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23646 PLD3

23646

PLD3

phospholipase D family member 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition phospholipase D family member 3

研究结论

Date Results Publications
2020-03-28 10:13:00 the V232M mutation of PLD3 may affect Alzheimer's disease pathogenesis 31121321
2019-08-24 12:44:00 rs11667768 was significantly associated with CSF total-tau levels and hippocampal volumes at baseline and six-year follow-up in the total non-demented elderly group and the mild cognitive impairment subgroup, indicating a potential role of PLD3 common variants in influencing cognitive function through changing CSF total-tau levels and hippocampal volumes. 30103332
2019-07-20 10:13:00 PLD3 gene is downregulated in the hippocampus of Alzheimer's disease (AD) cases. Altered epigenetic mechanisms, such as differential DNA methylation within an alternative promoter of the gene, may be involved in the pathology of AD. PLD3 mRNA expression inversely correlates with hippocampal beta-amyloid burden, adding evidence that PLD3 protein may contribute to AD development by modifying APP processing. 30208929
2019-06-29 11:38:00 The results of this study indicated that rare variants of PLD3 may play an important role in late-onset Alzheimer's Disease in northern Han Chinese. 29865074
2018-11-03 11:53:00 Data show that phospholipase D3 (PLD3) functions in endosomal protein sorting and plays an important role in regulating amyloid precursor protein (APP) processing. 29368044

名称对应

Type IDs
Synonymous AD19, HU-K4, HUK4, SCA46
Gene
UniProtKB-ID: PLD3_HUMAN, A0A024R0Q4_HUMAN
UniprotKB: Q8IV08, A0A024R0Q4
UniParc: UPI000004FA75
EMBL: U60644, BC096820, CH471126, BC000553, BC036327
Ensembl: ENSG00000105223
KO: hsa:23646
Nucleutide sequences
EMBL-CDS: AAH00553.2, AAH96820.1, AAH36327.1, AAB16799.1, EAW56955.1, EAW56954.1, EAW56956.1, EAW56957.1, EAW56951.1, EAW56952.1, EAW56953.1, EAW56958.1, EAW56959.1
Gene_ORFName: hCG_1995506
Ensembl_TRS: ENST00000409735, ENST00000356508, ENST00000409419, ENST00000409281, ENST00000409587
Protein sequencees
Ensembl_PRO: ENSP00000387022, ENSP00000348901, ENSP00000386293, ENSP00000386938, ENSP00000387050
RefSeq: XP_005258766.1, XP_016882035.1, XP_011524994.1, XP_016882038.1, NP_001026866.1, XP_011524995.1, XP_016882037.1, XP_005258767.1, XP_005258764.1, NP_036400.2, NP_001278240.1, XP_005258761.1, XP_024307206.1, XP_006723185.1, XP_005258765.1
Others
UniRef100: UniRef100_Q8IV08
UniRef90: UniRef90_Q8IV08
UniRef50: UniRef50_Q8IV08
UniGene: Hs.257008
CCDS: CCDS33027.1

全选

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