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eukaryotic translation initiation factor 2-alpha kinase 4; GCN2-like protein (EIF2AK4, GCN2, KIAA1338)
Function:
1) phosphorylates alpha subunit of EIF2
2) translational control
3) autophosphorylated on threonine residues (putative)
Structure:
- RWD domain is reported to interact with GCN1L1
- belongs to the protein kinase superfamily, Ser/Thr protein kinase family, GCN2 subfamily
- contains 2 protein kinase domains
- kinase domain 1 is a degenerate kinase domain
- contains 1 RWD domain
Alternative splicing: named isoforms=3
Expression: widely expressed
Pathology:
- EIF2AK4 variants are associated with:
- pulmonary capillary hemangiomatosis
- pulmonary veno-occlusive disease [2]
General
initiation factor
serine/threonine kinase
Properties
SIZE: entity length = 1649 aa
MW = 187 kD
COMPARTMENT: cytoplasm
CELL: most cell types*
ORGANISM: eukaryote*
MOTIF: RWD {25-137}
Ser phosphorylation site {S230}
kinase domain
SITE: 296-539
MOTIF: ATP-binding site
NAME: ATP-binding site
Ser phosphorylation site {S551}
Ser phosphorylation site {S555}
kinase domain
SITE: 590-1001
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 596-604
ATP-binding site
NAME: ATP-binding site
SITE: 619-619
Thr phosphorylation site {T667}
aspartate residue {D848}
Thr phosphorylation site {T899}
Thr phosphorylation site {T904}
Histidyl-tRNA synthetase-like {1022-1493}
STATE: active state
Database Correlations
OMIM 609280
UniProt Q9P2K8
PFAM correlations
Entrez Gene 440275
Kegg hsa:440275
ENZYME 2.7.11.1
References
- UniProt :accession Q9P2K8
- ARUP Consult:
EIF2AK4-Associated Disorders
https://arupconsult.com/ati/eif2ak4-associated-disorders