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57020 VPS35L

57020

VPS35L

VPS35 endosomal protein sorting factor like

protein-coding

Homo sapiens

基因描述

Type Description
Definition VPS35 endosomal protein sorting factor like

研究结论

Date Results Publications
2021-02-06 13:49:00 Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 31712251
2017-10-28 12:17:00 Heterotrimer composed of DSCR3, C16orf62 and VPS29 orchestrates endosomal cargo retrieval and recycling. 28892079
2010-09-15 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 19913121
2010-09-15 22:06:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 20532202
2010-09-15 22:06:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086

名称对应

Type IDs
Synonymous C16orf62
Gene
UniProtKB-ID: VP35L_HUMAN, E7EWW0_HUMAN, B3KT69_HUMAN, F5H7K1_HUMAN
UniprotKB: Q7Z3J2, E7EWW0, B3KT69, F5H7K1
UniParc: UPI0001E1129C, UPI000204A913, UPI00015E0F84, UPI000018CE96, UPI00003E5E60
EMBL: AC012621, BC050464, BC058845, AK290286, BC014900, AL136744, AL833428, AK024693, AF461052, AK095078, BX537867, AC002550
Ensembl: ENSG00000103544
KO: hsa:57020
Nucleutide sequences
EMBL-CDS: CAD97869.1, BAF82975.1, CAB66678.1, AAH14900.2, AAL67806.2, AAH58845.1, AAC05806.1, CAH10399.1, AAH50464.1, BAB14965.1, BAG52981.1
Gene_ORFName: 101F10.2
Ensembl_TRS: ENST00000417362, ENST00000251143, ENST00000438132, ENST00000542263
Protein sequencees
Ensembl_PRO: ENSP00000395973, ENSP00000251143, ENSP00000400815, ENSP00000442468
RefSeq: NP_001287672.2, NP_001352222.1, NP_064710.5, NP_001352224.1, XP_011544199.1, NP_001352223.1
Others
UniRef100: UniRef100_F5H7K1, UniRef100_B3KT69, UniRef100_Q7Z3J2
UniRef90: UniRef90_F5H7K1, UniRef90_B3KT69, UniRef90_Q7Z3J2
UniRef50: UniRef50_Q7Z3J2, UniRef50_Q7Z3J2-2
UniGene: Hs.654964
CCDS: CCDS32397.2

全选

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