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738 VPS51

738

VPS51

VPS51 subunit of GARP complex

protein-coding

Homo sapiens

基因描述

Type Description
Definition VPS51 subunit of GARP complex

研究结论

Date Results Publications
2019-12-14 10:49:00 This observation supports a pathogenic effect of VPS51 variants, which has only been reported previously once, in a single child with microcephaly. It confirms the key role of membrane trafficking in normal brain development and homeostasis. 31207318
2014-03-29 11:15:00 A dityrosine motif of Ang2 interacts with a highly conserved groove in Syntaxin 6. 23932592
2011-01-22 11:03:00 Ang2 is the missing component of the Golgi-associated retrograde protein complex in most eukaryotes. 20685960

名称对应

Type IDs
Synonymous ANG2, ANG3, C11orf2, C11orf3, FFR
Gene
UniProtKB-ID: VPS51_HUMAN
UniprotKB: Q9UID3
UniParc: UPI0000071A0A, UPI000006D6D8
EMBL: AL833818, AF024631, BC006555, AP003068, BC010540, BC009285, BC007198, BC017438, AF289557
Ensembl: ENSG00000149823
KO: hsa:738
Nucleutide sequences
EMBL-CDS: AAL55741.1, AAH09285.2, AAH06555.2, CAD38681.2, AAF21627.2, AAH10540.1, AAH17438.1, AAH07198.1
Gene_ORFName: PP5382
Ensembl_TRS: ENST00000279281
Protein sequencees
Ensembl_PRO: ENSP00000279281
RefSeq: NP_037397.2
Others
UniRef100: UniRef100_Q9UID3
UniRef90: UniRef90_Q9UID3
UniRef50: UniRef50_Q9UID3
UniGene: Hs.277517, Hs.732951
CCDS: CCDS8093.1

全选

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