• Gene id: 55256

Gene Summary

• Gene Symbol: ADI1   Gene   UCSC   Ensembl
• Aliases: APL1, ARD, Fe-ARD, HMFT1638, MTCBP1, Ni-ARD, SIPL, mtnD
• Gene name: acireductone dioxygenase 1
• Alternate names: 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase, MT1-MMP cytoplasmic tail-binding protein-1, acireductone dioxygenase (Fe(2+)-requiring), acireductone dioxygenase (Ni(2+)-requiring), membrane-type 1 matrix metalloproteinase cytoplasmic tail binding prote,
• Gene location: 2p25.3 (3519530: 3497365)     Exons: 5     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 613400

Protein Summary

• Protein general information: Q9BV57  
  • Name: 1,2 dihydroxy 3 keto 5 methylthiopentene dioxygenase (EC 1.13.11.54) (Acireductone dioxygenase (Fe(2+) requiring)) (ARD) (Fe ARD) (Membrane type 1 matrix metalloproteinase cytoplasmic tail binding protein 1) (MTCBP 1) (Submergence induced protein like fac
  • Length: 179  
  • Mass: 21498
  • Tissue specificity: Detected in heart, colon, lung, stomach, brain, spleen, liver, skeletal muscle and kidney. {ECO
• Sequence:

  MVQAWYMDDAPGDPRQPHRPDPGRPVGLEQLRRLGVLYWKLDADKYENDPELEKIRRERNYSWMDIITICKDKLP
  NYEEKIKMFYEEHLHLDDEIRYILDGSGYFDVRDKEDQWIRIFMEKGDMVTLPAGIYHRFTVDEKNYTKAMRLFV
  GEPVWTAYNRPADHFEARGQYVKFLAQTA

• Structural information:
  • Interpro: IPR004313  IPR027496  IPR014710  IPR011051  
  • PDB: 4QGN
  • PDBsum: 4QGN
  • STRING: ENSP00000333666
• Other Databases: GeneCards:  ADI1  Malacards:  ADI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010309	acireductone dioxygenase [iron(II)-requiring] activity	IBA	molecular function
GO:0006555	methionine metabolic process	IBA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0010309	acireductone dioxygenase [iron(II)-requiring] activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0009086	methionine biosynthetic process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0010309	acireductone dioxygenase [iron(II)-requiring] activity	IEA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005506	iron ion binding	IEA	molecular function
GO:0010309	acireductone dioxygenase [iron(II)-requiring] activity	IEA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0019509	L-methionine salvage from methylthioadenosine	IEA	biological process
GO:0019509	L-methionine salvage from methylthioadenosine	IDA	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00270	Cysteine and methionine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray