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    ADPRH ADP-ribosylarginine hydrolase [ Homo sapiens (human) ]

    Gene ID: 141, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ADPRHprovided by HGNC
    Official Full Name
    ADP-ribosylarginine hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:269
    See related
    Ensembl:ENSG00000144843 MIM:603081; AllianceGenome:HGNC:269
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARH1; hARH1
    Summary
    The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]
    Expression
    Ubiquitous expression in lung (RPKM 7.2), spleen (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADPRH in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119579492..119589945)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122299217..122309670)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119298339..119308792)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CD80 molecule Neighboring gene CSRP2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20308 Neighboring gene Sharpr-MPRA regulatory region 12076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20311 Neighboring gene uncharacterized LOC107986118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119287249-119287750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:119297943-119298444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20314 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:119300593-119301792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119319749-119320248 Neighboring gene phospholipase A1 member A Neighboring gene ReSE screen-validated silencer GRCh37_chr3:119331548-119331710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20318 Neighboring gene ribosomal protein L10 pseudogene 7

    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. Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis. Weber F, et al. J Clin Endocrinol Metab, 2005 Feb. PMID 15546898
    2. The alpha 7 integrin as a target protein for cell surface mono-ADP-ribosylation in muscle cells. Zolkiewska A, et al. Adv Exp Med Biol, 1997. PMID 9193669
    3. Cloning, expression, purification and crystallization as well as X-ray fluorescence and preliminary X-ray diffraction analyses of human ADP-ribosylhydrolase 1. Kernstock S, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2009 May 1. PMID 19407395, Free PMC Article
    4. (ADP-ribosyl)hydrolases: Structural Basis for Differential Substrate Recognition and Inhibition. Rack JGM, et al. Cell Chem Biol, 2018 Dec 20. PMID 30472116, Free PMC Article
    5. 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

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. prerequisite for obtaining well diffracting crystals was the performance of X-ray fluorescence analysis on poorly diffracting apo hARH1 crystals, which revealed the presence of trace amounts of K(+) in the crystal
      Title: Cloning, expression, purification and crystallization as well as X-ray fluorescence and preliminary X-ray diffraction analyses of human ADP-ribosylhydrolase 1.
    2. Silencing of the putative maternally imprinted tumor suppressor gene ARHI serves as a key early event in follicular thyroid carcinogenesis.
      Title: Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP-ribosylarginine hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ADP-ribosylarginine hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables potassium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein de-ADP-ribosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein modification process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylarginine hydrolase
    Names
    ADP-ribose-L-arginine cleaving enzyme
    ADP-ribosylhydrolase ARH1
    [Protein ADP-ribosylarginine] hydrolase
    NP_001116.1
    NP_001278878.1
    NP_001278879.1
    NP_001358021.1
    NP_001378921.1
    XP_047303432.1
    XP_054201282.1

    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_001125.4 → NP_001116.1  ADP-ribosylarginine hydrolase isoform 1

      See identical proteins and their annotated locations for NP_001116.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein. Variants 1, 2 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC073352, BC063883, BC074769
      Consensus CDS
      CCDS2990.1
      UniProtKB/Swiss-Prot
      B2R8H1, D3DN83, P54922
      UniProtKB/TrEMBL
      A8K6X2
      Related
      ENSP00000349496.3, ENST00000357003.8
      Conserved Domains (1) summary
      pfam03747
      Location:6 → 323
      ADP_ribosyl_GH; ADP-ribosylglycohydrolase

    2. NM_001291949.2 → NP_001278878.1  ADP-ribosylarginine hydrolase isoform 1

      See identical proteins and their annotated locations for NP_001278878.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC073352, AK291787, BC063883, BC074769
      Consensus CDS
      CCDS2990.1
      UniProtKB/Swiss-Prot
      B2R8H1, D3DN83, P54922
      UniProtKB/TrEMBL
      A8K6X2
      Related
      ENSP00000417528.1, ENST00000478927.5
      Conserved Domains (1) summary
      pfam03747
      Location:6 → 323
      ADP_ribosyl_GH; ADP-ribosylglycohydrolase

    3. NM_001291950.2 → NP_001278879.1  ADP-ribosylarginine hydrolase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons, differs in the 5' UTR, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC073352, AK304560, BC063883
      UniProtKB/Swiss-Prot
      P54922
      UniProtKB/TrEMBL
      B4E341
      Conserved Domains (1) summary
      pfam03747
      Location:25 → 216
      ADP_ribosyl_GH; ADP-ribosylglycohydrolase

    4. NM_001371092.1 → NP_001358021.1  ADP-ribosylarginine hydrolase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs from variant 1 in the 5' UTR. Variants 1, 2 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC073352
      Consensus CDS
      CCDS2990.1
      UniProtKB/Swiss-Prot
      B2R8H1, D3DN83, P54922
      UniProtKB/TrEMBL
      A8K6X2
      Conserved Domains (1) summary
      pfam03747
      Location:6 → 323
      ADP_ribosyl_GH; ADP-ribosylglycohydrolase

    5. NM_001391992.1 → NP_001378921.1  ADP-ribosylarginine hydrolase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC073352
      Consensus CDS
      CCDS2990.1
      UniProtKB/Swiss-Prot
      B2R8H1, D3DN83, P54922
      UniProtKB/TrEMBL
      A8K6X2
      Related
      ENSP00000420200.1, ENST00000478399.5
      Conserved Domains (1) summary
      pfam03747
      Location:6 → 323
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      119579492..119589945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447476.1 → XP_047303432.1  ADP-ribosylarginine hydrolase isoform X1

      UniProtKB/Swiss-Prot
      B2R8H1, D3DN83, P54922

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      122299217..122309670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345307.1 → XP_054201282.1  ADP-ribosylarginine hydrolase isoform X1

      UniProtKB/Swiss-Prot
      B2R8H1, D3DN83, P54922
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54922.1 GenPept UniProtKB/Swiss-Prot:P54922

    Gene LinkOut

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