Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54936
Gene name Gene Name - the full gene name approved by the HGNC.	ADP-ribosylserine hydrolase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADPRS
Synonyms (NCBI Gene) Gene synonyms aliases	ADPRHL2, ARH3, CONDSIAS
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 RefS

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200626873	C>T	Pathogenic	Missense variant, coding sequence variant
rs201735454	T>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368433666	C>G,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, stop gained
rs1557732234	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1557733311	A>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1557733367	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1557733597	TGCCC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1557734377	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570008399	AG>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1570012058	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570013257	GAT>-	Likely-pathogenic	Coding sequence variant, inframe indel

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	30045870, 33894202
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IDA	30045870
GO:0004649	Function	Poly(ADP-ribose) glycohydrolase activity	IDA	17075046, 30830864, 33894202, 34019811, 34479984
GO:0004649	Function	Poly(ADP-ribose) glycohydrolase activity	IEA
GO:0004649	Function	Poly(ADP-ribose) glycohydrolase activity	IMP	33769608, 34321462
GO:0004649	Function	Poly(ADP-ribose) glycohydrolase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	30045870, 34479984
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	34479984
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	34479984
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	30045870
GO:0006287	Process	Base-excision repair, gap-filling	TAS
GO:0006974	Process	DNA damage response	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060546	Process	Negative regulation of necroptotic process	IEA
GO:0060546	Process	Negative regulation of necroptotic process	ISS
GO:0061463	Function	O-acetyl-ADP-ribose deacetylase activity	IDA	17075046, 21498885
GO:0071451	Process	Cellular response to superoxide	IEA
GO:0071451	Process	Cellular response to superoxide	IEA
GO:0071451	Process	Cellular response to superoxide	IMP	30401461
GO:0090734	Component	Site of DNA damage	IDA	30045870
GO:0140290	Process	Peptidyl-serine ADP-deribosylation	IDA	28650317, 29234005, 33186521
GO:0140290	Process	Peptidyl-serine ADP-deribosylation	IEA
GO:0140292	Function	ADP-ribosylserine hydrolase activity	IDA	28650317, 29234005, 33186521, 34625544, 37268618
GO:0140292	Function	ADP-ribosylserine hydrolase activity	IEA

MIM	HGNC	e!Ensembl
610624	21304	ENSG00000116863

Protein

UniProt ID

Q9NX46

Protein name

ADP-ribosylhydrolase ARH3 (ADP-ribose glycohydrolase ARH3) (ADP-ribosylhydrolase 3) (O-acetyl-ADP-ribose deacetylase ARH3) (EC 3.5.1.-) (Poly(ADP-ribose) glycohydrolase ARH3) (EC 3.2.1.143) ([Protein ADP-ribosylarginine] hydrolase-like protein 2) ([Protei

Protein function

ADP-ribosylhydrolase that preferentially hydrolyzes the scissile alpha-O-linkage attached to the anomeric C1'' position of ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on serine and threonine, free poly(ADP-ribos

PDB

2FOZ , 2FP0 , 2G4K , 5ZQY , 6D36 , 6D3A , 7AKR , 7AKS , 7ARW , 7L9F , 7L9H , 7L9I

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03747	ADP_ribosyl_GH	25 → 338	ADP-ribosylglycohydrolase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:16278211). Expressed in skin fibroblasts (PubMed:30830864). {ECO:0000269|PubMed:16278211, ECO:0000269|PubMed:30830864}.

Sequence

MAAAAMAAAAGGGAGAARSLSRFRGCLAGALLGDCVGSFYEAHDTVDLTSVLRHVQSLEP
DPGTPGSERTEALYYTDDTAMARALVQSLLAKEAFDEVDMAHRFAQEYKKDPDRGYGAGV
VTVFKKLLNPKCRDVFEPARAQFNGKGSYGNGGAMRVAGISLAYSSVQDVQKFARLSAQL
THASSLGYNGAILQALAVHLALQGESSSEHFLKQLLGHMEDLEGDAQSVLDARELGMEER
PYSSRLKKIGELLDQASVTREEVVSELGNGIAAFESVPTAIYCFLRCMEPDPEIPSAFNS
LQRTLIYSISLGGDTDTIATMAGAIAGAYYGMDQVPESWQQSCEGYEETDILAQSLHRVF
QKS

Sequence length

363

Interactions

View interactions

	KEGG		Reactome
	Base excision repair		POLB-Dependent Long Patch Base Excision Repair

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Neurodegenerative Disorders with variable ataxia and seizures	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	rs1557734377, rs368433666, rs1557733311, rs1557733597, rs200626873, rs1557732234, rs201735454, rs1557733367, rs1570012058, rs1570008399, rs1570013257	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Prostate cancer	Prostate cancer	These results indicate that loss/downregulation of ARH3 is associated with more aggressive PC.	35933519	CBGDA

ADPRS (ADP-ribosylserine hydrolase)