Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
130013
Gene name Gene Name - the full gene name approved by the HGNC.
Aminocarboxymuconate semialdehyde decarboxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACMSD
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-mucon
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1924863 hsa-miR-520d-5p CLIP-seq
MIRT1924864 hsa-miR-524-5p CLIP-seq
MIRT1924865 hsa-miR-570 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001760 Function Aminocarboxymuconate-semialdehyde decarboxylase activity IDA 12140278, 25392945
GO:0005515 Function Protein binding IPI 25416956
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA 12140278
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608889 19288 ENSG00000153086
Protein
UniProt ID Q8TDX5
Protein name 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase (EC 4.1.1.45) (Picolinate carboxylase)
Protein function Converts alpha-amino-beta-carboxymuconate-epsilon-semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). ACMS can be converted non-enzymatically to quinolate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal c
PDB 2WM1 , 4IGM , 4IGN , 4IH3 , 4OFC , 7PWY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04909 Amidohydro_2 3 330 Amidohydrolase Domain
Sequence
Sequence length 336
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Tryptophan metabolism
Metabolic pathways
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 25918132 ClinVar
Epilepsy epilepsy GenCC
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 36340933
Epilepsy Associate 23955123
Epilepsy Myoclonic Benign Adult Familial Type 1 Associate 23955123
Epileptic Syndromes Associate 23955123
Glioma Associate 25415278
Immunologic Deficiency Syndromes Inhibit 23955123
Parkinson Disease Associate 21812969, 24312176, 27393345, 28671144
Parkinson Disease Secondary Associate 23955123