ACOD1 aconitate decarboxylase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACOD1provided by HGNC
Official Full Name: aconitate decarboxylase 1provided by HGNC
Primary source: HGNC:HGNC:33904
See related: Ensembl:ENSG00000102794 MIM:615275; AllianceGenome:HGNC:33904
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
Also known as: CAD; IRG1
Summary: Enables aconitate decarboxylase activity. Involved in defense response; positive regulation of antimicrobial humoral response; and tolerance induction to lipopolysaccharide. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 13q22.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (76948511..76958638)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (76172176..76182288)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (77522646..77532773)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Clinical features of 6 children with uridine-responsive developmental epileptic encephalopathy 50 caused by CAD gene variants].
Title: [Clinical features of 6 children with uridine-responsive developmental epileptic encephalopathy 50 caused by CAD gene variants].
Amino acid positions near the active site determine the reduced activity of human ACOD1 compared to murine ACOD1.
Title: Amino acid positions near the active site determine the reduced activity of human ACOD1 compared to murine ACOD1.
Targeting IRG1 reverses the immunosuppressive function of tumor-associated macrophages and enhances cancer immunotherapy.
Title: Targeting IRG1 reverses the immunosuppressive function of tumor-associated macrophages and enhances cancer immunotherapy.
Macrophages inhibit Coxiella burnetii by the ACOD1-itaconate pathway for containment of Q fever.
Title: Macrophages inhibit Coxiella burnetii by the ACOD1-itaconate pathway for containment of Q fever.
Aconitate decarboxylase 1 is a mediator of polymicrobial sepsis.
Title: Aconitate decarboxylase 1 is a mediator of polymicrobial sepsis.
The Tumor Necrosis Factor Alpha and Interleukin 6 Auto-paracrine Signaling Loop Controls Mycobacterium avium Infection via Induction of IRF1/IRG1 in Human Primary Macrophages.
Title: The Tumor Necrosis Factor Alpha and Interleukin 6 Auto-paracrine Signaling Loop Controls Mycobacterium avium Infection via Induction of IRF1/IRG1 in Human Primary Macrophages.
Itaconate prevents abdominal aortic aneurysm formation through inhibiting inflammation via activation of Nrf2.
Title: Itaconate prevents abdominal aortic aneurysm formation through inhibiting inflammation via activation of Nrf2.
Immune-Responsive Gene 1/Itaconate Activates Nuclear Factor Erythroid 2-Related Factor 2 in Hepatocytes to Protect Against Liver Ischemia-Reperfusion Injury.
Title: Immune-Responsive Gene 1/Itaconate Activates Nuclear Factor Erythroid 2-Related Factor 2 in Hepatocytes to Protect Against Liver Ischemia-Reperfusion Injury.
Role of IRG1 in Regulating Pro-inflammatory and Pro-labor Mediators in Human Myometrium.
Title: Role of IRG1 in Regulating Pro-inflammatory and Pro-labor Mediators in Human Myometrium.
identified 8 active-site residues critical for CAD function and rare naturally occurring human mutations in the active site that abolished CAD activity, as well as a variant (Asn152Ser) that increased CAD activity and is common (allele frequency 20%) in African ethnicity
Title: Crystal structure of cis-aconitate decarboxylase reveals the impact of naturally occurring human mutations on itaconate synthesis.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. EBI GWAS Catalog EBI GWAS CatalogPubMed
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S1007 (e-PCR)
- UniSTS:152340

D13S1011 (e-PCR)
- UniSTS:152344

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aconitate decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aconitate decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to interferon-beta	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to interleukin-1	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to molecule of bacterial origin	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to progesterone stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to tumor necrosis factor	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to type II interferon	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryo implantation	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of toll-like receptor 2 signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of toll-like receptor 4 signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of type I interferon production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of antimicrobial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in tolerance induction to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cis-aconitate decarboxylase

Names: cis-aconitic acid decarboxylase; immune-responsive gene 1 protein homolog; immunoresponsive 1 homolog

NP_001245335.1

EC 4.1.1.6

XP_047286537.1

EC 4.1.1.6

XP_054230890.1

EC 4.1.1.6

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.