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

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.
Title: Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.
Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress.
Title: Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress.
UBR1 mutations of single or multi-exon deletions or duplications account for a substantial proportion of Johanson-Blizzard syndrome.
Title: Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
The frequency of any non-synonymous or synonymous variants was not different between the patients with chronic pancreatitis and controls
Title: Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.
Reduced UBR1 expression affects MGMT turnover and DNA repair in the smokers lungs.
Title: Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.
For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.
Title: Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Testing the fetus and the affected sibling with recurrent Johanson-Blizzard syndrome revealed a homozygous truncating mutation in UBR1.
Title: Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.
Results confirmed the relevance of specific missense UBR1 alleles to JBS, and suggested that a residual activity of a missense allele is causally associated with milder variants of JBS.
Title: Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome.
Title: Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
Ubc2/Rad6 ser(120) regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1
Title: Ser(120) of Ubc2/Rad6 regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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
Johanson-Blizzard syndrome MedGen: C0175692 OMIM: 243800 GeneReviews: Pancreatitis Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008V23 (e-PCR)
- UniSTS:31016

G17873 (e-PCR)
- UniSTS:36944

SHGC-132955 (e-PCR)
- UniSTS:182866

SHGC-58004 (e-PCR)
- UniSTS:74070

RH102830 (e-PCR)
- UniSTS:97164

WI-15137 (e-PCR)
- UniSTS:6542

SHGC-68631 (e-PCR)
- UniSTS:182929

RH93131 (e-PCR)
- UniSTS:84691

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-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 L-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

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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

EC 2.3.2.27

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.