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

    Gene ID: 113622, updated on 5-Mar-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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    Location:
    13q34
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113399610..113453488, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112655703..112712331, complement)
    105.20220307 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
    • 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. 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
    2. 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
    3. 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
    4. [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
    5. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article

    See all (10) 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
    		  
    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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    NEW Try the new Transcript table

    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_2023_10

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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