ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008] See more...

Aliases for ADPRHL1 Gene

Aliases for ADPRHL1 Gene

  • ADP-Ribosylhydrolase Like 1 2 3 5
  • [Protein ADP-Ribosylarginine] Hydrolase-Like Protein 1 3 4
  • ADP-Ribosylarginine Hydrolase Like 1 2 3
  • ADP-Ribosylhydrolase 2 3 4
  • ARH2 3 4
  • ADP-Ribosyl-Hydrolase 3
  • EC 3.2.-.- 4

External Ids for ADPRHL1 Gene

Previous GeneCards Identifiers for ADPRHL1 Gene

  • GC13M113162
  • GC13M112024
  • GC13M113124
  • GC13M114076
  • GC13M094515

Summaries for ADPRHL1 Gene

Entrez Gene Summary for ADPRHL1 Gene

  • ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ADPRHL1 Gene

ADPRHL1 (ADP-Ribosylhydrolase Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and ADP-ribosylarginine hydrolase activity. An important paralog of this gene is ADPRH.

Additional gene information for ADPRHL1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADPRHL1 Gene

Genomics for ADPRHL1 Gene

GeneHancer (GH) Regulatory Elements for ADPRHL1 Gene

Promoters and enhancers for ADPRHL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J113489 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 511.2 -38.9 -38854 8.4 HNRNPK EP300 ZSCAN5C TCF12 NRF1 POLR2G SP1 JUND PHF8 SIX5 TMCO3 ADPRHL1 DCUN1D2 GRTP1 DCUN1D2-AS GRTP1-AS1 F7 F10 PROZ ENSG00000276916
GH13J113447 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 500.7 +4.3 4276 2.7 EP300 FOXK2 ZBTB40 ZNF217 TCF12 POLR2G NCOR1 GTF2E2 PHF8 SIX5 ADPRHL1 DCUN1D2 TMCO3 LOC101928841
GH13J113450 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.7 +0.6 611 4.2 CTCF ZNF639 ZIC2 REST MXI1 OSR2 KLF9 SMC3 ZBTB17 ZNF76 ADPRHL1 DCUN1D2 TMCO3 UPF3A LOC101928841
GH13J113815 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.7 -363.7 -363693 4.3 ZBTB40 CTCF ZNF639 ZIC2 TCF7 GABPA REST RAD21 TRIM22 POLR2A GAS6-AS1 TMEM255B ADPRHL1 DQ866763
GH13J113408 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 8.5 +42.7 42691 4.2 JUND FOS ZNF639 ZIC2 ZNF423 EP300 ZEB1 ATF2 ZNF585B MYC ADPRHL1 TUBGCP3 GRTP1 MCF2L lnc-GRTP1-4 LOC101928841
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADPRHL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADPRHL1

Top Transcription factor binding sites by QIAGEN in the ADPRHL1 gene promoter:
  • AML1a
  • FOXO1
  • LUN-1
  • p53
  • TBP

Genomic Locations for ADPRHL1 Gene

Genomic Locations for ADPRHL1 Gene
chr13:113,399,610-113,453,524
(GRCh38/hg38)
Size:
53,915 bases
Orientation:
Minus strand
chr13:114,076,260-114,107,839
(GRCh37/hg19)
Size:
31,580 bases
Orientation:
Minus strand

Genomic View for ADPRHL1 Gene

Genes around ADPRHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADPRHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADPRHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADPRHL1 Gene

Proteins for ADPRHL1 Gene

  • Protein details for ADPRHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDY3-ARHL1_HUMAN
    Recommended name:
    [Protein ADP-ribosylarginine] hydrolase-like protein 1
    Protein Accession:
    Q8NDY3
    Secondary Accessions:
    • Q5JUG2
    • Q96GD1

    Protein attributes for ADPRHL1 Gene

    Size:
    354 amino acids
    Molecular mass:
    40105 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADPRHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADPRHL1 Gene

Post-translational modifications for ADPRHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ADPRHL1 Gene

No data available for DME Specific Peptides for ADPRHL1 Gene

Domains & Families for ADPRHL1 Gene

Gene Families for ADPRHL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ADPRHL1 Gene

Blocks:
  • ADP-ribosylglycohydrolase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ADPRHL1 Gene

GenScript: Design optimal peptide antigens:
  • ADP-ribosylhydrolase 2 (ARHL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NDY3

UniProtKB/Swiss-Prot:

ARHL1_HUMAN :
  • Belongs to the ADP-ribosylglycohydrolase family.
Family:
  • Belongs to the ADP-ribosylglycohydrolase family.
genes like me logo Genes that share domains with ADPRHL1: view

Function for ADPRHL1 Gene

Enzyme Numbers (IUBMB) for ADPRHL1 Gene

Phenotypes From GWAS Catalog for ADPRHL1 Gene

Gene Ontology (GO) - Molecular Function for ADPRHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003875 ADP-ribosylarginine hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADPRHL1: view
genes like me logo Genes that share phenotypes with ADPRHL1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADPRHL1 Gene

Localization for ADPRHL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADPRHL1 gene
Compartment Confidence
nucleus 3
plasma membrane 2
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ADPRHL1 Gene

Pathways & Interactions for ADPRHL1 Gene

PathCards logo

SuperPathways for ADPRHL1 Gene

No Data Available

Interacting Proteins for ADPRHL1 Gene

;

Gene Ontology (GO) - Biological Process for ADPRHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051725 protein de-ADP-ribosylation IEA --
genes like me logo Genes that share ontologies with ADPRHL1: view

No data available for Pathways by source and SIGNOR curated interactions for ADPRHL1 Gene

Drugs & Compounds for ADPRHL1 Gene

No Compound Related Data Available

Transcripts for ADPRHL1 Gene

mRNA/cDNA for ADPRHL1 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADPRHL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - -
SP2:
SP3: -
SP4: - -
SP5:

Relevant External Links for ADPRHL1 Gene

GeneLoc Exon Structure for
ADPRHL1

Expression for ADPRHL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADPRHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADPRHL1 Gene

This gene is overexpressed in Heart - Left Ventricle (x20.4), Heart - Atrial Appendage (x12.1), and Muscle - Skeletal (x11.9).

Protein differential expression in normal tissues from HIPED for ADPRHL1 Gene

This gene is overexpressed in Heart (47.8) and Fetal heart (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADPRHL1 Gene



Protein tissue co-expression partners for ADPRHL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADPRHL1

SOURCE GeneReport for Unigene cluster for ADPRHL1 Gene:

Hs.98669

Evidence on tissue expression from TISSUES for ADPRHL1 Gene

  • Heart(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with ADPRHL1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADPRHL1 Gene

Orthologs for ADPRHL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADPRHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADPRHL1 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADPRHL1 31 30
  • 81.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adprhl1 30
  • 80.64 (n)
mouse
(Mus musculus)
Mammalia Adprhl1 17 31 30
  • 79.98 (n)
cow
(Bos Taurus)
Mammalia ADPRHL1 31 30
  • 78.81 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADPRHL1 31
  • 48 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADPRHL1 31
  • 17 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADPRHL1 31
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADPRHL1 31
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2412 30
zebrafish
(Danio rerio)
Actinopterygii adprhl1 31 30
  • 67.43 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Species where no ortholog for ADPRHL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADPRHL1 Gene

ENSEMBL:
Gene Tree for ADPRHL1 (if available)
TreeFam:
Gene Tree for ADPRHL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADPRHL1: view image

Paralogs for ADPRHL1 Gene

Paralogs for ADPRHL1 Gene

(1) SIMAP similar genes for ADPRHL1 Gene using alignment to 1 proteins:

  • ARHL1_HUMAN
genes like me logo Genes that share paralogs with ADPRHL1: view

Variants for ADPRHL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADPRHL1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs9577273 - p.Ala7Val

Additional dbSNP identifiers (rs#s) for ADPRHL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADPRHL1 Gene

Variant ID Type Subtype PubMed ID
dgv1132e59 CNV duplication 20981092
dgv1744n100 CNV gain 25217958
dgv3449n54 CNV loss 21841781
esv1314688 CNV deletion 17803354
esv1482794 CNV insertion 17803354
esv22722 CNV gain+loss 19812545
esv2454485 CNV insertion 19546169
esv2677394 CNV deletion 23128226
esv2748295 CNV deletion 23290073
esv2748296 CNV deletion 23290073
esv2748298 CNV deletion 23290073
esv2759970 CNV loss 17122850
esv3433428 CNV duplication 20981092
esv3580910 CNV loss 25503493
esv3633609 CNV loss 21293372
nsv1044941 CNV gain 25217958
nsv1048814 CNV gain 25217958
nsv1075856 CNV duplication 25765185
nsv1112267 CNV deletion 24896259
nsv1115719 CNV deletion 24896259
nsv1118525 CNV duplication 24896259
nsv1125191 CNV insertion 24896259
nsv1145875 CNV deletion 26484159
nsv1150562 CNV duplication 26484159
nsv1195 CNV insertion 18451855
nsv456137 CNV loss 19166990
nsv509522 CNV insertion 20534489
nsv513403 CNV insertion 21212237
nsv563318 CNV loss 21841781
nsv563321 CNV loss 21841781
nsv563378 CNV loss 21841781
nsv563379 CNV loss 21841781
nsv64447 CNV deletion 16902084
nsv64502 CNV deletion 16902084
nsv64762 CNV deletion 16902084
nsv9116 CNV gain 18304495
nsv951928 CNV deletion 24416366
nsv958118 CNV deletion 24416366

Variation tolerance for ADPRHL1 Gene

Residual Variation Intolerance Score: 80.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADPRHL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADPRHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADPRHL1 Gene

Disorders for ADPRHL1 Gene

Additional Disease Information for ADPRHL1

No disorders were found for ADPRHL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADPRHL1 Gene

Publications for ADPRHL1 Gene

  1. The family of toxin-related ecto-ADP-ribosyltransferases in humans and the mouse. (PMID: 12070318) Glowacki G … Koch-Nolte F (Protein science : a publication of the Protein Society 2002) 2 3 4 54
  2. The cardiac-restricted protein ADP-ribosylhydrolase-like 1 is essential for heart chamber outgrowth and acts on muscle actin filament assembly. (PMID: 27217161) Smith SJ … Mohun TJ (Developmental biology 2016) 2 3 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 54
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 54

Products for ADPRHL1 Gene

Sources for ADPRHL1 Gene