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ACMSD aminocarboxymuconate semialdehyde decarboxylase [ Homo sapiens (human) ]

Gene ID: 130013, updated on 5-Mar-2024

Summary

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Official Symbol
ACMSDprovided by HGNC
Official Full Name
aminocarboxymuconate semialdehyde decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:19288
See related
Ensembl:ENSG00000153086 MIM:608889; AllianceGenome:HGNC:19288
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]
Expression
Biased expression in kidney (RPKM 17.3), liver (RPKM 10.7) and 1 other tissue See more
Orthologs
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Genomic context

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See ACMSD in Genome Data Viewer
Location:
2q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (134838616..134902034)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (135278873..135342322)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (135596186..135659604)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene VDAC2 pseudogene 4 Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene MPRA-validated peak3872 silencer Neighboring gene microRNA 5590 Neighboring gene CCNT2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:135675361-135676034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16569 Neighboring gene cyclin T2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135732781-135733282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135733283-135733782 Neighboring gene mitogen-activated protein kinase kinase kinase 19 Neighboring gene MPRA-validated peak3873 silencer

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A kynurenine pathway enzyme aminocarboxymuconate-semialdehyde decarboxylase may be involved in treatment-resistant depression, and baseline inflammation status of patients predicts treatment response: a pilot study. Yilmaz NS, et al. J Neural Transm (Vienna), 2022 Dec. PMID 36334154
  2. An enzyme in the kynurenine pathway that governs vulnerability to suicidal behavior by regulating excitotoxicity and neuroinflammation. Brundin L, et al. Transl Psychiatry, 2016 Aug 2. PMID 27483383, Free PMC Article
  3. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. Martí-Massó JF, et al. J Mol Med (Berl), 2013 Dec. PMID 23955123, Free PMC Article
  4. Human α-amino-β-carboxymuconate-ε-semialdehyde decarboxylase (ACMSD): a structural and mechanistic unveiling. Huo L, et al. Proteins, 2015 Jan. PMID 25392945, Free PMC Article
  5. 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. Garavaglia S, et al. FEBS J, 2009 Nov. PMID 19843166

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Limits production of the glutamatergic excitotoxin quinolinate, by diverting it to picolinate; inhibited by phthalates, by virtue of their structural similarity to nicotinate.
    Title: Phthalate esters enhance quinolinate production by inhibiting alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase (ACMSD), a key enzyme of the tryptophan pathway.
  2. A kynurenine pathway enzyme aminocarboxymuconate-semialdehyde decarboxylase may be involved in treatment-resistant depression, and baseline inflammation status of patients predicts treatment response: a pilot study.
    Title: A kynurenine pathway enzyme aminocarboxymuconate-semialdehyde decarboxylase may be involved in treatment-resistant depression, and baseline inflammation status of patients predicts treatment response: a pilot study.
  3. This study shows that ACMSD is a key regulator of mammalian dietary niacin requirements and NAD(+) metabolism.
    Title: Alpha-Amino-Beta-Carboxy-Muconate-Semialdehyde Decarboxylase Controls Dietary Niacin Requirements for NAD(+) Synthesis.
  4. The minor C allele of the ACMSD SNP rs2121337 was more prevalent in suicide attempters.
    Title: An enzyme in the kynurenine pathway that governs vulnerability to suicidal behavior by regulating excitotoxicity and neuroinflammation.
  5. 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.
    Title: Human α-amino-β-carboxymuconate-ε-semialdehyde decarboxylase (ACMSD): a structural and mechanistic unveiling.
  6. 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.
    Title: The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
  7. 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.
    Title: 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.
  8. identification and expression of cDNA
    Title: Identification 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".
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
EBI GWAS Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aminocarboxymuconate-semialdehyde decarboxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of quinolinate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in picolinic acid biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of 'de novo' NAD biosynthetic process from tryptophan TAS
Traceable Author Statement
more info
 PubMed 
involved_in secondary metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tryptophan catabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
2-amino-3-carboxymuconate-6-semialdehyde decarboxylase
Names
picolinate carboxylase
NP_001294912.1
NP_612199.2
XP_005263643.1
XP_005263645.1
XP_005263647.1
XP_011508894.1
XP_016858814.1
XP_016858815.1
XP_047299289.1
XP_054196473.1
XP_054196474.1
XP_054196475.1
XP_054196476.1
XP_054196477.1
XP_054196478.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001307983.2 → NP_001294912.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 2

    See identical proteins and their annotated locations for NP_001294912.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in its 5' UTR. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the alternate start codon to encode an isoform (2) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK125008, BC016018
    Consensus CDS
    CCDS77464.1
    UniProtKB/TrEMBL
    A0A0S2Z681
    Related
    ENSP00000376659.1, ENST00000392928.5
    Conserved Domains (1) summary
    pfam04909
    Location:26 → 272
    Amidohydro_2; Amidohydrolase

  2. NM_138326.3 → NP_612199.2  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 1

    See identical proteins and their annotated locations for NP_612199.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC016018, BC107420, BG428338
    Consensus CDS
    CCDS2173.2
    UniProtKB/Swiss-Prot
    Q3B7X3, Q53SR5, Q8TDX5, Q96KY2
    UniProtKB/TrEMBL
    Q6ZV40
    Related
    ENSP00000348459.5, ENST00000356140.10
    Conserved Domains (1) summary
    pfam04909
    Location:45 → 330
    Amidohydro_2; Amidohydrolase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    134838616..134902034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510592.3 → XP_011508894.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    See identical proteins and their annotated locations for XP_011508894.1

    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26 → 272
    Amidohydro_2; Amidohydrolase

  2. XM_047443333.1 → XP_047299289.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X4

  3. XM_017003325.2 → XP_016858814.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26 → 272
    Amidohydro_2; Amidohydrolase

  4. XM_005263588.5 → XP_005263645.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    See identical proteins and their annotated locations for XP_005263645.1

    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26 → 272
    Amidohydro_2; Amidohydrolase

  5. XM_005263586.5 → XP_005263643.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X1

    Conserved Domains (1) summary
    pfam04909
    Location:3 → 281
    Amidohydro_2; Amidohydrolase

  6. XM_017003326.2 → XP_016858815.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26 → 272
    Amidohydro_2; Amidohydrolase

  7. XM_005263590.5 → XP_005263647.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X3

    Conserved Domains (1) summary
    pfam04909
    Location:14 → 261
    Amidohydro_2; Amidohydrolase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    135278873..135342322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340499.1 → XP_054196474.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z681

  2. XM_054340503.1 → XP_054196478.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X4

  3. XM_054340500.1 → XP_054196475.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z681

  4. XM_054340501.1 → XP_054196476.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z681

  5. XM_054340498.1 → XP_054196473.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X1

  6. XM_054340502.1 → XP_054196477.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TDX5.1 GenPept UniProtKB/Swiss-Prot:Q8TDX5

Gene LinkOut

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