Property Summary

NCBI Gene PubMed Count 15
PubMed Score 43.15
PubTator Score 17.39

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (2)

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (4)

PMID Text
25392945 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.
23955123 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.
19843166 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.
12140278 identification and expression of cDNA

AA Sequence

MKIDIHSHILPKEWPDLKKRFGYGGWVQLQHHSKGEAKLLKDGKVFRVVRENCWDPEVRIREMDQKGVTV      1 - 70
QALSTVPVMFSYWAKPEDTLNLCQLLNNDLASTVVSYPRRFVGLGTLPMQAPELAVKEMERCVKELGFPG     71 - 140
VQIGTHVNEWDLNAQELFPVYAAAERLKCSLFVHPWDMQMDGRMAKYWLPWLVGMPAETTIAICSMIMGG    141 - 210
VFEKFPKLKVCFAHGGGAFPFTVGRISHGFSMRPDLCAQDNPMNPKKYLGSFYTDALVHDPLSLKLLTDV    211 - 280
IGKDKVILGTDYPFPLGELEPGKLIESMEEFDEETKNKLKAGNALAFLGLERKQFE                  281 - 336
//

Text Mined References (16)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25416956 2014 A proteome-scale map of the human interactome network.
25392945 2015 Human ?-amino-?-carboxymuconate-?-semialdehyde decarboxylase (ACMSD): a structural and mechanistic unveiling.
25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
24816252 2014 An atlas of genetic influences on human blood metabolites.
23955123 2013 The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
21292315 2011 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
19843166 2009 The crystal structure of human alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase in complex with 1,3-dihydroxyacetonephosphate suggests a regulatory link between NAD synthesis and glycolysis.
17288562 2007 Tissue expression and biochemical characterization of human 2-amino 3-carboxymuconate 6-semialdehyde decarboxylase, a key enzyme in tryptophan catabolism.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12140278 2002 Identification and expression of a cDNA encoding human alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase (ACMSD). A key enzyme for the tryptophan-niacine pathway and "quinolinate hypothesis".