Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OARD1 Gene

Aliases for OARD1 Gene

  • O-Acyl-ADP-Ribose Deacylase 1 2 3 5
  • Terminal ADP-Ribose Protein Glycohydrolase 1 2 3 4
  • [Protein ADP-Ribosylglutamate] Hydrolase OARD1 3 4
  • O-Acetyl-ADP-Ribose Deacetylase 1 3 4
  • ADP-Ribose Glycohydrolase OARD1 3 4
  • C6orf130 3 4
  • TARG1 3 4
  • O-Acetyl-ADP-Ribose Deacetylase C6orf130 3
  • Chromosome 6 Open Reading Frame 130 2
  • EC 3.5.1.- 4
  • EC 3.2.2.- 4
  • DJ34B21.3 3

External Ids for OARD1 Gene

Previous HGNC Symbols for OARD1 Gene

  • C6orf130

Summaries for OARD1 Gene

Entrez Gene Summary for OARD1 Gene

  • The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]

GeneCards Summary for OARD1 Gene

OARD1 (O-Acyl-ADP-Ribose Deacylase 1) is a Protein Coding gene. Diseases associated with OARD1 include Arts Syndrome. Gene Ontology (GO) annotations related to this gene include deacetylase activity and purine nucleoside binding.

UniProtKB/Swiss-Prot for OARD1 Gene

  • ADP-ribose glycohydrolase that hydrolyzes ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on glutamate and O-acetyl-ADP-D-ribose (PubMed:23481255, PubMed:23474714, PubMed:21849506). Specifically acts as a glutamate mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to glutamate residues on proteins (PubMed:23481255, PubMed:23474714). Does not act on poly-ADP-ribosylated proteins: the poly-ADP-ribose chain of poly-ADP-ribosylated glutamate residues must by hydrolyzed into mono-ADP-ribosylated glutamate by PARG to become a substrate for OARD1 (PubMed:23481255). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21849506). Catalyzes the deacylation of O-acetyl-ADP-ribose, O-propionyl-ADP-ribose and O-butyryl-ADP-ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively (PubMed:21849506).

Additional gene information for OARD1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OARD1 Gene

Genomics for OARD1 Gene

GeneHancer (GH) Regulatory Elements for OARD1 Gene

Promoters and enhancers for OARD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J041070 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.3 +24.2 24221 5.9 HDGF SP1 ZFX CC2D1A ELF3 SIX5 ZNF148 NKRF POLR2A MLLT1 NFYA OARD1 ADCY10P1 USP49 TSPO2 UNC5CL TAF8 APOBEC2
GH06J041097 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 600.7 -0.2 -214 1.6 NFIC JUN OARD1 GC06P044061 PIR45100 NFYA
GH06J041455 Enhancer 1.4 Ensembl ENCODE dbSUPER 12 -358.7 -358734 2.6 ZNF652 CTCF ELF3 RERE ZSCAN21 ZNF24 MYC TFE3 HNF1A PPARG MED20 TAF8 OARD1 FOXP4 FOXP4-AS1 NFYA ENSG00000124593 GC06P043314 GC06M041477
GH06J041766 Enhancer 1 ENCODE 12 -670.3 -670313 3.3 ZFX ELF3 CBFA2T2 CEBPG ZSCAN21 SP7 KLF14 ZNF644 MZF1 SMARCA4 MED20 OARD1 C6orf132 MDFI USP49 PGC ENSG00000124593 PIR31477 ENSG00000269387
GH06J040974 Enhancer 0.5 Ensembl 11.2 +120.7 120686 4.6 CREB1 ATF2 ZNF433 ZNF558 OARD1 UNC5CL TSPO2 ADCY10P1 APOBEC2 TREML5P LOC101929555 GC06P044929
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OARD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for OARD1 Gene

Genomic Locations for OARD1 Gene
chr6:41,033,627-41,097,787
(GRCh38/hg38)
Size:
64,161 bases
Orientation:
Minus strand
chr6:41,001,366-41,065,526
(GRCh37/hg19)
Size:
64,161 bases
Orientation:
Minus strand

Genomic View for OARD1 Gene

Genes around OARD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OARD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OARD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OARD1 Gene

Proteins for OARD1 Gene

  • Protein details for OARD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y530-OARD1_HUMAN
    Recommended name:
    ADP-ribose glycohydrolase OARD1
    Protein Accession:
    Q9Y530
    Secondary Accessions:
    • A6NEK4
    • A8K4H4
    • Q96F23

    Protein attributes for OARD1 Gene

    Size:
    152 amino acids
    Molecular mass:
    17025 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OARD1 Gene

neXtProt entry for OARD1 Gene

Post-translational modifications for OARD1 Gene

  • Ubiquitination at posLast=104104
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OARD1 Gene

Domains & Families for OARD1 Gene

Gene Families for OARD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for OARD1 Gene

Suggested Antigen Peptide Sequences for OARD1 Gene

GenScript: Design optimal peptide antigens:
  • C6orf130 protein (Q05CR9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with OARD1: view

No data available for UniProtKB/Swiss-Prot for OARD1 Gene

Function for OARD1 Gene

Molecular function for OARD1 Gene

UniProtKB/Swiss-Prot Function:
ADP-ribose glycohydrolase that hydrolyzes ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on glutamate and O-acetyl-ADP-D-ribose (PubMed:23481255, PubMed:23474714, PubMed:21849506). Specifically acts as a glutamate mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to glutamate residues on proteins (PubMed:23481255, PubMed:23474714). Does not act on poly-ADP-ribosylated proteins: the poly-ADP-ribose chain of poly-ADP-ribosylated glutamate residues must by hydrolyzed into mono-ADP-ribosylated glutamate by PARG to become a substrate for OARD1 (PubMed:23481255). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21849506). Catalyzes the deacylation of O-acetyl-ADP-ribose, O-propionyl-ADP-ribose and O-butyryl-ADP-ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively (PubMed:21849506).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2''-O-acetyl-ADP-D-ribose + H2O = acetate + ADP-D-ribose + H(+); Xref=Rhea:RHEA:57060, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:57967, ChEBI:CHEBI:83767; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:57061; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-O-(ADP-D-ribosyl)-L-glutamyl-[protein] + H2O = ADP-D-ribose + H(+) + L-glutamyl-[protein]; Xref=Rhea:RHEA:58248, Rhea:RHEA-COMP:10208, Rhea:RHEA-COMP:15089, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29973, ChEBI:CHEBI:57967, ChEBI:CHEBI:142540; Evidence={ECO:0000269 PubMed:23474714, ECO:0000269 PubMed:23481255}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:58249; Evidence={ECO:0000269 PubMed:23474714, ECO:0000269 PubMed:23481255};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to competitive inhibition by the product ADP-ribose.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=182 uM for O-acetyl-ADP-ribose {ECO:0000269 PubMed:21849506};

Enzyme Numbers (IUBMB) for OARD1 Gene

Phenotypes From GWAS Catalog for OARD1 Gene

Gene Ontology (GO) - Molecular Function for OARD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001883 purine nucleoside binding IDA 21849506
GO:0005515 protein binding IPI 23481255
GO:0016787 hydrolase activity IEA --
GO:0061463 O-acetyl-ADP-ribose deacetylase activity IDA 21849506
genes like me logo Genes that share ontologies with OARD1: view
genes like me logo Genes that share phenotypes with OARD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OARD1

Clone Products

  • Applied Biological Materials (abm): Clones for OARD1 - Now 50% OFF >
  • * OARD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * OARD1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OARD1 Gene

Localization for OARD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OARD1 Gene

Nucleus, nucleoplasm. Nucleus, nucleolus. Chromosome. Note=Localizes both in the nucleoplasm and in the nucleolus (PubMed:29712969). Relocalizes to the nucleoplasm in response to DNA damage (PubMed:29712969). Recruited to DNA lesion regions following DNA damage (PubMed:23481255). {ECO:0000269 PubMed:23481255, ECO:0000269 PubMed:29712969}.

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 OARD1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OARD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA,IDA 29712969
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IDA,IEA 29712969
GO:0090734 site of DNA damage IDA 23481255
genes like me logo Genes that share ontologies with OARD1: view

Pathways & Interactions for OARD1 Gene

PathCards logo

SuperPathways for OARD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OARD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IMP 23481255
GO:0042278 purine nucleoside metabolic process IDA 21849506
GO:0051725 protein de-ADP-ribosylation IDA 23474714
genes like me logo Genes that share ontologies with OARD1: view

No data available for Pathways by source and SIGNOR curated interactions for OARD1 Gene

Drugs & Compounds for OARD1 Gene

No Compound Related Data Available

Transcripts for OARD1 Gene

Unigene Clusters for OARD1 Gene

O-acyl-ADP-ribose deacylase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OARD1

Clone Products

  • Applied Biological Materials (abm): Clones for OARD1 - Now 50% OFF >
  • * OARD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * OARD1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for OARD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - -
SP9: - - -
SP10: - -
SP11: - -

Relevant External Links for OARD1 Gene

GeneLoc Exon Structure for
OARD1
ECgene alternative splicing isoforms for
OARD1

Expression for OARD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OARD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OARD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OARD1 Gene



Protein tissue co-expression partners for OARD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OARD1 Gene:

OARD1

SOURCE GeneReport for Unigene cluster for OARD1 Gene:

Hs.227457

mRNA Expression by UniProt/SwissProt for OARD1 Gene:

Q9Y530-OARD1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for OARD1 Gene

  • Lung(4.3)
  • Pancreas(3.7)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with OARD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OARD1 Gene

Orthologs for OARD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OARD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OARD1 35
  • 100 (a)
OneToOne
C6H6orf130 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia OARD1 35
  • 97 (a)
OneToOne
C12H6orf130 34
  • 94.08 (n)
cow
(Bos Taurus)
Mammalia OARD1 35 34
  • 91.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Oard1 17 35 34
  • 91.23 (n)
oppossum
(Monodelphis domestica)
Mammalia OARD1 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OARD1 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves C26H6ORF130 35 34
  • 74.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OARD1 35
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii oard1 35 34
  • 61.97 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1173 34
fruit fly
(Drosophila melanogaster)
Insecta CG33054 35 34
  • 56.83 (n)
OneToMany
CG34261 35
  • 47 (a)
OneToMany
CG33056 35
  • 19 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002604 34
  • 56.14 (n)
Species where no ortholog for OARD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OARD1 Gene

ENSEMBL:
Gene Tree for OARD1 (if available)
TreeFam:
Gene Tree for OARD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OARD1: view image

Paralogs for OARD1 Gene

(1) SIMAP similar genes for OARD1 Gene using alignment to 7 proteins:

  • OARD1_HUMAN
  • C9IZY1_HUMAN
  • C9J5P1_HUMAN
  • C9JA90_HUMAN
  • C9JNE2_HUMAN
  • C9JXC3_HUMAN
  • H7C5Q1_HUMAN
genes like me logo Genes that share paralogs with OARD1: view

No data available for Paralogs for OARD1 Gene

Variants for OARD1 Gene

Sequence variations from dbSNP and Humsavar for OARD1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000074411 -- 41,089,112(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000128522 -- 41,096,700(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000201091 -- 41,094,838(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000225000 -- 41,086,060(-) A/C/G genic_upstream_transcript_variant, intron_variant
rs1000247557 -- 41,093,467(-) CTTTCTTT/CTTT genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OARD1 Gene

Variant ID Type Subtype PubMed ID
nsv602970 CNV gain 21841781

Variation tolerance for OARD1 Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OARD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OARD1
Human Gene Mutation Database (HGMD)
OARD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OARD1 Gene

Disorders for OARD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OARD1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
arts syndrome
  • arts
- elite association - COSMIC cancer census association via MalaCards
Search OARD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OARD1_HUMAN
  • Note=Defects in OARD1 are found in patients with severe neurodegeneration (PubMed:23481255). Defects were found in an extended consanguineous family with several affected cases in two generations (PubMed:23481255). {ECO:0000269 PubMed:23481255}.

Additional Disease Information for OARD1

genes like me logo Genes that share disorders with OARD1: view

No data available for Genatlas for OARD1 Gene

Publications for OARD1 Gene

  1. Orphan macrodomain protein (human C6orf130) is an O-acyl-ADP-ribose deacylase: solution structure and catalytic properties. (PMID: 21849506) Peterson FC … Volkman BF (The Journal of biological chemistry 2011) 2 3 4 58
  2. Nucleolar-nucleoplasmic shuttling of TARG1 and its control by DNA damage-induced poly-ADP-ribosylation and by nucleolar transcription. (PMID: 29712969) Bütepage M … Lüscher B (Scientific reports 2018) 3 4 58
  3. Macrodomain-containing proteins are new mono-ADP-ribosylhydrolases. (PMID: 23474714) Rosenthal F … Hottiger MO (Nature structural & molecular biology 2013) 3 4 58
  4. Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. (PMID: 23481255) Sharifi R … Ahel I (The EMBO journal 2013) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for OARD1 Gene

Sources for OARD1 Gene

Content
Loading form....