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    OARD1 O-acyl-ADP-ribose deacylase 1 [ Homo sapiens (human) ]

    Gene ID: 221443, updated on 28-Oct-2024

    Summary

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    Official Symbol
    OARD1provided by HGNC
    Official Full Name
    O-acyl-ADP-ribose deacylase 1provided by HGNC
    Primary source
    HGNC:HGNC:21257
    See related
    Ensembl:ENSG00000124596 MIM:614393; AllianceGenome:HGNC:21257
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TARG1; C6orf130; dJ34B21.3
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 36.5), thyroid (RPKM 20.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OARD1 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41064772..41097787, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (40893329..40926344, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41032511..41065526, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17171 Neighboring gene unc-5 family C-terminal like Neighboring gene translocator protein 2 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17173 Neighboring gene nuclear transcription factor Y subunit alpha Neighboring gene MPRA-validated peak5800 silencer Neighboring gene ADCY10 pseudogene 1 Neighboring gene triggering receptor expressed on myeloid cells like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TARG1 protects against toxic DNA ADP-ribosylation. Tromans-Coia C, et al. Nucleic Acids Res, 2021 Oct 11. PMID 34508355, Free PMC Article
    2. Orphan macrodomain protein (human C6orf130) is an O-acyl-ADP-ribose deacylase: solution structure and catalytic properties. Peterson FC, et al. J Biol Chem, 2011 Oct 14. PMID 21849506, Free PMC Article
    3. Nucleolar-nucleoplasmic shuttling of TARG1 and its control by DNA damage-induced poly-ADP-ribosylation and by nucleolar transcription. Bütepage M, et al. Sci Rep, 2018 Apr 30. PMID 29712969, Free PMC Article
    4. Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome. Žaja R, et al. Sci Rep, 2020 May 19. PMID 32427867, Free PMC Article
    5. Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. Sharifi R, et al. EMBO J, 2013 May 2. PMID 23481255, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TARG1 protects against toxic DNA ADP-ribosylation.
      Title: TARG1 protects against toxic DNA ADP-ribosylation.
    2. Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.
      Title: Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.
    3. Studies indicate that poly (ADP-ribose) glycohydrolase (PARG) and terminal ADP-ribose glycohydrolase 1 (TARG1) are key enzymes in poly(ADP-ribose) polymerases (PARPs)-mediated ADP-ribosylation.
      Title: Structures and Mechanisms of Enzymes Employed in the Synthesis and Degradation of PARP-Dependent Protein ADP-Ribosylation.
    4. C6orf130 enzymatic activity has a role in the turnover and recycling of protein ADP-ribosylation in neurodegenerative disease.
      Title: Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease.
    5. Orphan macrodomain protein (human C6orf130) is an O-acyl-ADP-ribose deacylase: solution structure and catalytic properties.
      Title: Orphan macrodomain protein (human C6orf130) is an O-acyl-ADP-ribose deacylase: solution structure and catalytic properties.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: UNC5CL

    Homology

    Clone Names

    • FLJ17636, MGC19570

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP-ribosyl-[dinitrogen reductase] hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ADP-ribosylglutamate hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables O-acetyl-ADP-ribose deacetylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables purine nucleoside binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peptidyl-glutamate ADP-deribosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein de-ADP-ribosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in purine nucleoside metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in purine nucleoside metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ADP-ribose glycohydrolase OARD1
    Names
    O-acetyl-ADP-ribose deacetylase 1
    O-acetyl-ADP-ribose deacetylase C6orf130
    [Protein ADP-ribosylglutamate] hydrolase OARD1
    terminal ADP-ribose protein glycohydrolase 1
    NP_001316613.1
    NP_001316614.1
    NP_001316615.1
    NP_001316617.1
    NP_001316618.1
    NP_001316619.1
    NP_001316620.1
    NP_001316621.1
    NP_001316622.1
    NP_001316623.1
    NP_001316624.1
    NP_001316625.1
    NP_659500.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001329684.2 → NP_001316613.1  ADP-ribose glycohydrolase OARD1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS34445.1
      UniProtKB/Swiss-Prot
      A6NEK4, A8K4H4, Q96F23, Q9Y530
      UniProtKB/TrEMBL
      C9JNE2
      Related
      ENSP00000420414.1, ENST00000488238.5
      Conserved Domains (1) summary
      cd02901
      Location:13 → 143
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    2. NM_001329685.1 → NP_001316614.1  ADP-ribose glycohydrolase OARD1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), along with variants 1, 3, 4, and 5, encodes isoform a.
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS34445.1
      UniProtKB/Swiss-Prot
      A6NEK4, A8K4H4, Q96F23, Q9Y530
      UniProtKB/TrEMBL
      C9JNE2
      Related
      ENSP00000420193.1, ENST00000463088.5
      Conserved Domains (1) summary
      cd02901
      Location:13 → 143
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    3. NM_001329686.2 → NP_001316615.1  ADP-ribose glycohydrolase OARD1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), along with variants 1, 2, 4, and 5, encodes isoform a.
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS34445.1
      UniProtKB/Swiss-Prot
      A6NEK4, A8K4H4, Q96F23, Q9Y530
      UniProtKB/TrEMBL
      C9JNE2
      Related
      ENSP00000416829.2, ENST00000424266.7
      Conserved Domains (1) summary
      cd02901
      Location:13 → 143
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    4. NM_001329688.2 → NP_001316617.1  ADP-ribose glycohydrolase OARD1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), along with variants 1-4, encodes isoform a.
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS34445.1
      UniProtKB/Swiss-Prot
      A6NEK4, A8K4H4, Q96F23, Q9Y530
      UniProtKB/TrEMBL
      C9JNE2
      Related
      ENSP00000420601.1, ENST00000468811.5
      Conserved Domains (1) summary
      cd02901
      Location:13 → 143
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    5. NM_001329689.2 → NP_001316618.1  ADP-ribose glycohydrolase OARD1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL031778, BC021579, CX758168
      Consensus CDS
      CCDS87395.1
      UniProtKB/TrEMBL
      C9JXC3
      Related
      ENSP00000419175.1, ENST00000486443.5
      Conserved Domains (1) summary
      cd02901
      Location:1 → 101
      Macro_Poa1p_like; Macro domain, Poa1p_like family. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose ...

    6. NM_001329690.2 → NP_001316619.1  ADP-ribose glycohydrolase OARD1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), along with variants 8-10, encodes isoform c.
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS87397.1
      UniProtKB/TrEMBL
      C9J5P1
      Related
      ENSP00000418400.1, ENST00000480585.5
      Conserved Domains (1) summary
      cd02901
      Location:13 → 81
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    7. NM_001329691.2 → NP_001316620.1  ADP-ribose glycohydrolase OARD1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), along with variants 7, 9, and 10, encodes isoform c.
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS87397.1
      UniProtKB/TrEMBL
      C9J5P1
      Conserved Domains (1) summary
      cd02901
      Location:13 → 81
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    8. NM_001329692.1 → NP_001316621.1  ADP-ribose glycohydrolase OARD1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), along with variants 7, 8, and 10, encodes isoform c.
      Source sequence(s)
      AL031778, BC021579, DT215423
      Consensus CDS
      CCDS87397.1
      UniProtKB/TrEMBL
      C9J5P1
      Related
      ENSP00000362247.2, ENST00000373154.6
      Conserved Domains (1) summary
      cd02901
      Location:13 → 81
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    9. NM_001329693.2 → NP_001316622.1  ADP-ribose glycohydrolase OARD1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), along with variants 7-9, encodes isoform c.
      Source sequence(s)
      AL031778, BC021579, BM353928, DT215423
      Consensus CDS
      CCDS87397.1
      UniProtKB/TrEMBL
      C9J5P1
      Related
      ENSP00000487484.1, ENST00000628419.2
      Conserved Domains (1) summary
      cd02901
      Location:13 → 81
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    10. NM_001329694.2 → NP_001316623.1  ADP-ribose glycohydrolase OARD1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), along with variants 12 and 13, encodes isoform d.
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS87396.1
      UniProtKB/TrEMBL
      C9JA90
      Related
      ENSP00000418098.1, ENST00000482515.5
      Conserved Domains (1) summary
      cl00019
      Location:13 → 61
      Macro_SF; macrodomain superfamily

    11. NM_001329695.1 → NP_001316624.1  ADP-ribose glycohydrolase OARD1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), along with variants 11 and 13, encodes isoform d.
      Source sequence(s)
      AL031778, BC021579, BE267691, DT215423
      Consensus CDS
      CCDS87396.1
      UniProtKB/TrEMBL
      C9JA90
      Related
      ENSP00000419875.1, ENST00000464633.5
      Conserved Domains (1) summary
      cl00019
      Location:13 → 61
      Macro_SF; macrodomain superfamily

    12. NM_001329696.2 → NP_001316625.1  ADP-ribose glycohydrolase OARD1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), along with variants 11 and 12, encodes isoform d.
      Source sequence(s)
      AL031778
      Consensus CDS
      CCDS87396.1
      UniProtKB/TrEMBL
      C9JA90
      Conserved Domains (1) summary
      cl00019
      Location:13 → 61
      Macro_SF; macrodomain superfamily

    13. NM_145063.4 → NP_659500.1  ADP-ribose glycohydrolase OARD1 isoform a

      See identical proteins and their annotated locations for NP_659500.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), along with variants 1, 2, 3, and 5, encodes isoform a.
      Source sequence(s)
      AL031778, BC011709, BC021579
      Consensus CDS
      CCDS34445.1
      UniProtKB/Swiss-Prot
      A6NEK4, A8K4H4, Q96F23, Q9Y530
      UniProtKB/TrEMBL
      C9JNE2
      Related
      ENSP00000420484.1, ENST00000479950.5
      Conserved Domains (1) summary
      cd02901
      Location:13 → 143
      Macro_Poa1p-like; macrodomain, Poa1p-like family

    RNA

    1. NR_138080.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BU740294

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      41064772..41097787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      40893329..40926344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y530.2 GenPept UniProtKB/Swiss-Prot:Q9Y530

    Gene LinkOut

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