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ACMSD aminocarboxymuconate semialdehyde decarboxylase [ Homo sapiens (human) ]

Gene ID: 130013, updated on 15-Apr-2019

Summary

Official Symbol
ACMSDprovided by HGNC
Official Full Name
aminocarboxymuconate semialdehyde decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:19288
See related
Ensembl:ENSG00000153086 MIM:608889
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

Genomic context

See ACMSD in Genome Data Viewer
Location:
2q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (134838319..134902906)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (135595994..135659604)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene voltage dependent anion channel 2 pseudogene 4 Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene microRNA 5590 Neighboring gene CCNT2 antisense RNA 1 Neighboring gene cyclin T2 Neighboring gene mitogen-activated protein kinase kinase kinase 19

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminocarboxymuconate-semialdehyde decarboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_005263646.1
XP_005263647.1
XP_011508894.1
XP_016858814.1
XP_016858815.1
XP_024308458.1
XP_024308459.1

NCBI Reference Sequences (RefSeq)

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_001307983.1NP_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/Swiss-Prot
    Q8TDX5
    UniProtKB/TrEMBL
    A0A0S2Z681, Q6ZV40
    Related
    ENSP00000376659.1, ENST00000392928.5
    Conserved Domains (1) summary
    pfam04909
    Location:26272
    Amidohydro_2; Amidohydrolase
  2. NM_138326.3NP_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
    Q8TDX5
    Related
    ENSP00000348459.5, ENST00000356140.10
    Conserved Domains (1) summary
    pfam04909
    Location:50330
    Amidohydro_2; Amidohydrolase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    134838319..134902906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263586.4XP_005263643.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X1

    Conserved Domains (1) summary
    pfam04909
    Location:3281
    Amidohydro_2; Amidohydrolase
  2. XM_005263589.4XP_005263646.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X3

    Conserved Domains (1) summary
    pfam04909
    Location:1268
    Amidohydro_2; Amidohydrolase
  3. XM_011510592.2XP_011508894.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    See identical proteins and their annotated locations for XP_011508894.1

    UniProtKB/Swiss-Prot
    Q8TDX5
    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26272
    Amidohydro_2; Amidohydrolase
  4. XM_024452690.1XP_024308458.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X3

    Conserved Domains (1) summary
    pfam04909
    Location:1268
    Amidohydro_2; Amidohydrolase
  5. XM_017003325.1XP_016858814.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    UniProtKB/Swiss-Prot
    Q8TDX5
    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26272
    Amidohydro_2; Amidohydrolase
  6. XM_024452691.1XP_024308459.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X3

    Conserved Domains (1) summary
    pfam04909
    Location:1268
    Amidohydro_2; Amidohydrolase
  7. XM_005263588.4XP_005263645.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    See identical proteins and their annotated locations for XP_005263645.1

    UniProtKB/Swiss-Prot
    Q8TDX5
    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26272
    Amidohydro_2; Amidohydrolase
  8. XM_017003326.1XP_016858815.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X2

    UniProtKB/Swiss-Prot
    Q8TDX5
    UniProtKB/TrEMBL
    A0A0S2Z681
    Conserved Domains (1) summary
    pfam04909
    Location:26272
    Amidohydro_2; Amidohydrolase
  9. XM_005263590.4XP_005263647.1  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform X4

    Conserved Domains (1) summary
    pfam04909
    Location:14261
    Amidohydro_2; Amidohydrolase
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