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51251 NT5C3A

51251

NT5C3A

5'-nucleotidase, cytosolic IIIA

protein-coding

Homo sapiens

基因描述

Type Description
Definition 5'-nucleotidase, cytosolic IIIA

研究结论

Date Results Publications
2020-04-18 12:48:00 A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency. 30951028
2019-09-21 12:52:00 Data indicate an anti-inflammatory pathway that depends on the catalytic activity of pyrimidine 5'-nucleotidase (NT5C3A) and functions as a negative feedback regulator of inflammatory cytokine signaling. 29463777
2018-07-23 13:17:00 Results from a study on gene expression variability markers in early-stage human embryos shows that NT5C3A is a putative expression variability marker for the 3-day, 8-cell embryo stage. 26288249
2017-09-16 12:56:00 reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients 27381654
2015-06-20 11:18:00 Pyrimidine-5'-nucleotidase Campinas is a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency. 25153905

名称对应

Type IDs
Synonymous NT5C3, P5'N-1, P5N-1, PN-I, POMP, PSN1, UMPH, UMPH1, cN-III, hUMP1, p36
Gene
UniProtKB-ID: 5NT3A_HUMAN, A0A024RA81_HUMAN, A0A090N7U2_HUMAN
UniprotKB: Q9H0P0, A0A024RA81, A0A090N7U2
UniParc: UPI000004EC75, UPI0000037BCB, UPI000013CAF4, UPI000013F9CB
EMBL: AK290118, BC071652, AC083863, AF312735, BC013292, BC066914, AL136716, AK314109, AACC02000103, BC015856, CH471073, AC074338, CR533518, AF151067
Ensembl: ENSG00000122643
KO: hsa:51251
Nucleutide sequences
EMBL-CDS: BAF82807.1, AAH71652.2, AAF36153.1, EAW94008.1, CAG38549.1, EAW94007.1, AAG33630.1, AAH13292.2, BAG36802.1, AAH15856.2, CAB66650.1, AAH66914.1, EAW94009.1, EAW94010.1, EAL24463.1
Gene_ORFName: HSPC233, hCG_2010191, tcag7.719
Ensembl_TRS: ENST00000405342, ENST00000409467, ENST00000381626, ENST00000643244
Protein sequencees
Ensembl_PRO: ENSP00000385261, ENSP00000387166, ENSP00000371039, ENSP00000496364
RefSeq: NP_001361266.1, NP_001002009.1, NP_057573.2, NP_001361264.1, NP_001361267.1, NP_001343925.1, NP_001361268.1, NP_001159590.1, NP_001361265.1, NP_001002010.2
Others
UniRef100: UniRef100_Q9H0P0, UniRef100_A0A024RA81
UniRef90: UniRef90_B2GUX5, UniRef90_Q9H0P0
UniRef50: UniRef50_Q9H0P0, UniRef50_Q9D020
UniGene: Hs.487933
CCDS: CCDS34617.1, CCDS55101.1

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