Disease-gene associations mined from literature

Literature associating GCN1L1 and familial hemophagocytic lymphohistiocytosis 3

GCN1L1 [ENSP00000300648]

GCN1 general control of amino-acid synthesis 1-like 1 (yeast); Acts as a positive activator of the EIF2AK4/GCN2 protein kinase activity in response to amino acid starvation. Forms a complex with EIF2AK4/GCN2 on translating ribosomes; during this process, GCN1 seems to act as a chaperone to facilitate delivery of uncharged tRNAs that enter the A site of ribosomes to the tRNA- binding domain of EIF2AK4/GCN2, and hence stimulating EIF2AK4/GCN2 kinase activity. Participates in the repression of global protein synthesis and in gene-specific mRNA translation activation, such as the transcriptional activator ATF4, by promoting the EIF2AK4/GCN2-mediated phosphorylation of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52', and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion.

Synonyms:  GCN1L1,  GCN1L1p,  hGCN1L1,  B4DM32,  GCN1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM