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 prev... See more...

Aliases for ACMSD Gene

Aliases for ACMSD Gene

  • Aminocarboxymuconate Semialdehyde Decarboxylase 2 3 5
  • 2-Amino-3-Carboxymuconate-6-Semialdehyde Decarboxylase 3 4
  • Picolinate Carboxylase 3 4
  • EC 4.1.1.45 4 54

External Ids for ACMSD Gene

Previous GeneCards Identifiers for ACMSD Gene

  • GC02P133241
  • GC02P133883
  • GC02P135618
  • GC02P135806
  • GC02P135429
  • GC02P135312
  • GC02P127587
  • GC02P135596

Summaries for ACMSD Gene

Entrez Gene Summary for ACMSD 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-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]

GeneCards Summary for ACMSD Gene

ACMSD (Aminocarboxymuconate Semialdehyde Decarboxylase) is a Protein Coding gene. Diseases associated with ACMSD include Pellagra and Plantar Wart. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include aminocarboxymuconate-semialdehyde decarboxylase activity.

UniProtKB/Swiss-Prot Summary for ACMSD Gene

  • 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 cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway.

Additional gene information for ACMSD Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACMSD Gene

Genomics for ACMSD Gene

GeneHancer (GH) Regulatory Elements for ACMSD Gene

Promoters and enhancers for ACMSD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J134838 Promoter 0.8 EPDnew 750.6 +0.2 249 0.1 FOXA1 RAD21 SP1 RXRA FOXA2 JUND YY1 ZBTB33 FOXP1 HNF4A ACMSD piR-56341-121 CCNT2-AS1
GH02J134836 Enhancer 0.5 Ensembl ENCODE 750.6 -1.1 -1065 1.4 HLF YY1 ACMSD TMEM163 piR-45012-297 CCNT2-AS1
GH02J134450 Enhancer 1.1 Ensembl ENCODE 9.6 -387.0 -387047 1.8 GTF3C2 ZNF24 CTCF RBPJ NR2F6 MIXL1 CC2D1A NFYC RAD21 TEAD4 lnc-MGAT5-3 piR-39798 lnc-TMEM163-2 CCNT2 CCNT2-AS1 MGAT5 ACMSD TMEM163
GH02J134770 Enhancer 0.9 Ensembl ENCODE 10.2 -64.7 -64747 6 SMARCE1 L3MBTL2 TEAD4 CBFA2T2 ZNF639 RFX1 HDAC1 MNT NFE2 EZH2 TMEM163 ACMSD lnc-ACMSD-4 piR-48553-163 CCNT2-AS1
GH02J134866 Enhancer 0.7 Ensembl ENCODE 10.9 +28.6 28553 1 CTBP1 FOXA2 CEBPB ESRRA FOS FOXA1 ATF3 ACMSD TMEM163 MIR5590 piR-57134-065 CCNT2-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACMSD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACMSD gene promoter:
  • C/EBPalpha
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • PPAR-alpha

Genomic Locations for ACMSD Gene

Genomic Locations for ACMSD Gene
chr2:134,838,348-134,902,076
(GRCh38/hg38)
Size:
63,729 bases
Orientation:
Plus strand
chr2:135,596,117-135,659,604
(GRCh37/hg19)
Size:
63,488 bases
Orientation:
Plus strand

Genomic View for ACMSD Gene

Genes around ACMSD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACMSD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACMSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACMSD Gene

Proteins for ACMSD Gene

  • Protein details for ACMSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDX5-ACMSD_HUMAN
    Recommended name:
    2-amino-3-carboxymuconate-6-semialdehyde decarboxylase
    Protein Accession:
    Q8TDX5
    Secondary Accessions:
    • Q3B7X3
    • Q53SR5
    • Q96KY2

    Protein attributes for ACMSD Gene

    Size:
    336 amino acids
    Molecular mass:
    38035 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for ACMSD Gene

    Alternative splice isoforms for ACMSD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACMSD Gene

Selected DME Specific Peptides for ACMSD Gene

Q8TDX5:
  • RFVGLGTLPMQAP
  • LGTDYPFPLGE
  • LFVHPWDM
  • LSTVPVMFSYWAKP
  • AICSMIMGGVFEKFPKLKVCFAHGGG

Post-translational modifications for ACMSD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACMSD Gene

Gene Families for ACMSD Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ACMSD Gene

Suggested Antigen Peptide Sequences for ACMSD Gene

GenScript: Design optimal peptide antigens:
  • Picolinate carboxylase (ACMSD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDX5

UniProtKB/Swiss-Prot:

ACMSD_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. ACMSD family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. ACMSD family.
genes like me logo Genes that share domains with ACMSD: view

Function for ACMSD Gene

Molecular function for ACMSD Gene

UniProtKB/Swiss-Prot 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 cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-amino-3-carboxymuconate 6-semialdehyde + H(+) = 2-aminomuconate 6-semialdehyde + CO2; Xref=Rhea:RHEA:16557, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:77634, ChEBI:CHEBI:77803; EC=4.1.1.45; Evidence=. ;.

Enzyme Numbers (IUBMB) for ACMSD Gene

Phenotypes From GWAS Catalog for ACMSD Gene

Gene Ontology (GO) - Molecular Function for ACMSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001760 aminocarboxymuconate-semialdehyde decarboxylase activity IDA 12140278
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IDA 19843166
GO:0016787 hydrolase activity IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with ACMSD: view
genes like me logo Genes that share phenotypes with ACMSD: view

Animal Models for ACMSD Gene

MGI Knock Outs for ACMSD:
  • Acmsd Acmsd<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACMSD Gene

Localization for ACMSD Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACMSD gene
Compartment Confidence
cytosol 5
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ACMSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IBA,IDA 12140278
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACMSD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ACMSD Gene

Pathways & Interactions for ACMSD Gene

genes like me logo Genes that share pathways with ACMSD: view

UniProtKB/Swiss-Prot Q8TDX5-ACMSD_HUMAN

  • Pathway: Secondary metabolite metabolism; quinolate metabolism.

Gene Ontology (GO) - Biological Process for ACMSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006569 tryptophan catabolic process TAS 12140278
GO:0019748 secondary metabolic process IBA 21873635
GO:0051259 protein complex oligomerization IDA 25392945
GO:1904985 negative regulation of quinolinate biosynthetic process IDA 12140278
GO:1905004 picolinic acid biosynthetic process TAS 19843166
genes like me logo Genes that share ontologies with ACMSD: view

No data available for SIGNOR curated interactions for ACMSD Gene

Drugs & Compounds for ACMSD Gene

(7) Drugs for ACMSD Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0

(7) Additional Compounds for ACMSD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Amino-3-carboxymuconic acid semialdehyde
  • 2-amino-3-(3-Oxoprop-1-en-1-yl)but-2-enedioate
  • 2-amino-3-(3-Oxoprop-1-enyl)-but-2-enedioate
  • 2-amino-3-Carboxymuconate semialdehyde
  • 2-amino-3-(3-Oxoprop-1-en-1-yl)but-2-enedioic acid
  • 2-amino-3-(3-Oxoprop-1-enyl)-but-2-enedioic acid
16597-58-3
2-Aminomuconic acid
  • 2-Aminohexa-2,4-dienedioate
  • 2-Aminohexa-2,4-dienedioic acid
  • 2-Aminomuconate
  • O-Aminomuconate
4548-99-6
2-Aminomuconic acid semialdehyde
  • 2-Aminomuconate 6-semialdehyde
  • 2-Aminomuconate semialdehyde
  • 2-Aminomuconic semialdehyde
  • 2-Aminomuconic acid 6-semialdehyde
245128-91-0
genes like me logo Genes that share compounds with ACMSD: view

Transcripts for ACMSD Gene

mRNA/cDNA for ACMSD Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACMSD Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11
SP1: - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for ACMSD Gene

GeneLoc Exon Structure for
ACMSD
ECgene alternative splicing isoforms for
ACMSD

Expression for ACMSD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACMSD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACMSD Gene

This gene is overexpressed in Liver (x29.3) and Kidney - Cortex (x22.4).

Protein differential expression in normal tissues from HIPED for ACMSD Gene

This gene is overexpressed in Urine (28.9), Gallbladder (21.3), and Liver (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACMSD Gene



Protein tissue co-expression partners for ACMSD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACMSD Gene:

ACMSD

SOURCE GeneReport for Unigene cluster for ACMSD Gene:

Hs.655728

Evidence on tissue expression from TISSUES for ACMSD Gene

  • Kidney(4.6)
  • Liver(2.9)
genes like me logo Genes that share expression patterns with ACMSD: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACMSD Gene

Orthologs for ACMSD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACMSD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACMSD 33 32
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACMSD 33 32
  • 89.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACMSD 33 32
  • 89.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acmsd 17 33 32
  • 86.51 (n)
rat
(Rattus norvegicus)
Mammalia Acmsd 32
  • 84.92 (n)
oppossum
(Monodelphis domestica)
Mammalia ACMSD 33
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACMSD 33
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACMSD 33 32
  • 75.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACMSD 33
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acmsd 32
  • 70.44 (n)
zebrafish
(Danio rerio)
Actinopterygii acmsd 33 32
  • 73.21 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10505 32
worm
(Caenorhabditis elegans)
Secernentea Y71D11A.3 33 32
  • 55.32 (n)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06417 32
  • 45.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.63 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.63 32
Species where no ortholog for ACMSD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACMSD Gene

ENSEMBL:
Gene Tree for ACMSD (if available)
TreeFam:
Gene Tree for ACMSD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACMSD: view image

Paralogs for ACMSD Gene

No data available for Paralogs for ACMSD Gene

Variants for ACMSD Gene

Sequence variations from dbSNP and Humsavar for ACMSD Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000022171 -- 134,848,339(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000053825 -- 134,867,484(+) T/C intron_variant
rs1000136199 -- 134,848,608(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000231600 -- 134,879,394(+) C/T intron_variant
rs1000256834 -- 134,902,297(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ACMSD Gene

Variant ID Type Subtype PubMed ID
esv2672210 CNV deletion 23128226
esv3303881 CNV mobile element insertion 20981092
esv3345789 CNV insertion 20981092
esv3560185 CNV deletion 23714750
esv3592564 CNV loss 21293372
nsv476729 CNV novel sequence insertion 20440878

Variation tolerance for ACMSD Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACMSD Gene

Human Gene Mutation Database (HGMD)
ACMSD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACMSD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACMSD Gene

Disorders for ACMSD Gene

MalaCards: The human disease database

(6) MalaCards diseases for ACMSD Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pellagra
  • niacin deficiency
plantar wart
  • verruca plantaris
primary syphilis
  • early symptomatic syphilis
latent syphilis
  • syphilis, latent
secondary syphilis
  • secondary syphilis of viscera or bone
- elite association - COSMIC cancer census association via MalaCards
Search ACMSD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACMSD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACMSD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACMSD Gene

Publications for ACMSD Gene

  1. 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". (PMID: 12140278) Fukuoka S … Shibata K (The Journal of biological chemistry 2002) 2 3 4 23 56
  2. 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. (PMID: 19843166) Garavaglia S … Rizzi M (The FEBS journal 2009) 3 4 23 56
  3. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 43 56
  4. Tissue expression and biochemical characterization of human 2-amino 3-carboxymuconate 6-semialdehyde decarboxylase, a key enzyme in tryptophan catabolism. (PMID: 17288562) Pucci L … Raffaelli N (The FEBS journal 2007) 3 23 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for ACMSD Gene

Sources for ACMSD Gene