Type | Description |
---|---|
Definition | pyridoxamine 5'-phosphate oxidase |
Date | Results | Publications |
---|---|---|
2021-01-16 15:55:00 | Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy. | 32788630 |
2020-05-30 12:22:00 | results reveal the biological function and a regulatory mechanism of PNPO, in which the MALAT1/miR-216b-5p/PNPO axis may be important in breast invasive ductal carcinoma development | 30982780 |
2018-07-21 12:10:00 | TGF-beta1-mediated PNPO expression was at least in part through the upregulation of miR-143-3p in epithelial ovarian cancer. | 29238081 |
2018-05-19 11:17:00 | data support a pathogenic role of the c.347G>A (p.Arg116Gln) mutation in PNPO deficiency; the later onset of symptoms and the milder epilepsy phenotype of these expand the disease phenotype | 28818555 |
2016-08-20 10:12:00 | Exome sequencing revealed that the patient was compound heterozygous for pathogenic mutations [c.546+1G>A (IVS5+1 G>A) and c.620delG (p.G207VfsX215)] in the PNPO gene. | 26535729 |
Type | IDs |
---|---|
Synonymous | HEL-S-302, PDXPO |
Gene |
UniProtKB-ID:
PNPO_HUMAN,
V9HW45_HUMAN
UniprotKB:
Q9NVS9,
V9HW45
UniParc:
UPI0000E2461D,
UPI00017A85FF,
UPI000004A13F,
UPI000268B1A2
EMBL:
AK303665,
AK303792,
BC006525,
CH471109,
AK303536,
FJ224333,
AK001397,
AF468030,
GQ900985
Ensembl:
ENSG00000108439
KO:
hsa:55163
|
Nucleutide sequences |
EMBL-CDS:
BAA91668.1,
EAW94771.1,
BAG64562.1,
AAH06525.1,
BAG64749.1,
BAG64664.1,
EAW94770.1,
AAM76918.1,
ADO22502.1,
ACI46025.1
Ensembl_TRS:
ENST00000641856,
ENST00000582171,
ENST00000225573,
ENST00000642017,
ENST00000434554,
ENST00000585320
|
Protein sequencees |
Ensembl_PRO:
ENSP00000493302,
ENSP00000225573,
ENSP00000463994,
ENSP00000462345,
ENSP00000399960,
ENSP00000493224
RefSeq:
XP_005257557.1,
XP_011523270.1,
XP_016880302.1,
NP_060599.1
|
Others |
UniRef100:
UniRef100_Q9NVS9
UniRef90:
UniRef90_Q9NVS9
UniRef50:
UniRef50_Q9NVS9
UniGene:
Hs.631742
CCDS:
CCDS11522.1
|
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---|---|---|---|---|---|---|---|---|
Refseq |
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