Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.6.5.-
Hydrolases;
Acting on acid anhydrides;
Acting on GTP to facilitate cellular and subcellular movement;
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 4V6X | 5.0 | Structure of the human 80S ribosome |
| 6D9J | 3.2 | Mammalian 80S ribosome with a double translocated CrPV-IRES, P-sitetRNA and eRF1. |
| 6Z6M | 3.1 | Cryo-EM structure of human 80S ribosomes bound to EBP1, eEF2 and SERBP1 |
| 6Z6N | 2.9 | Cryo-EM structure of human EBP1-80S ribosomes (focus on EBP1) |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0002244 | hematopoietic progenitor cell differentiation |
| Biological Process | GO:0045727 | positive regulation of translation |
| Biological Process | GO:0006414 | translational elongation |
| Molecular Function | GO:0005525 | GTP binding |
| Molecular Function | GO:0003924 | GTPase activity |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0019901 | protein kinase binding |
| Molecular Function | GO:0043022 | ribosome binding |
| Molecular Function | GO:0003746 | translation elongation factor activity |
| Cellular Component | GO:0016235 | aggresome |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:1904813 | ficolin-1-rich granule lumen |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0005844 | polysome |
| Cellular Component | GO:1990904 | ribonucleoprotein complex |
| Cellular Component | GO:0034774 | secretory granule lumen |
| Cellular Component | GO:0045202 | synapse |
| InterPro
|
InterPro name |
|---|---|
| IPR000640 | Elongation factor EFG, domain V-like |
| IPR000795 | Translational (tr)-type GTP-binding domain |
| IPR004161 | Translation elongation factor EFTu-like, domain 2 |
| IPR005225 | Small GTP-binding protein domain |
| IPR005517 | Translation elongation factor EFG/EF2, domain IV |
| IPR009000 | Translation protein, beta-barrel domain superfamily |
| IPR014721 | Ribosomal protein S5 domain 2-type fold, subgroup |
| IPR020568 | Ribosomal protein S5 domain 2-type fold |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR031157 | Tr-type G domain, conserved site |
| IPR035647 | EF-G domain III/V-like |
| IPR041095 | Elongation Factor G, domain II |
| Pfam
|
Pfam name |
|---|---|
| PF00009 | Elongation factor Tu GTP binding domain |
| PF00679 | Elongation factor G C-terminus |
| PF03144 | Elongation factor Tu domain 2 |
| PF03764 | Elongation factor G, domain IV |
| PF14492 | Elongation Factor G, domain III |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-156902 | Peptide chain elongation | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-5336415 | Uptake and function of diphtheria toxin | Leaf | R-HSA-1643685 | Disease |
| R-HSA-5358493 | Synthesis of diphthamide-EEF2 | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| R-HSA-8876725 | Protein methylation | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:25064856 |
| Nucleus | ECO:0000269 | PubMed:24648518 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000639 | Nystagmus |
| HP:0000641 | Dysmetric saccades |
| HP:0001151 | Impaired horizontal smooth pursuit |
| HP:0001250 | Seizure |
| HP:0001260 | Dysarthria |
| HP:0001272 | Cerebellar atrophy |
| HP:0002066 | Gait ataxia |
| HP:0002070 | Limb ataxia |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0002078 | Truncal ataxia |
| HP:0002311 | Incoordination |
| HP:0002380 | Fasciculations |
| HP:0003470 | Paralysis |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0003487 | Babinski sign |
| HP:0003581 | Adult onset |
| HP:0003677 | Slowly progressive |
| HP:0007034 | Generalized hyperreflexia |
| HP:0007240 | Progressive gait ataxia |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Enhanced |
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | High | Enhanced |
| appendix | lymphoid tissue | High | Enhanced |
| bone marrow | hematopoietic cells | High | Enhanced |
| breast | adipocytes | Low | Enhanced |
| breast | glandular cells | High | Enhanced |
| breast | myoepithelial cells | High | Enhanced |
| bronchus | respiratory epithelial cells | High | Enhanced |
| caudate | glial cells | Medium | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | Medium | Enhanced |
| cerebellum | cells in granular layer | Low | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | endothelial cells | Medium | Enhanced |
| cerebral cortex | glial cells | High | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cerebral cortex | neuropil | Medium | Enhanced |
| cervix | squamous epithelial cells | High | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| duodenum | glandular cells | High | Enhanced |
| endometrium 1 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | cells in endometrial stroma | High | Enhanced |
| endometrium 2 | glandular cells | High | Enhanced |
| epididymis | glandular cells | High | Enhanced |
| esophagus | squamous epithelial cells | High | Enhanced |
| fallopian tube | glandular cells | High | Enhanced |
| gallbladder | glandular cells | High | Enhanced |
| heart muscle | cardiomyocytes | Medium | Enhanced |
| hippocampus | glial cells | Medium | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | cells in glomeruli | Low | Enhanced |
| kidney | cells in tubules | High | Enhanced |
| liver | cholangiocytes | Low | Enhanced |
| liver | hepatocytes | Medium | Enhanced |
| lung | alveolar cells | High | Enhanced |
| lung | macrophages | High | Enhanced |
| lymph node | germinal center cells | High | Enhanced |
| lymph node | non-germinal center cells | High | Enhanced |
| nasopharynx | respiratory epithelial cells | High | Enhanced |
| oral mucosa | squamous epithelial cells | Medium | Enhanced |
| ovary | follicle cells | High | Enhanced |
| ovary | ovarian stroma cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | High | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | decidual cells | High | Enhanced |
| placenta | trophoblastic cells | Medium | Enhanced |
| prostate | glandular cells | High | Enhanced |
| rectum | glandular cells | High | Enhanced |
| salivary gland | glandular cells | High | Enhanced |
| seminal vesicle | glandular cells | High | Enhanced |
| skeletal muscle | myocytes | Medium | Enhanced |
| skin 1 | Langerhans | High | Enhanced |
| skin 1 | fibroblasts | High | Enhanced |
| skin 1 | keratinocytes | High | Enhanced |
| skin 1 | melanocytes | High | Enhanced |
| skin 2 | epidermal cells | High | Enhanced |
| small intestine | glandular cells | High | Enhanced |
| smooth muscle | smooth muscle cells | Low | Enhanced |
| soft tissue 1 | chondrocytes | Medium | Enhanced |
| soft tissue 1 | fibroblasts | High | Enhanced |
| soft tissue 2 | fibroblasts | High | Enhanced |
| soft tissue 2 | peripheral nerve | Low | Enhanced |
| spleen | cells in red pulp | Medium | Enhanced |
| spleen | cells in white pulp | High | Enhanced |
| stomach 1 | glandular cells | High | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | High | Enhanced |
| testis | cells in seminiferous ducts | High | Enhanced |
| thyroid gland | glandular cells | High | Enhanced |
| tonsil | germinal center cells | High | Enhanced |
| tonsil | non-germinal center cells | High | Enhanced |
| tonsil | squamous epithelial cells | High | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| vagina | squamous epithelial cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| spinocerebellar ataxia type 26 | MONDO:0012246 | G11 | chapter6, Diseases of the nervous system | OMIM:609306 | Orphanet:101112 |