RBCC Red Blood Cell Collection

IRAK4_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: IRAK4
Protein names and data: IRAK4_HUMAN , Interleukin-1 receptor-associated kinase 4; IRAK-4; 2.7.11.1 , Renal carcinoma antigen NY-REN-64 Lenght: 460 a.a.
Mass: 51530 Da
fasta formatted sequence
Function: Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor- signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections.
Catalytic activity: ATP + a protein = ADP + a phosphoprotein.
Disease: ( OMIM: 606883 607676 610799 ) Recurrent isolated invasive pneumococcal disease 1 (IPD1) [MIM:610799]: Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD. Note=The disease is caused by mutations affecting the gene represented in this entry. IRAK4 deficiency (IRAK4D) [MIM:607676]: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.

Genetic variants

5 - 5 I -> V (in dbSNP:rs56312115). VAR_040588 56312115
98 - 98 S -> R (in dbSNP:rs4251469). VAR_019354 4251469
355 - 355 M -> V. VAR_040589
390 - 390 H -> R (in dbSNP:rs4251583). VAR_019355 4251583
391 - 391 R -> H (in dbSNP:rs55944915). VAR_040590 55944915
428 - 428 A -> T (in dbSNP:rs4251545). VAR_019356 4251545

Database cross-references

UniProt: Q9NWZ3
Ensembl: ENST00000431837
Ensembl: ENST00000440781
Ensembl: ENST00000448290
Ensembl: ENST00000551736
MIM: 606883
MIM: 607676
MIM: 610799
neXtProt: NX_Q9NWZ3
Antibodypedia: Q9NWZ3 (may not find the protein thus also not any antibody)
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