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

Gene ID: 55148, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93207256..93229215)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87439146..87461127)
105.20220307 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
  • 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. 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
  2. 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
  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. Identification and characterization of RING-finger ubiquitin ligase UBR7 in mammalian spermatozoa. Zimmerman SW, et al. Cell Tissue Res, 2014 Apr. PMID 24664117

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. UBR7 acts as a histone chaperone for post-nucleosomal histone H3.
    Title: UBR7 acts as a histone chaperone for post-nucleosomal histone H3.
  3. 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.
  4. 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.
  5. 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)

Genotypes

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 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_2023_10

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

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