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55191 NADSYN1

55191

NADSYN1

NAD synthetase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition NAD synthetase 1

研究结论

Date Results Publications
2020-04-25 11:34:00 Homo sapiens NAD(+) synthetase (hsNadE) lacks substrate specificity for glutamine over ammonia. 31911602
2020-04-18 10:15:00 Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644
2016-04-16 11:31:00 Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations 26149120
2014-12-06 10:19:00 NADSYN1/DHCR7 locus (rs12785878 and rs1790349) polymorphisms have an effect on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence 24642724
2014-02-22 11:13:00 Data indicate that SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with rheumatoid arthritis (RA). 23636220

名称对应

Type IDs
Gene
UniProtKB-ID: NADE_HUMAN
UniprotKB: Q6IA69
UniParc: UPI000013ECFA, UPI00001404C2
EMBL: AK097946, AP000867, BC003666, CR457286, AP002387, BC003638, AK001493, AB091316, AK022436, CH471076
Ensembl: ENSG00000172890
KO: hsa:55191
Nucleutide sequences
EMBL-CDS: EAW74792.1, AAH03666.1, CAG33567.1, BAG53556.1, AAH03638.1, BAA91722.1, BAB14034.1, BAC65148.1
Ensembl_TRS: ENST00000319023
Protein sequencees
Ensembl_PRO: ENSP00000326424
RefSeq: NP_060631.2
Others
UniRef100: UniRef100_Q6IA69
UniRef90: UniRef90_Q6IA69
UniRef50: UniRef50_Q6IA69
UniGene: Hs.556986
CCDS: CCDS8201.1

全选

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