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128637 TBC1D20

128637

TBC1D20

TBC1 domain family member 20

protein-coding

Homo sapiens

基因描述

Type Description
Definition TBC1 domain family member 20

研究结论

Date Results Publications
2021-01-16 15:58:00 Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. 32162791
2016-03-05 11:34:00 Warburg Micro syndrome is caused by TBC1D20 deficiency. 26063829
2014-02-15 11:54:00 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381
2013-02-23 11:24:00 The detailed molecular reaction mechanism of a complex between human Rab and RabGAP at the highest possible spatiotemporal resolution and in atomic detail, is described. 23236136
2012-08-11 11:27:00 The NS5A interaction with TBC1D20 and Rab1 is essential for the viral life cycle. 22491470

名称对应

Type IDs
Synonymous C20orf140, WARBM4
Gene
UniProtKB-ID: TBC20_HUMAN, Q9Y2V8_HUMAN
UniprotKB: Q96BZ9, Q9Y2V8
UniParc: UPI000006D549, UPI00015DF858, UPI000006F898, UPI0000071D36
EMBL: AL049761, AK291648, CH471133, BC014983, AK055573, AK127062, AL121747, AF116909, AB449906
Ensembl: ENSG00000125875
KO: hsa:128637
Nucleutide sequences
EMBL-CDS: BAF84337.1, BAC86808.1, BAH16649.1, EAX10670.1, AAD29636.1
Ensembl_TRS: ENST00000354200, ENST00000461304
Protein sequencees
Ensembl_PRO: ENSP00000346139, ENSP00000432280
RefSeq: XP_016883134.1, NP_653229.1, XP_006723603.1, XP_005260718.1
Others
UniRef100: UniRef100_Q9Y2V8, UniRef100_Q96BZ9
UniRef90: UniRef90_Q96BZ9, UniRef90_A0A2I3GKD1
UniRef50: UniRef50_Q96BZ9, UniRef50_A0A2I3GKD1
UniGene: Hs.590876
CCDS: CCDS13002.1

全选

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