ACOD1 (aconitate decarboxylase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 730249
Gene name Aconitate decarboxylase 1
Gene symbol ACOD1
Synonyms (NCBI Gene)
CADIRG1
Chromosome 13
Chromosome location 13q22.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002760 Process Positive regulation of antimicrobial humoral response IBA
GO:0002760 Process Positive regulation of antimicrobial humoral response IDA 23610393
GO:0002760 Process Positive regulation of antimicrobial humoral response IEA
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615275 33904 ENSG00000102794
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NK06
Protein name Cis-aconitate decarboxylase (CAD) (EC 4.1.1.6) (Aconitate decarboxylase) (Aconitate decarboxylase 1) (Cis-aconitic acid decarboxylase) (Immune-responsive gene 1 protein)
Protein function Cis-aconitate decarboxylase that catalyzes production of itaconate and is involved in the inhibition of the inflammatory response (PubMed:23609450, PubMed:23610393, PubMed:31548418, PubMed:35662396). Acts as a negative regulator of the Toll-like
PDB 6R6U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03972 MmgE_PrpD 7 → 449 MmgE/PrpD family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in LPS-tolerized macrophages (at protein level). Expressed in peripheral blood mononuclear cells (PBMCs), microglia and macrophage cells. {ECO:0000269|PubMed:23609450, ECO:0000269|PubMed:23610393}.
Sequence
Sequence length 481
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Metabolic pathways  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (181)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 28353317, 29306454, 30041804, 31081301, 31821324
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia CTD_human_DG 38827
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 12899712
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 17520682
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 28005991 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 30368884
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 29396846
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 29396846, 36283272 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only