UBR1 - ubiquitin protein ligase E3 component n-recognin 1 Gene

Homo sapiens

Also known as JBS

Gene ID: 197131 | Gene type: protein coding

About UBR1

Cytogenetic location: 15q15.2 Genomic coordinates (GRCh38): 15:42,942,897-43,106,038 (from NCBI)

This gene has 12 transcripts (splice variants), 219 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 7.4), endometrium (RPKM 6.3) and 25 other tissues.

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]

UBR1 Products(1)

mRNA	Protein	Name
NM_174916.3	NP_777576.1	E3 ubiquitin-protein ligase UBR1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables L-leucine binding	IDA IDA: Inferred from direct assay	20298436	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	15548684	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to L-leucine	IDA IDA: Inferred from direct assay	20298436	GOA
involved in negative regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	20298436	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	15548684	GOA
involved in ubiquitin-dependent protein catabolic process via the N-end rule pathway	IDA IDA: Inferred from direct assay	16311597	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in cytosol	IDA IDA: Inferred from direct assay	16311597	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBR1 Protein Structure

zf-UBR

ClpS

0
300
600
900
1200
1500
1749 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase UBR1

E3a ligase

Related Diseases

Diseases

Alias

Johanson-Blizzard Syndrome

JBS	Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness	Johanson Blizzard Syndrome

Exocrine Pancreatic Insufficiency

Pancreatitis

Mumps Pancreatitis

Rapadilino Syndrome

Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate	Radial And Patellar Aplasia
Radial And Patellar Hypoplasia	RAPADILINOS

Retinitis Pigmentosa 61

RP61	Retinitis Pigmentosa, Type 61

Anus, Imperforate

Imperforate Anus	Anorectal Malformation
Anal Atresia	Anorectal Malformations
Congenital Atresia Of Anus	Congenital Or Infantile Occlusion Of Anus
Anal Stenosis	Arm

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15386	UBR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UBR1	MGD	MGI:1277977
Canis familiaris	UBR1	VGNC	VGNC:48089
Macaca mulatta	UBR1	VGNC	VGNC:79051
Rattus norvegicus	UBR1	RGD	RGD:1562326
Felis catus	UBR1	VGNC	VGNC:66784
Bos taurus	UBR1	VGNC	VGNC:36616

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