Property Summary

NCBI Gene PubMed Count 15
PubMed Score 43.15
PubTator Score 17.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Synonym

Accession Q8TDX5 Q3B7X3 Q53SR5 Q96KY2
Symbols

Gene

PDB

2WM1   4IGM   4IGN   4IH3   4OFC  

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.
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