ACMSD (aminocarboxymuconate semialdehyde decarboxylase)

2014-11-01  

Identity

HGNC
LOCATION
2q21.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 130013
MIM: 608889
HGNC: 19288
Ensembl: ENSG00000153086

Variants:

dbSNP: 130013
ClinVar: 130013
TCGA: ENSG00000153086
COSMIC: ACMSD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153086ENST00000356140Q8TDX5
ENSG00000153086ENST00000392928A0A0S2Z681

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Tryptophan metabolismKEGGko00380
Tryptophan metabolismKEGGhsa00380
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Tryptophan catabolismREACTOMER-HSA-71240
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
274833832016An enzyme in the kynurenine pathway that governs vulnerability to suicidal behavior by regulating excitotoxicity and neuroinflammation.21
121402782002Identification 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".18
198431662009The 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.14
239551232013The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.12
253929452015Human α-amino-β-carboxymuconate-ε-semialdehyde decarboxylase (ACMSD): a structural and mechanistic unveiling.6
303804242018Alpha-Amino-Beta-Carboxy-Muconate-Semialdehyde Decarboxylase Controls Dietary Niacin Requirements for NAD+ Synthesis.3

Citation

Dessen P

ACMSD (aminocarboxymuconate semialdehyde decarboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60084/acmsd-(aminocarboxymuconate-semialdehyde-decarboxylase)