ACMSD (aminocarboxymuconate semialdehyde decarboxylase)

Gene

• Entrez ID: 130013
• Gene name: Aminocarboxymuconate semialdehyde decarboxylase
• Gene symbol: ACMSD
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2q21.3
• Summary: 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

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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001760	Function	Aminocarboxymuconate-semialdehyde decarboxylase activity	IDA	17288562
GO:0001760	Function	Aminocarboxymuconate-semialdehyde decarboxylase activity	IDA	12140278, 17288562, 25392945
GO:0001760	Function	Aminocarboxymuconate-semialdehyde decarboxylase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	12140278
GO:0006569	Process	L-tryptophan catabolic process	IEA
GO:0006569	Process	L-tryptophan catabolic process	TAS	12140278, 19843166
GO:0008270	Function	Zinc ion binding	IDA	19843166, 25392945
GO:0016787	Function	Hydrolase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0019748	Process	Secondary metabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:1904985	Process	Negative regulation of quinolinate biosynthetic process	IDA	12140278
GO:1905004	Process	Picolinic acid biosynthetic process	TAS	19843166
GO:1905012	Process	Regulation of 'de novo' NAD biosynthetic process from L-tryptophan	TAS	12140278, 19843166

Other IDs

• MIM: 608889
• HGNC: 19288
• e!Ensembl: 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:

  MKIDIHSHILPKEWPDLKKRFGYGGWVQLQHHSKGEAKLLKDGKVFRVVRENCWDPEVRI
  REMDQKGVTVQALSTVPVMFSYWAKPEDTLNLCQLLNNDLASTVVSYPRRFVGLGTLPMQ
  APELAVKEMERCVKELGFPGVQIGTHVNEWDLNAQELFPVYAAAERLKCSLFVHPWDMQM
  DGRMAKYWLPWLVGMPAETTIAICSMIMGGVFEKFPKLKVCFAHGGGAFPFTVGRISHGF
  SMRPDLCAQDNPMNPKKYLGSFYTDALVHDPLSLKLLTDVIGKDKVILGTDYPFPLGELE
  PGKLIESMEEFDEETKNKLKAGNALAFLGLERKQFE

• Sequence length: 336

Pathways

KEGG:

Tryptophan metabolism
Metabolic pathways

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ACMSD-related disorder	Likely benign; Benign	rs774566936, rs138304352, rs41320845	RCV003981779 RCV003976912 RCV003970664
See cases	Uncertain significance	rs765944905	RCV001198105

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