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64175 P3H1

64175

P3H1

prolyl 3-hydroxylase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition prolyl 3-hydroxylase 1

研究结论

Date Results Publications
2021-02-06 13:53:00 Upregulated LEPRE1 correlates with poor outcome and its knockdown attenuates cells proliferation, migration and invasion in osteosarcoma. 32197005
2020-10-24 14:01:00 Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.", trans "Osteogenesis imperfecta causada por mutacion en los genes COL1A1, CRTAP y LEPRE1. Estudio de 2casos. 30389107
2017-06-24 12:40:00 P3H1 mutation is associated with Non-Lethal Type VIII Osteogenesis Imperfecta. 27383115
2016-09-17 10:43:00 This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI. 26634552
2014-01-04 13:17:00 An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro. 24043621

名称对应

Type IDs
Synonymous GROS1, LEPRE1, OI8
Gene
UniProtKB-ID: P3H1_HUMAN
UniprotKB: Q32P28
UniParc: UPI000003B0B3, UPI0000D89841, UPI000013E32E, UPI0000578D47
EMBL: AF097431, AK075418, AF097432, BT007039, AK027648, BC108311, AK027697, AK027680, AK025841, BC015309
Ensembl: ENSG00000117385
KO: hsa:64175
Nucleutide sequences
EMBL-CDS: BAB55264.1, BAB15256.1, BAB55291.1, AAP35688.1, AAH15309.2, AAG31019.1, BAB55305.1, AAG31018.1, BAC11608.1, AAI08312.1
Gene_ORFName: PSEC0109
Ensembl_TRS: ENST00000296388, ENST00000236040, ENST00000397054
Protein sequencees
Ensembl_PRO: ENSP00000236040, ENSP00000296388, ENSP00000380245
RefSeq: NP_001230175.1, XP_011540250.1, XP_016857540.1, NP_071751.3, XP_016857541.1, XP_005271167.1, NP_001139761.1
Others
UniRef100: UniRef100_Q32P28
UniRef90: UniRef90_Q32P28
UniRef50: UniRef50_Q32P28
UniGene: Hs.720014
CCDS: CCDS57986.1, CCDS472.2, CCDS53307.1

全选

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