WDR83
Description
The WDR83 (WD repeat domain 83) is a protein-coding gene located on chromosome 19.
WDR83, a protein encoded by the WDR83 gene, is a member of the WD-40 protein family. It functions as a molecular scaffold for various multimeric protein complexes. WDR83 associates with components of the ERK pathway, promoting ERK activity in response to signals like serum. It interacts with EGLN3/PHD3, regulating HIF1A expression. WDR83 has also been identified as part of the spliceosome. Alternative splicing produces multiple transcript variants.
WDR83, also known as Mitogen-activated protein kinase organizer 1, functions as a molecular scaffold for various multimeric protein complexes. It plays a key role in the ERK pathway, linking ERK responses to specific agonists. At low concentrations, it enhances ERK activation, while at high concentrations, it inhibits ERK activation. WDR83 is also involved in the cellular response to hypoxia, acting as a negative regulator of HIF1A/HIF-1-alpha through its interaction with EGLN3/PHD3. This interaction may promote the degradation of HIF1A. WDR83 may recruit signaling complexes to a specific upstream activator. Additionally, it may be involved in pre-mRNA splicing.
WDR83 is also known as MORG1.
Associated Diseases
- endometrial cancer
- syndromic intellectual disability
- alpha-mannosidosis
- familial juvenile hyperuricemic nephropathy type 1
- autosomal dominant progressive nephropathy with hypertension
- hypoxanthine guanine phosphoribosyltransferase partial deficiency
- karyomegalic interstitial nephritis
- xanthinuria type II
- ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
- adenine phosphoribosyltransferase deficiency
- atypical hemolytic-uremic syndrome with C3 anomaly
- atypical hemolytic-uremic syndrome with B factor anomaly
- atypical hemolytic-uremic syndrome with I factor anomaly
- atypical hemolytic-uremic syndrome with thrombomodulin anomaly
- atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
