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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACMSD-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	36340933	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortex myoclonus	Cerebral Cortex Myoclonus	BEFREE	23955123		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23955123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	23955123	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Myoclonic Benign Adult Familial Type 1	Benign adult familial myoclonic epilepsy	Pubtator	23955123	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25415278	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11802786		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11802786		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23209189		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21812969, 24312176, 27393345, 28671144	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24312176, 24631562, 26601739, 27393345, 28671144, 29103054, 30719275, 31430546		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	23955123	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23955123, 29103054		★☆☆☆☆ Found in Text Mining only