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7389 UROD

7389

UROD

uroporphyrinogen decarboxylase

protein-coding

Homo sapiens

基因描述

Type Description
Definition uroporphyrinogen decarboxylase

研究结论

Date Results Publications
2020-07-04 10:50:00 These results expand the molecular heterogeneity of Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria by adding a total of 19 novel UROD mutations. 30514647
2016-10-22 10:27:00 a new mutation in the UROD gene in Egyptian patients with Hepatoerythropoietic porphyria, is reported. 26789143
2015-07-04 11:42:00 a new insight in the conformational changes occurred in the mutant structures of UROD protein. 24777812
2014-06-14 10:22:00 Data suggest that the traditional Chinese medicine (TCM) candidate potential three-in-one inhibitors for three drug target proteins epidermal growth factor receptor (EGFR), Her2, and uroporphyrinogen decarboxylase (UROD) against head and neck cancer. 23140436
2013-12-28 11:04:00 Expression of the D306Y mutation results in an insoluble recombinant protein. G318R and K297N have little effect on the structure or activity of recombinant URO-D, but the proteins display reduced stability in vitro. 19656450

名称对应

Type IDs
Synonymous PCT, UPD
Gene
UniProtKB-ID: DCUP_HUMAN
UniprotKB: P06132
UniParc: UPI0000112E85
EMBL: AF104426, AF104425, AL359473, AF104434, AF104438, X89267, AK291877, CH471059, M14016, AF104436, AY292986, CR542057, AF104428, AF104433, AF104421, BC001778, AF104439, AF104432, AF104435, AF104424, AF104437, AF104429, AF104430, AF104422, AF104427, AF047383, AF104431, AF104423, AF104440, CR456976, U30787, BT006737, M60891
Ensembl: ENSG00000126088
KO: hsa:7389
Nucleutide sequences
EMBL-CDS: AAB59456.1, AAC03563.1, AAD04576.1, AAD04590.1, AAD04582.1, AAD04579.1, AAD04571.1, AAD04583.1, AAD04574.1, CAG46854.1, AAD04577.1, AAD04587.1, BAF84566.1, AAD04581.1, AAD04585.1, AAH01778.1, AAD04575.1, CAA61540.1, EAX07007.1, CAG33257.1, AAD04588.1, AAD04589.1, AAD04580.1, AAD04572.1, AAD04584.1, AAP35383.1, AAP44118.1, AAD04586.1, AAD04573.1, AAD04578.1, AAC50482.1, AAA61258.1
Ensembl_TRS: ENST00000246337
Protein sequencees
Ensembl_PRO: ENSP00000246337
RefSeq: NP_000365.3
Others
UniRef100: UniRef100_P06132
UniRef90: UniRef90_P06132
UniRef50: UniRef50_P06132
UniGene: Hs.78601
CCDS: CCDS518.1

全选

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