Endometriosis Knowledgebase

Search Result

Gene id

55256

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (3519578: 3497918) 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 on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

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: 21,498

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
Pfam:	PF03079
PDB:	4QGN
PDBsum:	4QGN
STRING:	ENSP00000333666;

Other Databases

GeneCards: ADI1; Malacards: ADI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005506	iron ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0010309	acireductone dioxygenase [iron(II)-requiring] acti vity	TAS	molecular_function
GO:0016491	oxidoreductase activity	IDA	molecular_function
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	IEA	biological_process
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	IDA	biological_process
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	TAS	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0005506	iron ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0008652	cellular amino acid biosy nthetic process	IEA	biological_process
GO:0009086	methionine biosynthetic p rocess	IEA	biological_process
GO:0010309	acireductone dioxygenase [iron(II)-requiring] acti vity	IEA	molecular_function
GO:0010309	acireductone dioxygenase [iron(II)-requiring] acti vity	IEA	molecular_function
GO:0010309	acireductone dioxygenase [iron(II)-requiring] acti vity	IEA	molecular_function
GO:0010309	acireductone dioxygenase [iron(II)-requiring] acti vity	TAS	molecular_function
GO:0016020	membrane	IEA	cellular_component
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016491	oxidoreductase activity	IDA	molecular_function
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	IEA	biological_process
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	IEA	biological_process
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	IEA	biological_process
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	IDA	biological_process
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	TAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051213	dioxygenase activity	IEA	molecular_function
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0010309	acireductone dioxygenase [iron(II)-requiring] acti vity	TAS	molecular_function
GO:0016491	oxidoreductase activity	IDA	molecular_function
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	IDA	biological_process
GO:0019509	L-methionine biosynthetic process from methylthioa denosine	TAS	biological_process

KEGG pathways

hsa01100 Metabolic pathways
hsa00270 Cysteine and methionine metabolism

Diseases

Associated diseases	References
Endometriosis	PMID: 16249290
Endometriosis	INFBASE16249290

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16249290	Endometrio sis			30 (15 patients undergoing lap aroscopy or hys terectomy for e ndometriosis, 1 5 controls)		IGFBP5 PIM2 RPL41 PSAP FBLN1 SIPL DLX5 HSD11B2 SET and RHOE	Show abstract