Type | Description |
---|---|
Definition | ATP synthase F1 subunit delta |
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 |
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
|
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Refseq |
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