RBCC Red Blood Cell Collection

UBR1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: UBR1
Protein names and data: UBR1_HUMAN , E3 ubiquitin-protein ligase UBR1; 6.3.2.- , N-recognin-1; Ubiquitin-protein ligase E3-alpha-1; Ubiquitin-protein ligase E3-alpha-I Lenght: 1749 a.a.
Mass: 200211 Da
fasta formatted sequence
Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 243800 605981 ) Johanson-Blizzard syndrome (JBS) [MIM:243800]: This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytosol.
Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).

Genetic variants

136 - 136 H -> R (in JBS; prevents proper folding of the UBR-type zinc finger). VAR_024741
596 - 596 K -> M (in dbSNP:rs34568456). VAR_034467 34568456
899 - 899 I -> V (in dbSNP:rs35069201). VAR_052116 35069201
1279 - 1279 G -> S (in JBS). VAR_024742
1548 - 1548 T -> A (in dbSNP:rs3917223). VAR_061822 3917223

Database cross-references

UniProt: Q8IWV7
Ensembl: ENST00000290650
Ensembl: ENST00000382177
Ensembl: ENST00000569066
MIM: 243800
MIM: 605981
neXtProt: NX_Q8IWV7
Antibodypedia: Q8IWV7 (may not find the protein thus also not any antibody)
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