Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
bladder | 100% | 4528.76 | 21 / 21 | 100% | 121.86 | 504 / 504 |
intestine | 100% | 5184.47 | 966 / 966 | 100% | 136.85 | 527 / 527 |
liver | 100% | 5453.87 | 226 / 226 | 100% | 92.02 | 406 / 406 |
lung | 100% | 5544.46 | 578 / 578 | 100% | 138.20 | 1155 / 1155 |
ovary | 100% | 4955.74 | 180 / 180 | 100% | 114.33 | 430 / 430 |
prostate | 100% | 5792.05 | 245 / 245 | 100% | 166.48 | 502 / 502 |
skin | 100% | 7383.84 | 1809 / 1809 | 100% | 124.50 | 472 / 472 |
stomach | 100% | 4969.52 | 359 / 359 | 100% | 131.73 | 286 / 286 |
thymus | 100% | 6097.07 | 653 / 653 | 100% | 93.90 | 605 / 605 |
uterus | 100% | 4687.54 | 170 / 170 | 100% | 109.85 | 459 / 459 |
esophagus | 100% | 4479.26 | 1444 / 1445 | 100% | 137.06 | 183 / 183 |
brain | 100% | 5437.40 | 2640 / 2642 | 100% | 121.64 | 705 / 705 |
breast | 100% | 5792.12 | 459 / 459 | 100% | 170.46 | 1117 / 1118 |
kidney | 100% | 5708.55 | 89 / 89 | 100% | 90.15 | 900 / 901 |
adrenal gland | 100% | 8372.77 | 258 / 258 | 100% | 94.81 | 229 / 230 |
pancreas | 100% | 4124.82 | 328 / 328 | 99% | 100.99 | 177 / 178 |
adipose | 100% | 5073.63 | 1204 / 1204 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 92.46 | 29 / 29 |
peripheral blood | 100% | 8987.41 | 929 / 929 | 0% | 0 | 0 / 0 |
spleen | 100% | 5461.05 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 94.00 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 69.42 | 1 / 1 |
blood vessel | 100% | 4053.84 | 1334 / 1335 | 0% | 0 | 0 / 0 |
muscle | 100% | 4347.59 | 802 / 803 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 99% | 83.02 | 79 / 80 |
heart | 96% | 3460.17 | 827 / 861 | 0% | 0 | 0 / 0 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
GO_0008285 | Biological process | negative regulation of cell population proliferation |
GO_0046986 | Biological process | negative regulation of hemoglobin biosynthetic process |
GO_0030225 | Biological process | macrophage differentiation |
GO_0140468 | Biological process | HRI-mediated signaling |
GO_0060586 | Biological process | multicellular organismal-level iron ion homeostasis |
GO_0002526 | Biological process | acute inflammatory response |
GO_0051649 | Biological process | establishment of localization in cell |
GO_1990641 | Biological process | response to iron ion starvation |
GO_0045993 | Biological process | negative regulation of translational initiation by iron |
GO_0010998 | Biological process | regulation of translational initiation by eIF2 alpha phosphorylation |
GO_0006909 | Biological process | phagocytosis |
GO_0046501 | Biological process | protoporphyrinogen IX metabolic process |
GO_1901526 | Biological process | positive regulation of mitophagy |
GO_0046777 | Biological process | protein autophosphorylation |
GO_0140467 | Biological process | integrated stress response signaling |
GO_0010999 | Biological process | regulation of eIF2 alpha phosphorylation by heme |
GO_0005634 | Cellular component | nucleus |
GO_0005829 | Cellular component | cytosol |
GO_0005737 | Cellular component | cytoplasm |
GO_0042803 | Molecular function | protein homodimerization activity |
GO_0106310 | Molecular function | protein serine kinase activity |
GO_0004694 | Molecular function | eukaryotic translation initiation factor 2alpha kinase activity |
GO_0020037 | Molecular function | heme binding |
GO_0005524 | Molecular function | ATP binding |
GO_0005515 | Molecular function | protein binding |
Gene name | EIF2AK1 |
Protein name | Eukaryotic translation initiation factor 2-alpha kinase 1 (EC 2.7.11.1) (Heme-controlled repressor) (HCR) (Heme-regulated eukaryotic initiation factor eIF-2-alpha kinase) (Heme-regulated inhibitor) (hHRI) (Hemin-sensitive initiation factor 2-alpha kinase) Eukaryotic translation initiation factor 2 alpha kinase 1 |
Synonyms | HRI KIAA1369 PRO1362 |
Description | FUNCTION: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions . Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as heme deficiency, oxidative stress, osmotic shock, mitochondrial dysfunction and heat shock . EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming . Acts as a key sensor of heme-deficiency: in normal conditions, binds hemin via a cysteine thiolate and histidine nitrogenous coordination, leading to inhibit the protein kinase activity (By similarity). This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell: heme depletion relieves inhibition and stimulates kinase activity, activating the ISR (By similarity). Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions (By similarity). In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties (By similarity). It thereby plays an essential protective role for RBC survival in anemias of iron deficiency (By similarity). Iron deficiency also triggers activation by full-length DELE1 . Also activates the ISR in response to mitochondrial dysfunction: HRI/EIF2AK1 protein kinase activity is activated upon binding to the processed form of DELE1 (S-DELE1), thereby promoting the ATF4-mediated reprogramming . . |
Accessions | H7C033 ENST00000422786.1 Q9BQI3 F8WCM0 ENST00000431744.5 ENST00000199389.11 [Q9BQI3-1] C9J7U7 ENST00000446699.1 |