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130013 ACMSD

130013

ACMSD

aminocarboxymuconate semialdehyde decarboxylase

protein-coding

Homo sapiens

基因描述

Type Description
Definition aminocarboxymuconate semialdehyde decarboxylase

研究结论

Date Results Publications
2019-12-14 11:05:00 This study shows that ACMSD is a key regulator of mammalian dietary niacin requirements and NAD(+) metabolism. 30380424
2017-11-18 13:31:00 The minor C allele of the ACMSD SNP rs2121337 was more prevalent in suicide attempters. 27483383
2015-08-15 10:06:00 The crystal structures of the human enzyme in its native catalytically active state, a substrate analogue-bound form and a selected active site mutant form with one of the putative substrate binding residues altered, are reported. 25392945
2014-07-19 12:21:00 ACMSD is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. ACMSD mutation contributes to the development of Familial cortical myoclonic tremor and epilepsy. 23955123
2010-02-22 11:39:00 Data report a crystal structure of human ACMSD in complex with the glycolytic intermediate 1,3-dihydroxyacetonephosphate (DHAP),suggesting a regulatory link between NAD synthesis and glycolysis. 19843166

名称对应

Type IDs
Gene
UniProtKB-ID: ACMSD_HUMAN, A0A0S2Z681_HUMAN, Q6ZV40_HUMAN
UniprotKB: Q8TDX5, A0A0S2Z681, Q6ZV40
UniParc: UPI00001C0A7E, UPI0000070838, UPI000006FB91
EMBL: BC016018, AC016725, BC107420, AK125008, KU178859, AB071418, CH471058
Ensembl: ENSG00000153086
KO: hsa:130013
Nucleutide sequences
EMBL-CDS: EAX11650.1, BAB86938.1, EAX11651.1, AAH16018.1, EAX11652.1, AAY14997.1, AAI07421.1, ALQ34317.1, BAC86023.1
Ensembl_TRS: ENST00000356140, ENST00000392928
Protein sequencees
Ensembl_PRO: ENSP00000376659, ENSP00000348459
RefSeq: XP_005263645.1, XP_011508894.1, XP_005263646.1, XP_024308458.1, XP_016858814.1, XP_024308459.1, NP_612199.2, XP_005263643.1, XP_005263647.1, XP_016858815.1, NP_001294912.1
Others
UniRef100: UniRef100_Q8TDX5, UniRef100_Q6ZV40, UniRef100_Q8TDX5-2
UniRef90: UniRef90_Q8TDX5, UniRef90_Q8TDX5-2, UniRef90_Q6ZV40
UniRef50: UniRef50_Q8TDX5, UniRef50_T1FN07, UniRef50_Q8TDX5-2
UniGene: Hs.655728
CCDS: CCDS77464.1, CCDS2173.2

全选

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