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55163 PNPO

55163

PNPO

pyridoxamine 5'-phosphate oxidase

protein-coding

Homo sapiens

基因描述

Type Description
Definition pyridoxamine 5'-phosphate oxidase

研究结论

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

名称对应

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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