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5631 PRPS1

5631

PRPS1

phosphoribosyl pyrophosphate synthetase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphoribosyl pyrophosphate synthetase 1

研究结论

Date Results Publications
2021-01-09 13:25:00 A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature. 31773495
2020-05-30 12:29:00 High PRPS1 expression is associated with colorectal cancer. 31253668
2020-05-30 12:18:00 CMTX5 is probably under-diagnosed, as an overlap among the different features due to PRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for 31338985
2019-11-02 10:54:00 Our study not only provides mechanistic rationale for re-targeting drug resistant cells in acute lymphoblastic leukemia (ALL), but also implicates that ALL patients who harbor relapse-specific mutations of PRPS1 might benefit from 5-FU-based chemotherapy in clinical settings. 30255549
2019-03-30 11:41:00 PRPS1 protein and transcript levels are detected as significantly decreased in cell lines derived from the Hutchinson-Gilford progeria syndrome patients. 30379953

名称对应

Type IDs
Synonymous ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
Gene
UniProtKB-ID: PRPS1_HUMAN, A0A0A0MRQ9_HUMAN, B7ZB02_HUMAN
UniprotKB: P60891, A0A0A0MRQ9, B7ZB02
UniParc: UPI0016301298, UPI0001915332, UPI00000000A5, UPI00005ABAA6
EMBL: AL772400, AK312706, CH471120, X15331, AL137787, AK297968, BC001605, D00860, AK316467
Ensembl: ENSG00000147224
KO: hsa:5631
Nucleutide sequences
EMBL-CDS: EAX02709.1, BAG35584.1, CAA33386.1, EAX02711.1, EAX02710.1, BAG60278.1, AAH01605.1, BAA00733.1, BAH14838.1
Ensembl_TRS: ENST00000372435, ENST00000372428
Protein sequencees
Ensembl_PRO: ENSP00000361512, ENSP00000361505
RefSeq: NP_002755.1, NP_001191331.1
Others
UniRef100: UniRef100_P60891, UniRef100_L9L7D1, UniRef100_A0A0A0MRQ9
UniRef90: UniRef90_P60891, UniRef90_L9L7D1, UniRef90_A0A0A0MRQ9
UniRef50: UniRef50_L9L7D1, UniRef50_A0A0A0MRQ9, UniRef50_P60891
UniGene: Hs.56
CCDS: CCDS14529.1

全选

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