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

Gene ID: 221443, updated on 5-Mar-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
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Genomic context

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Location:
6p21.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41064772..41097787, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (40893329..40926344, complement)
105.20220307 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
  • 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. 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
  4. 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
  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 (22) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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-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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in peptidyl-glutamate ADP-deribosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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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