Homo sapiens Protein: EIF2AK4 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-5999.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | EIF2AK4 | ||||||||||||||||||
Protein Name | eukaryotic translation initiation factor 2 alpha kinase 4 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000263791 | ||||||||||||||||||
InnateDB Gene | IDBG-5997 (EIF2AK4) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Can phosphorylate the alpha subunit of EIF2 and may mediate translational control. {ECO:0000250}. | ||||||||||||||||||
Subcellular Localization | |||||||||||||||||||
Disease Associations | Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810]: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. {ECO:0000269PubMed:24135949, ECO:0000269PubMed:24292273}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Widely expressed. Expressed in the lung in smooth muscle cells of the pulmonary vessel wall, interstitial tissue and macrophages. {ECO:0000269PubMed:10504407, ECO:0000269PubMed:24292273}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR004154 Anticodon-binding IPR006575 RWD domain IPR011009 Protein kinase-like domain IPR016135 Ubiquitin-conjugating enzyme/RWD-like IPR016255 Serine/threonine-protein kinase, GCN2 IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF00069
PF07714 PF03129 PF05773 |
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PRINTS |
PR00109
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PIRSF |
PIRSF000660
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SMART |
SM00220
SM00591 SM00219 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9P2K8 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9P2K8 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 440275 | ||||||||||||||||||
UniGene | Hs.656673 | ||||||||||||||||||
RefSeq | NP_001013725 | ||||||||||||||||||
HUGO | HGNC:19687 | ||||||||||||||||||
OMIM | 609280 | ||||||||||||||||||
CCDS | CCDS42016 | ||||||||||||||||||
HPRD | 18447 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB037759 AC012377 AC025168 AJ243428 AK027011 AL137627 AL157497 AL832907 BC009350 BC078179 | ||||||||||||||||||
GenPept | AAH09350 AAH78179 BAA92576 BAB15625 CAB58360 CAB70849 CAB75678 CAH10626 | ||||||||||||||||||