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

Gene ID: 197131, updated on 24-Nov-2020

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
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

Genomic context

See UBR1 in Genome Data Viewer
Location:
15q15.2
Exon count:
47
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (42942897..43106038, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43235095..43398286, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene tau tubulin kinase 2 Neighboring gene keratin 8 pseudogene 50 Neighboring gene farnesyl diphosphate synthase pseudogene 4 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

Homology

Clone Names

  • MGC142065, MGC142067

Gene Ontology Provided by GOA

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

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)

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
    Q8IWV7
    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: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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