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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
AI26 inhibits the ADP-ribosylhydrolase ARH3 and suppresses DNA damage repair.
Title: AI26 inhibits the ADP-ribosylhydrolase ARH3 and suppresses DNA damage repair.
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.
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.
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.
ADPRHL2 was virtually absent in available affected individuals' fibroblasts.
Title: Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16011 (e-PCR)
- UniSTS:18288

SHGC-74600 (e-PCR)
- UniSTS:75775

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 more info	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

EC 3.2.1.143

XP_011539938.1

EC 3.2.1.143

XP_054193231.1

EC 3.2.1.143

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.