UBR1 (ubiquitin protein ligase E3 component n-recognin 1)

2015-11-01 Affiliation

Identity

HGNC

UBR1

LOCATION

15q15.2

LOCUSID

197131

ALIAS

JBS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 197131
MIM: 605981
HGNC: 16808
Ensembl: ENSG00000159459

Variants:

dbSNP: 197131
ClinVar: 197131
TCGA: ENSG00000159459
COSMIC: UBR1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000159459	ENST00000290650	Q8IWV7
ENSG00000159459	ENST00000546274	A0A087WTJ9
ENSG00000159459	ENST00000563239	H3BS20
ENSG00000159459	ENST00000564540	H3BUZ4
ENSG00000159459	ENST00000569066	A0A0C4DGM0
ENSG00000159459	ENST00000569243	H3BUC4
ENSG00000159459	ENST00000569337	H3BNQ6
ENSG00000159459	ENST00000569971	H3BQF8
ENSG00000159459	ENST00000627960	H3BNQ6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradation	REACTOME	R-HSA-983168

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
16311597	2005	Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).	67
17018293	2006	Spatiotemporal regulation of c-Fos by ERK5 and the E3 ubiquitin ligase UBR1, and its biological role.	39
18089810	2007	Inhibition of RAS-mediated transformation and tumorigenesis by targeting the downstream E3 ubiquitin ligase seven in absentia homologue.	31
17569795	2007	Thiazolidinediones modulate the expression of beta-catenin and other cell-cycle regulatory proteins by targeting the F-box proteins of Skp1-Cul1-F-box protein E3 ubiquitin ligase independently of peroxisome proliferator-activated receptor gamma.	26
17222803	2007	Negative regulation of ISG15 E3 ligase EFP through its autoISGylation.	18
17462600	2007	Involvement of Rabring7 in EGF receptor degradation as an E3 ligase.	17
21931868	2011	Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.	12
21041297	2010	Ser(120) of Ubc2/Rad6 regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1.	10
19006206	2008	Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.	5
24599544	2014	Mutations in the human UBR1 gene and the associated phenotypic spectrum.	5

Citation

Dessen P

UBR1 (ubiquitin protein ligase E3 component n-recognin 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55519/ubr1