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Aliases for ADI1 Gene

Aliases for ADI1 Gene

  • Acireductone Dioxygenase 1 2 3 5
  • Membrane-Type 1 Matrix Metalloproteinase Cytoplasmic Tail Binding Protein-1 2 3
  • Acireductone Dioxygenase (Fe(2+)-Requiring) 3 4
  • Submergence-Induced Protein-Like Factor 3 4
  • Fe-ARD 3 4
  • MTCBP1 3 4
  • ARD 3 4
  • Membrane-Type 1 Matrix Metalloproteinase Cytoplasmic Tail-Binding Protein 1 4
  • 1,2-Dihydroxy-3-Keto-5-Methylthiopentene Dioxygenase 3
  • Acireductone Dioxygenase (Ni(2+)-Requiring) 3
  • MT1-MMP Cytoplasmic Tail-Binding Protein-1 3
  • Submergence Induced Protein 2 3
  • EC 1.13.11.54 4
  • HMFT1638 3
  • MTCBP-1 4
  • Ni-ARD 3
  • Sip-L 4
  • APL1 3
  • SIPL 3
  • MtnD 3

External Ids for ADI1 Gene

Previous GeneCards Identifiers for ADI1 Gene

  • GC02M003480

Summaries for ADI1 Gene

Entrez Gene Summary for ADI1 Gene

  • 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]

GeneCards Summary for ADI1 Gene

ADI1 (Acireductone Dioxygenase 1) is a Protein Coding gene. Diseases associated with ADI1 include Hepatitis C Virus and Charcot-Marie-Tooth Disease, Type 2E. Among its related pathways are Metabolism and S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation. GO annotations related to this gene include oxidoreductase activity and acireductone dioxygenase [iron(II)-requiring] activity.

UniProtKB/Swiss-Prot for ADI1 Gene

  • Catalyzes the formation of formate and 2-keto-4-methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non-permissive cell line.

Gene Wiki entry for ADI1 Gene

Additional gene information for ADI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADI1 Gene

Genomics for ADI1 Gene

Regulatory Elements for ADI1 Gene

Enhancers for ADI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H003649 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -131.5 -131486 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF143 RUNX3 REST ENSG00000237370 COLEC11 ENSG00000255767 ADI1 ENSG00000235078 PIR40349 GC02P003653
GH02H003517 1.1 ENCODE 18 +0.7 733 2 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SP3 ADI1 ENSG00000242282 TRAPPC12 ENSG00000235078 GC02P003503
GH02H003461 1.3 Ensembl ENCODE dbSUPER 10.9 +57.6 57556 1 HDGF CTCF PKNOX1 MAX EBF1 CEBPG RAD21 SMC3 ZNF143 ATF7 ENSG00000235078 ADI1 COLEC11 ENSG00000237370 RPS7 TRAPPC12-AS1 TRAPPC12 GC02P003451 PIR36101
GH02H003522 1.1 Ensembl ENCODE 12.3 -3.7 -3710 1 HDAC1 FOXA2 DMAP1 DNMT3B TCF12 ZNF121 GATA2 RCOR1 NFIL3 CEBPA ADI1 TRAPPC12-AS1 ENSG00000242282
GH02H003492 1.4 Ensembl ENCODE dbSUPER 8.8 +26.1 26128 1 ELF3 PKNOX1 FOXA2 ATF1 ARID4B RAD21 DNMT3B RARA EGR1 FOS TRAPPC12-AS1 ADI1 ENSG00000271868
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADI1 on UCSC Golden Path with GeneCards custom track

Promoters for ADI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112101 636 2201 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 SP3 MXD4

Genomic Location for ADI1 Gene

Chromosome:
2
Start:
3,497,361 bp from pter
End:
3,519,736 bp from pter
Size:
22,376 bases
Orientation:
Minus strand

Genomic View for ADI1 Gene

Genes around ADI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADI1 Gene

Proteins for ADI1 Gene

  • Protein details for ADI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV57-MTND_HUMAN
    Recommended name:
    1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase
    Protein Accession:
    Q9BV57
    Secondary Accessions:
    • D6W4Y3
    • Q53HW3
    • Q53QD3
    • Q57YV7
    • Q68CK2
    • Q6ZSF7
    • Q7Z512
    • Q96P85
    • Q9NV57

    Protein attributes for ADI1 Gene

    Size:
    179 amino acids
    Molecular mass:
    21498 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • Monomer (By similarity). Interacts with MMP14.
    SequenceCaution:
    • Sequence=AAL25800.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD38646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD96187.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADI1 Gene

    Alternative splice isoforms for ADI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADI1 Gene

Post-translational modifications for ADI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ADI1 Gene

No data available for DME Specific Peptides for ADI1 Gene

Domains & Families for ADI1 Gene

Gene Families for ADI1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ADI1 Gene

Suggested Antigen Peptide Sequences for ADI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BV57

UniProtKB/Swiss-Prot:

MTND_HUMAN :
  • Belongs to the acireductone dioxygenase (ARD) family.
Family:
  • Belongs to the acireductone dioxygenase (ARD) family.
genes like me logo Genes that share domains with ADI1: view

Function for ADI1 Gene

Molecular function for ADI1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1,2-dihydroxy-5-(methylthio)pent-1-en-3-one + O(2) = 4-(methylthio)-2-oxobutanoate + formate.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of formate and 2-keto-4-methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non-permissive cell line.

Enzyme Numbers (IUBMB) for ADI1 Gene

Phenotypes From GWAS Catalog for ADI1 Gene

Gene Ontology (GO) - Molecular Function for ADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14718544
GO:0010309 acireductone dioxygenase [iron(II)-requiring] activity TAS --
GO:0016491 oxidoreductase activity IDA 15938715
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with ADI1: view
genes like me logo Genes that share phenotypes with ADI1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADI1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ADI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADI1 Gene

Localization for ADI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADI1 Gene

Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localizes to the plasma membrane when complexed to MMP14.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADI1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 2
golgi apparatus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11602742
GO:0005737 cytoplasm IDA,IEA 11602742
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IDA 14718544
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADI1: view

Pathways & Interactions for ADI1 Gene

genes like me logo Genes that share pathways with ADI1: view

UniProtKB/Swiss-Prot Q9BV57-MTND_HUMAN

  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 5/6.

Gene Ontology (GO) - Biological Process for ADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0009086 methionine biosynthetic process IEA --
GO:0019509 L-methionine biosynthetic process from methylthioadenosine TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ADI1: view

No data available for SIGNOR curated interactions for ADI1 Gene

Drugs & Compounds for ADI1 Gene

(6) Drugs for ADI1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma Target 0
Oxygen Approved, Vet_approved Pharma 0
Carbon monoxide Approved Pharma 130
Formic acid Experimental Pharma 0
Nickel Pharma 33

(6) Additional Compounds for ADI1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,2-Dihydroxy-3-keto-5-methylthiopentene
  • 1,2-Dihydroxy-3-keto-5-methylthiopentane
  • 1,2-Dihydroxy-3-keto-5-methylthiopentene anion
  • 1,2-Dihydroxy-5-(methylsulfanyl)pent-1-en-3-one
  • 1,2-Dihydroxy-5-(methylthio)pent-1-en-3-one
746507-19-7
2-Oxo-4-methylthiobutanoic acid
  • 2-Keto-4-methylthiobutyrate
  • 2-Keto-4-methylthiobutyric acid
  • 2-Ketomethiobutyrate
  • 2-Oxo-4-methylthiobutanoate
  • 2-Oxo-4-methylthiobutanoic acid
583-92-6
3-Methylthiopropionic acid
  • 3-(Methylsulfanyl)propanoate
  • 3-(Methylsulfanyl)propanoic acid
  • 3-(Methylthio)propionate
  • 3-(Methylthio)propionic acid
  • 3-Methylthiopropionate
646-01-5
genes like me logo Genes that share compounds with ADI1: view

Transcripts for ADI1 Gene

Unigene Clusters for ADI1 Gene

Acireductone dioxygenase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ADI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ADI1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - -
SP2:
SP3: - -
SP4:

Relevant External Links for ADI1 Gene

GeneLoc Exon Structure for
ADI1
ECgene alternative splicing isoforms for
ADI1

Expression for ADI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADI1 Gene

This gene is overexpressed in Liver (x5.5).

Protein differential expression in normal tissues from HIPED for ADI1 Gene

This gene is overexpressed in Liver, secretome (11.5) and Amniocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADI1 Gene



Protein tissue co-expression partners for ADI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADI1 Gene:

ADI1

SOURCE GeneReport for Unigene cluster for ADI1 Gene:

Hs.502773

mRNA Expression by UniProt/SwissProt for ADI1 Gene:

Q9BV57-MTND_HUMAN
Tissue specificity: Detected in heart, colon, lung, stomach, brain, spleen, liver, skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for ADI1 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Lung(2.8)
  • Heart(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with ADI1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADI1 Gene

Orthologs for ADI1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADI1 34 33
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 88 (a)
OneToMany
LOC100856577 33
  • 86.81 (n)
-- 34
  • 60 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adi1 33 16 34
  • 84.54 (n)
cow
(Bos Taurus)
Mammalia ADI1 33 34
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ADI1 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adi1 33
  • 83.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADI1 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADI1 33 34
  • 73 (n)
lizard
(Anolis carolinensis)
Reptilia ADI1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adi1 33
  • 74.12 (n)
zebrafish
(Danio rerio)
Actinopterygii adi1 33 34
  • 67.6 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005618 33
  • 59.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32068 33 34
  • 55.81 (n)
worm
(Caenorhabditis elegans)
Secernentea F42F12.4 34
  • 38 (a)
OneToMany
K07E1.1 34
  • 35 (a)
OneToMany
T01D1.4 34
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADI1 34 36
  • 43 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ARD1 33
  • 62.02 (n)
soybean
(Glycine max)
eudicotyledons Gma.4604 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6891 33
rice
(Oryza sativa)
Liliopsida Os03g0161800 33
  • 61.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5058 34
  • 51 (a)
OneToOne
Species where no ortholog for ADI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADI1 Gene

ENSEMBL:
Gene Tree for ADI1 (if available)
TreeFam:
Gene Tree for ADI1 (if available)

Paralogs for ADI1 Gene

Pseudogenes.org Pseudogenes for ADI1 Gene

genes like me logo Genes that share paralogs with ADI1: view

No data available for Paralogs for ADI1 Gene

Variants for ADI1 Gene

Sequence variations from dbSNP and Humsavar for ADI1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000066146 -- 3,506,512(+) ATCTA(A/C)AAGAA intron-variant
rs1000067355 -- 3,514,289(+) CACAG(G/T)TCCCT intron-variant
rs1000180619 -- 3,506,278(+) ATGGT(A/G)TCACT intron-variant
rs1000410082 -- 3,512,966(+) CATTC(C/G)TTGCA intron-variant
rs1000412964 -- 3,518,203(+) CCCTG(C/T)TTCGC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ADI1 Gene

Variant ID Type Subtype PubMed ID
dgv3702n100 CNV gain 25217958
esv275511 CNV gain+loss 21479260
esv3589661 CNV loss 21293372
nsv1003355 CNV gain 25217958
nsv1006526 CNV loss 25217958
nsv1011656 CNV gain 25217958
nsv1138742 CNV deletion 24896259

Variation tolerance for ADI1 Gene

Residual Variation Intolerance Score: 82.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADI1 Gene

Disorders for ADI1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ADI1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatitis c virus
  • hepatitis c virus, response to therapy of
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, type 2y
charcot-marie-tooth disease, type 1d
  • charcot-marie-tooth disease type 1d
charcot-marie-tooth disease, type 1c
  • charcot-marie-tooth disease type 1c
leber optic atrophy
  • leber hereditary optic neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search ADI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ADI1

Genetic Association Database (GAD)
ADI1
Human Genome Epidemiology (HuGE) Navigator
ADI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADI1
genes like me logo Genes that share disorders with ADI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADI1 Gene

Publications for ADI1 Gene

  1. Membrane-type 1 matrix metalloproteinase cytoplasmic tail-binding protein-1 is a new member of the Cupin superfamily. A possible multifunctional protein acting as an invasion suppressor down-regulated in tumors. (PMID: 14718544) Uekita T … Seiki M (The Journal of biological chemistry 2004) 2 3 4 22 60
  2. Membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1 (MTCBP-1) acts as an eukaryotic aci-reductone dioxygenase (ARD) in the methionine salvage pathway. (PMID: 15938715) Hirano W … Seiki M (Genes to cells : devoted to molecular & cellular mechanisms 2005) 2 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. 293 cells over-expressing human ADI1 and CD81 are permissive for serum-derived hepatitis C virus infection. (PMID: 19626614) Cheng JC … Yeh CT (Journal of medical virology 2009) 3 22 60
  5. Expression and function of the human androgen-responsive gene ADI1 in prostate cancer. (PMID: 17786183) Oram SW … Wang Z (Neoplasia (New York, N.Y.) 2007) 3 22 60

Products for ADI1 Gene

Sources for ADI1 Gene

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