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ADPRS ADP-ribosylserine hydrolase [ Homo sapiens (human) ]

Gene ID: 54936, updated on 27-Nov-2024

Summary

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Official Symbol
ADPRSprovided by HGNC
Official Full Name
ADP-ribosylserine hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:21304
See related
Ensembl:ENSG00000116863 MIM:610624; AllianceGenome:HGNC:21304
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
ARH3; ADPRHL2; CONDSIAS
Summary
This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in testis (RPKM 14.2), lung (RPKM 13.1) and 25 other tissues See more
Orthologs
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Genomic context

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See ADPRS in Genome Data Viewer
Location:
1p34.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36088892..36093932)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35951768..35956812)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36554493..36559533)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene magnesium transporter 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36550265-36551063 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36553996-36554581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36554582-36555166 Neighboring gene tektin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36563075-36563583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 654 Neighboring gene collagen type VIII alpha 2 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36579590-36580530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36580531-36581471 Neighboring gene MPRA-validated peak176 silencer Neighboring gene trafficking protein particle complex subunit 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36614757-36615417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 655

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. Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Öz Yıldız S, et al. Neuropediatrics, 2024 Jun. PMID 38365196
  2. Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of human ARH3, the first eukaryotic protein-ADP-ribosylhydrolase. Kernstock S, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2006 Mar 1. PMID 16511307, Free PMC Article
  3. Functional localization of two poly(ADP-ribose)-degrading enzymes to the mitochondrial matrix. Niere M, et al. Mol Cell Biol, 2008 Jan. PMID 17991898, Free PMC Article
  4. Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response. Beijer D, et al. Life Sci Alliance, 2021 Nov. PMID 34479984, Free PMC Article
  5. Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair. Hanzlikova H, et al. Nat Commun, 2020 Jul 7. PMID 32636369, Free PMC Article

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.
    Title: Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.
  2. The regulatory landscape of the human HPF1- and ARH3-dependent ADP-ribosylome.
    Title: The regulatory landscape of the human HPF1- and ARH3-dependent ADP-ribosylome.
  3. Structural and biochemical analysis of human ADP-ribosyl-acceptor hydrolase 3 reveals the basis of metal selectivity and different roles for the two magnesium ions.
    Title: Structural and biochemical analysis of human ADP-ribosyl-acceptor hydrolase 3 reveals the basis of metal selectivity and different roles for the two magnesium ions.
  4. Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease.
    Title: Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease.
  5. AI26 inhibits the ADP-ribosylhydrolase ARH3 and suppresses DNA damage repair.
    Title: AI26 inhibits the ADP-ribosylhydrolase ARH3 and suppresses DNA damage repair.
  6. Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.
    Title: Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.
  7. Study identified a family with an ARH3 gene mutation that resulted in a truncated, inactive protein. The 8-year-old proband exhibited a progressive neurodegeneration phenotype. Parthanatos was observed in neurons of the patient's deceased sibling, and an older sibling exhibited a mild behavioral phenotype. Patient's fibroblasts were more sensitive to H2O2 stress-induced poly(ADP-ribose) accumulation and cell death.
    Title: PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.
  8. Here, the authors show that serine ADP-ribosylation represents the major fraction of ADP-ribosylation synthesized after DNA damage in mammalian cells and that globally serine ADP-ribosylation is dependent on HPF1, PARP1 and ARH3. In the absence of HPF1, glutamate/aspartate becomes the main target residues for ADP-ribosylation.
    Title: Serine is the major residue for ADP-ribosylation upon DNA damage.
  9. ADPRHL2 was virtually absent in available affected individuals' fibroblasts.
    Title: Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
  10. study provides structural and functional insights into the molecular mechanism by which ARH3 hydrolyzes the ADP-ribosyl group from serine and contributes to DNA damage repair
    Title: Structure-function analyses reveal the mechanism of the ARH3-dependent hydrolysis of ADP-ribosylation.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
MedGen: C4748527 OMIM: 618170 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20446

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ADP-ribosylserine 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 hydrolase activity, hydrolyzing O-glycosyl compounds IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables poly(ADP-ribose) glycohydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables poly(ADP-ribose) glycohydrolase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables poly(ADP-ribose) glycohydrolase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in base-excision repair, gap-filling TAS
Traceable Author Statement
more info
  
involved_in cellular response to superoxide IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of necroptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in peptidyl-serine ADP-deribosylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus 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-ribosylhydrolase ARH3
Names
ADP-ribose glycohydrolase ARH3
ADP-ribosylarginine hydrolase like 2
ADP-ribosylhydrolase 3
ADP-ribosylhydrolase like 2
O-acetyl-ADP-ribose deacetylase ARH3
[Protein ADP-ribosylarginine] hydrolase-like protein 2
[Protein ADP-ribosylserine] hydrolase
poly(ADP-ribose) glycohydrolase ARH3
protein ADP-ribosylarginine hydrolase-like protein 2
NP_060295.1
XP_011539938.1
XP_054193231.1

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_017825.3 → NP_060295.1  ADP-ribosylhydrolase ARH3

    See identical proteins and their annotated locations for NP_060295.1

    Status: REVIEWED

    Source sequence(s)
    BC014169
    Consensus CDS
    CCDS402.1
    UniProtKB/Swiss-Prot
    Q53G94, Q6IAB8, Q9BY47, Q9NX46
    Related
    ENSP00000362273.4, ENST00000373178.5
    Conserved Domains (1) summary
    cl00614
    Location:22 → 339
    ADP_ribosyl_GH; ADP-ribosylglycohydrolase

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    36088892..36093932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541636.3 → XP_011539938.1  ADP-ribosylhydrolase ARH3 isoform X1

    See identical proteins and their annotated locations for XP_011539938.1

    UniProtKB/TrEMBL
    B7ZAN4
    Conserved Domains (1) summary
    pfam03747
    Location:1 → 184
    ADP_ribosyl_GH; ADP-ribosylglycohydrolase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    35951768..35956812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337256.1 → XP_054193231.1  ADP-ribosylhydrolase ARH3 isoform X1

    UniProtKB/TrEMBL
    B7ZAN4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NX46.1 GenPept UniProtKB/Swiss-Prot:Q9NX46

Gene LinkOut

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