.2
Ensembl_TRS: ENST00000380469, ENST00000380445
Protein sequencees
Ensembl_PRO: ENSP00000369810, ENSP00000369836
RefSeq: NP_072097.2, NP_536338.1
Others
UniRef100: UniRef100_Q9H269
UniRef90: UniRef90_Q9H269
UniRef50: UniRef50_Q9H269
UniGene: Hs.269577
CCDS: CCDS13036.1, CCDS13037.1

全选

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