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ADPRHL1 ADP-ribosylhydrolase like 1 [ Homo sapiens (human) ]

Gene ID: 113622, updated on 2-Nov-2024

Summary

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Official Symbol
ADPRHL1provided by HGNC
Official Full Name
ADP-ribosylhydrolase like 1provided by HGNC
Primary source
HGNC:HGNC:21303
See related
Ensembl:ENSG00000153531 MIM:610620; AllianceGenome:HGNC:21303
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARH2
Summary
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]
Expression
Biased expression in heart (RPKM 98.4) and prostate (RPKM 3.2) See more
Orthologs
mouse all
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Genomic context

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See ADPRHL1 in Genome Data Viewer
Location:
13q34
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113399610..113453488, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112655703..112712331, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (114053925..114107803, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene growth hormone regulated TBC protein 1 Neighboring gene GRTP1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 43 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114019311-114020004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114020005-114020698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114021393-114022086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114027480-114028460 Neighboring gene uncharacterized LOC124903218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114032969-114033953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114047778-114048319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5546 Neighboring gene Sharpr-MPRA regulatory region 10007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114059695-114060489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114061607-114062292 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114064726-114065925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114071164-114072164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114072165-114073165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114075358-114076070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114076783-114077494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114080191-114080738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114085068-114085648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114100205-114101146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114105835-114106336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114110333-114111263 Neighboring gene defective in cullin neddylation 1 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5548 Neighboring gene RNA, U1 small nuclear 16, pseudogene Neighboring gene transmembrane and coiled-coil domains 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:114192765-114192953 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:114195260-114196459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114200259-114201002

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 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. The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK pathway. Tian L, et al. Stem Cell Res Ther, 2023 Oct 26. PMID 37880701, Free PMC Article
  2. Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene. Targa A, et al. EMBO J, 2021 Nov 2. PMID 34528284, Free PMC Article
  3. The cardiac-restricted protein ADP-ribosylhydrolase-like 1 is essential for heart chamber outgrowth and acts on muscle actin filament assembly. Smith SJ, et al. Dev Biol, 2016 Aug 15. PMID 27217161, Free PMC Article
  4. The family of toxin-related ecto-ADP-ribosyltransferases in humans and the mouse. Glowacki G, et al. Protein Sci, 2002 Jul. PMID 12070318, Free PMC Article
  5. [IMAGE: molecular integration of the analysis of the human genome and its expression]. Auffray C, et al. C R Acad Sci III, 1995 Feb. PMID 7757816

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK pathway.
    Title: The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK pathway.
  2. Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
    Title: Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
  3. Hybrid human-Xenopus Adprhl1 protein constructs were produced by utilizing restriction sites from one species and engineering the same site into the second species by PCR. Hearts containing human ADPRHL1 developed normally. Engineered human-Xenopus hybrid proteins cause extensive branching of myofibrils with sarcomere division occurring at the actin-Z-disc boundary.
    Title: The cardiac-restricted protein ADP-ribosylhydrolase-like 1 is essential for heart chamber outgrowth and acts on muscle actin filament assembly.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp451A211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ADP-ribosylarginine hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cardiac chamber ballooning ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cardiac myofibril assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein de-ADP-ribosylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in sarcomere ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
inactive ADP-ribosyltransferase ARH2
Names
ADP-ribosyl-hydrolase
ADP-ribosylarginine hydrolase like 1
ADP-ribosylhydrolase 2
ADP-ribosylhydrolase-like protein 1
[Protein ADP-ribosylarginine] hydrolase-like protein 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_001304433.1 → NP_001291362.1  inactive ADP-ribosyltransferase ARH2 isoform 3

    See identical proteins and their annotated locations for NP_001291362.1

    Status: VALIDATED

    Description
    Transcript Variant: Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AL160251, BC036906, Z28716
    Consensus CDS
    CCDS91840.1
    UniProtKB/TrEMBL
    A0A804HI13
    Conserved Domains (3) summary
    PTZ00121
    Location:1239 → 1444
    PTZ00121; MAEBL; Provisional
    PRK07764
    Location:748 → 1142
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam03157
    Location:1123 → 1547
    Glutenin_hmw; High molecular weight glutenin subunit

  2. NM_001375393.1 → NP_001362322.1  inactive ADP-ribosyltransferase ARH2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AL160251
    Consensus CDS
    CCDS91840.1
    UniProtKB/TrEMBL
    A0A804HI13
    Related
    ENSP00000506851.1, ENST00000682618.1
    Conserved Domains (3) summary
    PTZ00121
    Location:1239 → 1444
    PTZ00121; MAEBL; Provisional
    PRK07764
    Location:748 → 1142
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam03157
    Location:1123 → 1547
    Glutenin_hmw; High molecular weight glutenin subunit

  3. NM_001394807.1 → NP_001381736.1  inactive ADP-ribosyltransferase ARH2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL160251
    Consensus CDS
    CCDS91841.1
    UniProtKB/TrEMBL
    A0A0U1RQK4
    Related
    ENSP00000489048.1, ENST00000612156.3
    Conserved Domains (4) summary
    PRK07764
    Location:1112 → 1506
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    PRK09510
    Location:1605 → 1770
    tolA; cell envelope integrity inner membrane protein TolA; Provisional
    pfam03157
    Location:1479 → 1911
    Glutenin_hmw; High molecular weight glutenin subunit
    cl00614
    Location:2 → 349
    ADP_ribosyl_GH; ADP-ribosylglycohydrolase

  4. NM_138430.5 → NP_612439.2  inactive ADP-ribosyltransferase ARH2 isoform 1

    See identical proteins and their annotated locations for NP_612439.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AJ313429, BC009755
    Consensus CDS
    CCDS9535.1
    UniProtKB/Swiss-Prot
    Q5JUG2, Q8NDY3, Q96GD1
    Related
    ENSP00000364567.3, ENST00000375418.8
    Conserved Domains (1) summary
    pfam03747
    Location:6 → 327
    ADP_ribosyl_GH; ADP-ribosylglycohydrolase

  5. NM_199162.3 → NP_954631.1  inactive ADP-ribosyltransferase ARH2 isoform 2

    See identical proteins and their annotated locations for NP_954631.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation at an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AL160251, BC009755
    Consensus CDS
    CCDS9536.1
    UniProtKB/Swiss-Prot
    Q8NDY3
    Related
    ENSP00000348894.4, ENST00000356501.8
    Conserved Domains (1) summary
    pfam03747
    Location:35 → 245
    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    113399610..113453488 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430086.1 → XP_047286042.1  inactive ADP-ribosyltransferase ARH2 isoform X1

  2. XM_011537461.3 → XP_011535763.1  inactive ADP-ribosyltransferase ARH2 isoform X2

    See identical proteins and their annotated locations for XP_011535763.1

    UniProtKB/TrEMBL
    A0A804HI13
    Conserved Domains (3) summary
    PTZ00121
    Location:1239 → 1444
    PTZ00121; MAEBL; Provisional
    PRK07764
    Location:748 → 1142
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam03157
    Location:1123 → 1547
    Glutenin_hmw; High molecular weight glutenin subunit

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    112655703..112712331 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374091.1 → XP_054230066.1  inactive ADP-ribosyltransferase ARH2 isoform X1

  2. XM_054374092.1 → XP_054230067.1  inactive ADP-ribosyltransferase ARH2 isoform X2

    UniProtKB/TrEMBL
    A0A804HI13

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001003399.1: Suppressed sequence

    Description
    NM_001003399.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDY3.1 GenPept UniProtKB/Swiss-Prot:Q8NDY3

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