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    ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

    Gene ID: 25820, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ARIH1provided by HGNC
    Official Full Name
    ariadne RBR E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC:HGNC:689
    See related
    Ensembl:ENSG00000166233 MIM:605624; AllianceGenome:HGNC:689
    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
    ARI; HARI; HHARI; UBCH7BP
    Summary
    Enables enzyme binding activity; ubiquitin-protein transferase activity; and zinc ion binding activity. Involved in protein ubiquitination. Located in several cellular components, including Lewy body; cullin-RING ubiquitin ligase complex; and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 22.0), thyroid (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARIH1 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72474330..72602987)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70291593..70420271)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72766671..72895328)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene TMEM202 antisense RNA 1 Neighboring gene transmembrane protein 202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:72743763-72744262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9722 Neighboring gene PHB1 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9723 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:72766566-72766762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6625 Neighboring gene MPRA-validated peak2380 silencer Neighboring gene SWI5 recombination repair homolog (yeast) pseudogene Neighboring gene microRNA 630 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72902139-72902639 Neighboring gene golgin A6 family member A pseudogene Neighboring gene long intergenic non-protein coding RNA 2259

    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. Characterisation of the human and mouse orthologues of the Drosophila ariadne gene. Tan NG, et al. Cytogenet Cell Genet, 2000. PMID 11124525
    2. Parkin-Independent Mitophagy Controls Chemotherapeutic Response in Cancer Cells. Villa E, et al. Cell Rep, 2017 Sep 19. PMID 28930681
    3. Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies. Elmehdawi F, et al. Exp Cell Res, 2013 Feb 1. PMID 23059369
    4. ARIH1 signaling promotes anti-tumor immunity by targeting PD-L1 for proteasomal degradation. Wu Y, et al. Nat Commun, 2021 Apr 20. PMID 33879767, Free PMC Article
    5. Ubiquitin ligation to F-box protein targets by SCF-RBR E3-E3 super-assembly. Horn-Ghetko D, et al. Nature, 2021 Feb. PMID 33536622, Free PMC Article

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARIH1 signaling promotes anti-tumor immunity by targeting PD-L1 for proteasomal degradation.
      Title: ARIH1 signaling promotes anti-tumor immunity by targeting PD-L1 for proteasomal degradation.
    2. ubiquitin-associated (UBA) domain-containing DCNL1 is monoubiquitylated when bound to CRLs and that this monoubiquitylation depends on the CRL-associated Ariadne RBR ligases TRIAD1 (ARIH2) and HHARI (ARIH1) and strictly requires the DCNL1's UBA domain.
      Title: Coupled monoubiquitylation of the co-E3 ligase DCNL1 by Ariadne-RBR E3 ubiquitin ligases promotes cullin-RING ligase complex remodeling.
    3. ARIH1-mediated mitophagy promotes therapeutic resistance.
      Title: Parkin-Independent Mitophagy Controls Chemotherapeutic Response in Cancer Cells.
    4. Variants in ARIH1 are associated with developing aortic aneurysms.
      Title: Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
    5. Crystal structure of HHARI and UbcH7 reveals UbcH7 approximately Ub binding RING1 domain of auto-inhibited HHARI.HHARI UBA-L domain has Ub binding properties.
      Title: Structural Studies of HHARI/UbcH7∼Ub Reveal Unique E2∼Ub Conformational Restriction by RBR RING1.
    6. HHARI prevents spurious discharge of Ub from E2 to lysine residues by harboring structural elements that block E2 ~ Ub from adopting a 'closed' conformation.
      Title: Structural insights into the mechanism and E2 specificity of the RBR E3 ubiquitin ligase HHARI.
    7. DNA damage induces an increase in ARIH1 protein levels and association of ARIH1 with 4EHP. In turn, this causes 4EHP recruitment to the mRNA cap, where it is known to compete with eIF4E.
      Title: The E3 ubiquitin ligase ARIH1 protects against genotoxic stress by initiating a 4EHP-mediated mRNA translation arrest.
    8. Determined is the three-dimensional solution structure of the catalytic RING2 domain from HHARI. It shows glimpses of a HECT E3 ligase.
      Title: Structure of the HHARI catalytic domain shows glimpses of a HECT E3 ligase.
    9. TRIAD1 and HHARI bind to and are activated by distinct neddylated Cullin-RING ligase complexes.
      Title: TRIAD1 and HHARI bind to and are activated by distinct neddylated Cullin-RING ligase complexes.
    10. HHARI is a marker of cellular proliferation associated with nuclear bodies.
      Title: Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    Clone Names

    • FLJ20329, FLJ93118, DKFZp686O13120

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin conjugating enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like protein transferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in PKR/eIFalpha signaling TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Lewy body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ubiquitin ligase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase ARIH1
    Names
    ARI-1
    H7-AP2
    MOP-6
    ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1
    ariadne, Drosophila, homolog of
    monocyte protein 6
    protein ariadne-1 homolog
    ubcH7-binding protein
    ubcM4-interacting protein
    ubiquitin-conjugating enzyme E2-binding protein 1
    NP_005735.2

    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_005744.5 → NP_005735.2  E3 ubiquitin-protein ligase ARIH1

      See identical proteins and their annotated locations for NP_005735.2

      Status: VALIDATED

      Source sequence(s)
      AC079322, AC100827
      Consensus CDS
      CCDS10244.1
      UniProtKB/Swiss-Prot
      B2R6U3, O76026, Q9H3T6, Q9UEN0, Q9UP39, Q9Y4X5
      Related
      ENSP00000369217.4, ENST00000379887.9
      Conserved Domains (3) summary
      smart00647
      Location:257 → 317
      IBR; In Between Ring fingers
      cd16626
      Location:185 → 242
      RING-HC_RBR_HHARI; RING finger, HC subclass, found in human homolog of Drosophila ariadne (HHARI) and similar proteins
      pfam01485
      Location:339 → 379
      IBR; IBR domain, a half RING-finger domain

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      72474330..72602987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      70291593..70420271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4X5.2 GenPept UniProtKB/Swiss-Prot:Q9Y4X5

    Gene LinkOut

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

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