Gene Gene information from NCBI Gene database.
Entrez ID 55256
Gene name Acireductone dioxygenase 1
Gene symbol ADI1
Synonyms (NCBI Gene)
APL1ARDARD'Fe-ARDHMFT1638MTCBP1Ni-ARDSIPLmtnD
Chromosome 2
Chromosome location 2p25.3
Summary This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending o
miRNA miRNA information provided by mirtarbase database.
132
miRTarBase ID miRNA Experiments Reference
MIRT016389 hsa-miR-193b-3p Proteomics 21512034
MIRT029129 hsa-miR-26b-5p Microarray 19088304
MIRT723437 hsa-miR-6816-3p HITS-CLIP 19536157
MIRT302584 hsa-miR-142-5p HITS-CLIP 19536157
MIRT302608 hsa-miR-5590-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 14718544, 32296183
GO:0005634 Component Nucleus IDA 11602742, 14718544
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 11602742, 14718544
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613400 30576 ENSG00000182551
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BV57
Protein name Acireductone dioxygenase (Acireductone dioxygenase (Fe(2+)-requiring)) (ARD') (Fe-ARD) (EC 1.13.11.54) (Acireductone dioxygenase (Ni(2+)-requiring)) (ARD) (Ni-ARD) (EC 1.13.11.53) (Membrane-type 1 matrix metalloproteinase cytoplasmic tail-binding protein
Protein function Catalyzes 2 different reactions between oxygen and the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene) depending upon the metal bound in the active site (By similarity). Fe-containing acireductone dioxygenase (Fe-ARD) produces
PDB 4QGN , 7JXG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03079 ARD 3 157 Domain
Tissue specificity TISSUE SPECIFICITY: Detected in heart, colon, lung, stomach, brain, spleen, liver, skeletal muscle and kidney. {ECO:0000269|PubMed:11602742, ECO:0000269|PubMed:14718544}.
Sequence
Sequence length 179
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
Metabolic pathways
  Methionine salvage pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
PROSTATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis BEFREE 27160252
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27241313 Associate
★☆☆☆☆
Found in Text Mining only
Atrichia with Papular Lesions Atrichia with papular lesions Pubtator 17869066 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 36320054 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 25640948
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 25393378
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 30512100
★☆☆☆☆
Found in Text Mining only
Deep Vein Thrombosis Thrombosis BEFREE 29486040
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 15108120
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 36482994 Associate
★☆☆☆☆
Found in Text Mining only