ADP-ribosylhydrolase 3

(ADP-ribosyl)hydrolase 3 (ARH3) is an enzyme that in humans is encoded by the ADPRHL2 gene (also called ADPRS^[5]).^[6][7][8] This enzyme reverses the proteins’ post-translational addition of ADP-ribose to serine residues as part of the DNA damage response^[9][10] The enzyme is also known to cleave poly(ADP-ribose) polymers, 1''-O-acetyl-ADP-ribose and alpha-NAD^{+[10][11][12][7][13]}

ADPRS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2FOZ, 2FP0, 2G4K
Identifiers
Aliases	ADPRS, ARH3, ADP-ribosylhydrolase like 2, CONDSIAS, ADP-ribosylserine hydrolase, ADPRHL2
External IDs	OMIM: 610624; MGI: 2140364; HomoloGene: 9863; GeneCards: ADPRS; OMA:ADPRS - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.3 Start 36,088,892 bp[1] End 36,093,932 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.2 Start 126,209,840 bp[2] End 126,215,496 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube endothelial cell gingival epithelium middle temporal gyrus bronchial epithelial cell sperm Brodmann area 23 nasal epithelium pancreatic epithelial cell pancreatic ductal cell Top expressed in lip right kidney yolk sac neural tube embryo embryo proximal tubule ventricular zone epiblast neural layer of retina More reference expression data BioGPS n/a
Gene ontology Molecular function hydrolase activity metal ion binding poly(ADP-ribose) glycohydrolase activity Cellular component cytoplasm mitochondrion nucleus nucleoplasm nuclear body mitochondrial matrix Biological process cellular response to superoxide Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54936 100206 Ensembl ENSG00000116863 ENSMUSG00000042558 UniProt Q9NX46 Q8CG72 RefSeq (mRNA) NM_017825 NM_133883 RefSeq (protein) NP_060295 NP_598644 Location (UCSC) Chr 1: 36.09 – 36.09 Mb Chr 4: 126.21 – 126.22 Mb PubMed search [3] [4]
Wikidata
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Role in disease

Loss-of-function mutations in the ADPRHL2 gene result in a recently defined disorder called stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS; OMIM: 618170).^{[14][15][16][17][18][19]} The CONDSIAS is an autosomal recessive disorder which its pertinent gene (ADPRHL2) is mapped on chromosome 1p35.3-p34.1. The phenotypes of this disorder have been reported as neurodegeneration, variable ataxia and seizures, tremor, nystagmus, balance problems, cerebellar, spinal cord and cerebral atrophy, hearing impairment and occasionally hearing loss, ptosis, ophthalmoplegia, dysarthria, muscle weakness, axonal neuropathy, dysmetria, and tongue fasciculation.^[16][14] Symptoms and severity of the disorder appear to be different in patients and sometimes lead to early childhood death. In other words, although older patients present most of the above-mentioned symptoms, younger patients experience loss of developmental milestones and death in their early infancy.^[15]

See also

• ADP-ribosylhydrolase