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8943 AP3D1

8943

AP3D1

adaptor related protein complex 3 subunit delta 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition adaptor related protein complex 3 subunit delta 1

研究结论

Date Results Publications
2020-02-08 11:33:00 We further demonstrated an abnormal storage pathway in the platelets. The current study represents a second confirmation report and implicates AP3D1 mutations as a cause of Hermansky-Pudlak Syndrome type 10. 30472485
2015-10-24 11:31:00 A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese 24916648
2013-04-27 11:19:00 Unexpectedly, no evidence of binding between the N-terminal matrix (MA) domain of HIV-1 Gag and the cellular AP-3 (AP-3delta) was observed in these in vitro experiments. 22705971
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-04-07 21:39:00 Observational study of gene-disease association. (HuGE Navigator) 20198315

名称对应

Type IDs
Synonymous ADTD, HPS10, hBLVR
Gene
UniProtKB-ID: AP3D1_HUMAN
UniprotKB: O14617
UniParc: UPI000002A2ED, UPI0000202F99, UPI000002A2EE, UPI000002A2EC, UPI0000125031
EMBL: AC005545, AB208804, AF130042, AF002163, BC010065, U91930
Ensembl: ENSG00000065000
KO: hsa:8943
Nucleutide sequences
EMBL-CDS: AAG35473.1, AAC51761.1, AAD03777.1, BAD92041.1, AAC34214.1, AAC34212.1, AAH10065.1
Gene_ORFName: PRO0039
Ensembl_TRS: ENST00000345016, ENST00000643116
Protein sequencees
Ensembl_PRO: ENSP00000495274, ENSP00000344055
RefSeq: NP_003929.4, XP_016882911.1, NP_001361728.1, NP_001248755.1
Others
UniRef100: UniRef100_O14617
UniRef90: UniRef90_O14617
UniRef50: UniRef50_O14617
UniGene: Hs.512815
CCDS: CCDS58638.1, CCDS42459.1

全选

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