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    UBR1 ubiquitin protein ligase E3 component n-recognin 1 [ Homo sapiens (human) ]

    Gene ID: 197131, updated on 1-Mar-2024

    Summary

    Official Symbol
    UBR1provided by HGNC
    Official Full Name
    ubiquitin protein ligase E3 component n-recognin 1provided by HGNC
    Primary source
    HGNC:HGNC:16808
    See related
    Ensembl:ENSG00000159459 MIM:605981; AllianceGenome:HGNC:16808
    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
    JBS
    Summary
    The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.4), endometrium (RPKM 6.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See UBR1 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42942897..43106038, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40750009..40913326, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43235095..43398236, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene tau tubulin kinase 2 Neighboring gene keratin 8 pseudogene 50 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:43181679-43182551 Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:43212294-43212794 and GRCh37_chr15:43212795-43213295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9308 Neighboring gene farnesyl diphosphate synthase pseudogene 4 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:43307016-43307895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6380 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:43368903-43369710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9309 Neighboring gene RPS3A pseudogene 47 Neighboring gene signal peptidase complex subunit 2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr The interaction of Vpr with DDB1 facilitates the formation of complexes containing Cul4A-Roc1 E3 ubiquitin ligase. The association of Vpr with DDB1-containing E3 ligase mediates the degradation of UNG2 and SMUG1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC142065, MGC142067

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables leucine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to leucine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    part_of proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase UBR1
    Names
    E3a ligase
    N-recognin-1
    RING-type E3 ubiquitin transferase UBR1
    ubiquitin ligase E3 alpha-I
    ubiquitin-protein ligase E3-alpha
    ubiquitin-protein ligase E3-alpha-1
    ubiquitin-protein ligase E3-alpha-I
    NP_777576.1

    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.

    Genomic

    1. NG_012182.1 RefSeqGene

      Range
      5051..168192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_174916.3NP_777576.1  E3 ubiquitin-protein ligase UBR1

      See identical proteins and their annotated locations for NP_777576.1

      Status: REVIEWED

      Source sequence(s)
      AK127478, AY061886, BE873236, BX648400
      Consensus CDS
      CCDS10091.1
      UniProtKB/Swiss-Prot
      O60708, O75492, Q14D45, Q68DN9, Q8IWV7, Q8IWY6, Q96JY4
      Related
      ENSP00000290650.4, ENST00000290650.9
      Conserved Domains (2) summary
      pfam02207
      Location:99166
      zf-UBR; Putative zinc finger in N-recognin (UBR box)
      pfam02617
      Location:221301
      ClpS; ATP-dependent Clp protease adaptor protein ClpS

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      42942897..43106038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      40750009..40913326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)