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513 ATP5F1D

513

ATP5F1D

ATP synthase F1 subunit delta

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATP synthase F1 subunit delta

研究结论

Date Results Publications
2018-12-22 10:13:00 These data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation. 29478781
2018-03-03 11:48:00 Immunohistochemical and immunofluorescent double staining of ATP5D and synaptophysin showed that the reduction of ATP5D was most pronounced at synapses in amyotrophic lateral sclerosis 27899032

名称对应

Type IDs
Synonymous ATP5D, MC5DN5
Gene
UniProtKB-ID: ATPD_HUMAN
UniprotKB: P30049
UniParc: UPI000004493C
EMBL: AC004221, BC004426, BC018079, X63422, BC002389, S87918, CR542218, S87916, CH471139, X63423
Ensembl: ENSG00000099624
KO: hsa:513
Nucleutide sequences
EMBL-CDS: ABB76284.1, CAA45016.1, EAW69532.1, AAA08055.1, CAG47014.1, AAH02389.1, AAH04426.1, AAH18079.1, EAW69534.1, CAA45017.1, AAC04304.1, EAW69533.1
Ensembl_TRS: ENST00000591660, ENST00000395633, ENST00000215375
Protein sequencees
Ensembl_PRO: ENSP00000215375, ENSP00000378995, ENSP00000464863
RefSeq: NP_001678.1, NP_001001975.1
Others
UniRef100: UniRef100_P30049
UniRef90: UniRef90_P30049
UniRef50: UniRef50_P30049
UniGene: Hs.418668
CCDS: CCDS12058.1

全选

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