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    UBR7 ubiquitin protein ligase E3 component n-recognin 7 [ Homo sapiens (human) ]

    Gene ID: 55148, updated on 14-Nov-2024

    Summary

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    Official Symbol
    UBR7provided by HGNC
    Official Full Name
    ubiquitin protein ligase E3 component n-recognin 7provided by HGNC
    Primary source
    HGNC:HGNC:20344
    See related
    Ensembl:ENSG00000012963 MIM:613816; AllianceGenome:HGNC:20344
    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
    LICAS; C14orf130
    Summary
    This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in brain (RPKM 15.7), testis (RPKM 15.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBR7 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93207256..93229215)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87439146..87461127)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93673601..93695561)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:93672647-93673506 Neighboring gene lysosomal enzyme trafficking factor Neighboring gene ribosomal protein L18a pseudogene 1 Neighboring gene GON7 subunit of KEOPS complex Neighboring gene ribosomal protein L36a pseudogene 4 Neighboring gene BTB domain containing 7 Neighboring gene NANOG hESC enhancer GRCh37_chr14:93810118-93810619 Neighboring gene unc-79 homolog, NALCN channel complex subunit Neighboring gene cytochrome c oxidase subunit 8C

    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. UBR7 in concert with EZH2 inhibits the TGF-β signaling leading to extracellular matrix remodeling. Adhikari S, et al. Cell Rep, 2024 Jul 23. PMID 38923455
    2. NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T cell acute lymphoblastic leukemia. Srivastava S, et al. Sci Adv, 2021 Jan. PMID 33571115, Free PMC Article
    3. Synthetic heterovalent inhibitors targeting recognition E3 components of the N-end rule pathway. Lee MJ, et al. Proc Natl Acad Sci U S A, 2008 Jan 8. PMID 18162545, Free PMC Article
    4. Molecular characterization of substrate-induced ubiquitin transfer by UBR7-PHD finger, a newly identified histone H2BK120 ubiquitin ligase. Dasgupta A, et al. FEBS J, 2022 Apr. PMID 34739193
    5. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Li C, et al. Am J Hum Genet, 2021 Jan 7. PMID 33340455, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBR7 in concert with EZH2 inhibits the TGF-beta signaling leading to extracellular matrix remodeling.
      Title: UBR7 in concert with EZH2 inhibits the TGF-β signaling leading to extracellular matrix remodeling.
    2. NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T cell acute lymphoblastic leukemia.
      Title: NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T cell acute lymphoblastic leukemia.
    3. UBR7 acts as a histone chaperone for post-nucleosomal histone H3.
      Title: UBR7 acts as a histone chaperone for post-nucleosomal histone H3.
    4. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
      Title: UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
    5. Results established UBR7 as a histone H2B monoubiquitin ligase that suppresses tumorigenesis and metastasis of triple-negative breast cancer.
      Title: Atypical plant homeodomain of UBR7 functions as an H2BK120Ub ligase and breast tumor suppressor.
    6. These data provide the first evidence of ubiquitin ligase activity in mammalian spermatozoa and indicate UBR7 involvement in spermiogenesis.
      Title: Identification and characterization of RING-finger ubiquitin ligase UBR7 in mammalian spermatozoa.
    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

    Associated conditions

    Description Tests
    Li-Campeau syndrome
    MedGen: C5543068 OMIM: 619189 GeneReviews: Not available
    		not available

    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

    Potential readthrough

    Included gene: LYSET

    Homology

    Clone Names

    • MGC9518, FLJ10483

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative E3 ubiquitin-protein ligase UBR7
    Names
    N-recognin-7
    RING-type E3 ubiquitin transferase UBR7
    ubiquitin protein ligase E3 component n-recognin 7 (putative)
    NP_786924.2

    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.

    Genomic

    1. NG_051089.1 RefSeqGene

      Range
      5201..27160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175748.4 → NP_786924.2  putative E3 ubiquitin-protein ligase UBR7

      See identical proteins and their annotated locations for NP_786924.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      BC051819, DB047433
      Consensus CDS
      CCDS9909.1
      UniProtKB/Swiss-Prot
      Q86U21, Q86UA9, Q8N806, Q96BY0, Q9NVV6
      Related
      ENSP00000013070.6, ENST00000013070.11
      Conserved Domains (2) summary
      cd15542
      Location:134 → 185
      PHD_UBR7; PHD finger found in putative E3 ubiquitin-protein ligase UBR7
      pfam02207
      Location:46 → 113
      zf-UBR; Putative zinc finger in N-recognin (UBR box)

    RNA

    1. NR_038150.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 5' region, compared to variant 2. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC051819, DA158479, DB047433

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      93207256..93229215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      321818..343777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      87439146..87461127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001100417.1: Suppressed sequence

      Description
      NM_001100417.1: This RefSeq was permanently suppressed because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N806.2 GenPept UniProtKB/Swiss-Prot:Q8N806

    Gene LinkOut

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

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