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OARD1 Gene

protein-coding   GIFtS: 41
GCID: GC06M041001

O-Acyl-ADP-Ribose Deacylase 1

(Previous name: chromosome 6 open reading frame 130)
(Previous symbol: C6orf130)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
O-Acyl-ADP-Ribose Deacylase 11 2     dJ34B21.32
C6orf1301 2 3 5     O-Acetyl-ADP-Ribose Deacetylase 12
Terminal ADP-Ribose Protein Glycohydrolase 11 2     O-Acetyl-ADP-Ribose Deacetylase C6orf1302
Chromosome 6 Open Reading Frame 1301     EC 3.5.1.-3
TARG12     

External Ids:    HGNC: 212571   Entrez Gene: 2214432   Ensembl: ENSG000001245967   OMIM: 6143935   UniProtKB: Q9Y5303   

Export aliases for OARD1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for OARD1 Gene:
OARD1 (O-acyl-ADP-ribose deacylase 1) is a protein-coding gene. Diseases associated with OARD1 include malaria. GO annotations related to this gene include purine nucleoside binding and deacetylase activity.

UniProtKB/Swiss-Prot: OARD1_HUMAN, Q9Y530
Function: Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated
lysine residues in histones and other proteins. 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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for OARD1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for OARD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OARD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

OARD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OARD1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M041001:  view genomic region     (about GC identifiers)

Start:
41,001,366 bp from pter      End:
41,065,526 bp from pter
Size:
64,161 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OARD1_HUMAN, Q9Y530 (See protein sequence)
Recommended Name: O-acetyl-ADP-ribose deacetylase 1  
Size: 152 amino acids; 17025 Da
6 PDB 3D structures from and Proteopedia for OARD1:
2EEE (3D)        2L8R (3D)        2LGR (3D)        4J5Q (3D)        4J5R (3D)        4J5S (3D)    
Secondary accessions: A6NEK4 A8K4H4 Q96F23

Explore the universe of human proteins at neXtProt for OARD1: NX_Q9Y530

Explore proteomics data for OARD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys104
  • Modification sites at PhosphoSitePlus

  • See OARD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_659500.1  
    ENSEMBL proteins: 
     ENSP00000420472   ENSP00000420484   ENSP00000420193   ENSP00000362247   ENSP00000416829  
     ENSP00000418400   ENSP00000418098   ENSP00000419875   ENSP00000420601   ENSP00000419175  
     ENSP00000420414   ENSP00000418966   ENSP00000417333   ENSP00000244558  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002589 Macro_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y530

    ProtoNet protein and cluster: Q9Y530

    1 Blocks protein domain: IPB002589 Protein of unknown function Appr-1

    UniProtKB/Swiss-Prot: OARD1_HUMAN, Q9Y530
    Similarity: Contains 1 Macro domain


    OARD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OARD1_HUMAN, Q9Y530
    Function: Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated
    lysine residues in histones and other proteins. 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
    Enzyme regulation: Subject to competitive inhibition by the product ADP-ribose
    Biophysicochemical properties: Kinetic parameters: KM=182 uM for O-acetyl-ADP-ribose;

         Enzyme Number (IUBMB): EC 3.5.1.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001883purine nucleoside binding IDA--
    GO:0005515protein binding IPI--
    GO:0019213deacetylase activity IDA--
         
    OARD1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OARD1
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    miRNA
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    miRTarBase miRNAs that target OARD1:
    hsa-mir-1 (MIRT024088), hsa-mir-24-3p (MIRT030559)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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      --

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OARD1
    Interactions:

        Search GeneGlobe Interaction Network for OARD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for OARD1 (Q9Y5301, 2 ENSP000004168294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP1P098741, 2EBI-8502288,EBI-355676 MINT-8433128 MINT-8433260 MINT-8433248 MINT-8433236 MINT-8433159 MINT-8433218
    PARP10Q53GL71, 2EBI-8502288,EBI-2857573 MINT-8433181 MINT-8433194 MINT-8433170
    DAZAP1ENSP000002330784STRING: ENSP00000233078
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042278purine nucleoside metabolic process IDA--

    OARD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OARD1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OARD1 gene: 
    NM_145063.2  

    Unigene Cluster for OARD1:

    O-acyl-ADP-ribose deacylase 1
    Hs.227457  [show with all ESTs]
    Unigene Representative Sequence: AK290939
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482853(uc010jxe.1) ENST00000479950(uc003opm.3 uc010jxg.3)
    ENST00000463088 ENST00000373154 ENST00000424266 ENST00000480585 ENST00000482515
    ENST00000464633 ENST00000468811 ENST00000486443 ENST00000488238 ENST00000465893(uc010jxh.1)
    ENST00000469104 ENST00000471367 ENST00000467234 ENST00000244558(uc003opn.3)

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat OARD1
      QuantiFast Probe-based Assays in human, mouse, rat OARD1

    Additional mRNA sequence: 

    AJ420538.1 AK290939.1 AK310688.1 AK313361.1 BC011709.2 BC021579.1 

    20 DOTS entries:

    DT.121305303  DT.413436  DT.100789940  DT.86668002  DT.121305266  DT.102833347  DT.407058  DT.100789934 
    DT.100016161  DT.65288096  DT.121305281  DT.121305225  DT.121305256  DT.92441094  DT.95155629  DT.97781424 
    DT.100702073  DT.105206  DT.121305296  DT.40189711 

    Selected AceView cDNA sequences (see all 254):

    BU077422 NM_145063 CR620893 CD300710 BU782807 BU787449 BX356975 BQ272531 
    BQ058810 BQ477347 BM857495 BM511653 BU069951 BX097450 BQ582221 BQ675882 
    BQ270578 BM313690 CK820405 AI767030 CK825422 BQ549591 AI001071 BQ130123 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OARD1 (see all 11)    About this scheme

    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:                                            -     -     -     -           -     -                                                         


    ECgene alternative splicing isoforms for OARD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OARD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    OARD1 Expression
    About this image

    OARD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OARD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.227457
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for OARD1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oard11 , 5 expressed sequence AI3149765
    O-acyl-ADP-ribose deacylase 11
    91.23(n)1
    95.39(a)1
      17 (23.99 cM)5
    1068211  NM_207219.31  NP_997102.21 
     484100805 
    chicken
    (Gallus gallus)
    Aves C26H6ORF1301 chromosome 26 open reading frame, human C6orf130 74.22(n)
    78.67(a)
      419916  NM_001030921.1  NP_001026092.1 
    lizard
    (Anolis carolinensis)
    Reptilia OARD16
    O-acyl-ADP-ribose deacylase 1
    70(a)
    1 ↔ 1
    4(123366717-123378415)
    zebrafish
    (Danio rerio)
    Actinopterygii oard11 O-acyl-ADP-ribose deacylase 1 61.97(n)
    64.08(a)
      553793  NM_001020755.1  NP_001018591.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG330541 CG33054 56.83(n)
    55.4(a)
      40340  NM_176376.2  NP_788554.1 


    ENSEMBL Gene Tree for OARD1 (if available)
    TreeFam Gene Tree for OARD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OARD1 gene
    1 SIMAP similar gene for OARD1 using alignment to 7 protein entries:     OARD1_HUMAN (see all proteins):
    C6orf130

    OARD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OARD1 (see all 95)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011072911,2
    --41034043(+) ATTTC-/TTTTTT 1 -- int10--------
    rs767383251,2
    C,F--41034079(+) TGTTAA/CCCAGG 1 -- int11Minor allele frequency- C:0.01NA 120
    rs1491233921,2
    --41034230(+) ATTTAC/TTGGGT 1 -- int10--------
    rs1828103191,2
    --41034249(+) TGTGCC/TAAGTA 1 -- int10--------
    rs1431917011,2
    --41034343(+) GACAAA/GAGAGA 1 -- int10--------
    rs1872752731,2
    --41034420(+) TCTCAC/GTTTGC 1 -- int10--------
    rs115565861,2
    --41034442(-) AAGGGA/TCCAAG 1 -- int10--------
    rs1401173911,2
    --41034456(+) CTGACC/TGTTTG 1 -- int10--------
    rs1469222581,2
    --41034484(+) AACCCG/TCCATT 1 -- int10--------
    rs10600421,2
    A--41034591(-) AAATTC/TTACAT 1 -- ut312Minor allele frequency- T:0.00MN NA 186

    HapMap Linkage Disequilibrium report for OARD1 (41001366 - 41065526 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for OARD1: --
    Human Gene Mutation Database (HGMD): OARD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OARD1
    DNA2.0 Custom Variant and Variant Library Synthesis for OARD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614393    OMIM disorders: --

    1 disease for OARD1:    
    About MalaCards
    malaria


    OARD1 for disorders           About GeneDecksing


    Export disorders for OARD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OARD1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with OARD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Orphan macrodomain (human C6ORF130) is an o-acyl-ADP-ribose deacylase: solution structure and catalytic properties. (PubMed id 21849506)1, 2, 3 Peterson F.C....Volkman B.F. (J. Biol. Chem. 2011)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    4. Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. (PubMed id 23481255)1 Sharifi R....Ahel I. (EMBO J. 2013)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    7. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 221443 HGNC: 21257 AceView: C6orf130 Ensembl:ENSG00000124596 euGenes: HUgn221443
    ECgene: OARD1 H-InvDB: OARD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for OARD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OARD1 gene:
    Search GeneIP for patents involving OARD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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