| URN | urn:agi-llid:2725 |
|---|---|
| Total Entities | 0 |
| Connectivity | 234 |
| Name | Optn |
| Description | optineurin |
| Notes | This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] |
| GO Molecular Function | protein C-terminus binding |
|---|---|
| TFIIIA-class transcription factor binding | |
| ubiquitin binding |
| GO Cellular Component | Golgi membrane |
|---|---|
| nucleoplasm | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| perinuclear region of cytoplasm | |
| cytoplasmic vesicle | |
| cytoplasmic membrane-bounded vesicle | |
| trans-Golgi network |
| GO Biological Process | cytokine secretion |
|---|---|
| cell death | |
| G2-M transition of mitotic cell cycle | |
| mitotic cell cycle | |
| signal transduction | |
| negative regulation of neuron apoptotic process | |
| positive regulation of cell proliferation | |
| Golgi to plasma membrane protein transport | |
| protein targeting to Golgi | |
| wound healing | |
| Golgi organization | |
| Golgi ribbon formation | |
| protein homooligomerization | |
| cellular protein localization |
| Pathway | Dysregulation of Endosomal Trafficking in Amyotrophic Lateral Sclerosis |
|---|---|
| Proteins Involved in Pathogenesis of Amyotrophic Lateral Sclerosis | |
| TNF/TP53/ATF Expression Targets | |
| mitochondrial autophagy pathway |
| Group | cytokine secretion |
|---|---|
| cell death | |
| G2-M transition of mitotic cell cycle | |
| mitotic cell cycle | |
| signal transduction | |
| negative regulation of neuron apoptotic process | |
| positive regulation of cell proliferation | |
| Golgi to plasma membrane protein transport | |
| protein targeting to Golgi | |
| wound healing | |
| Golgi organization | |
| Golgi ribbon formation | |
| protein homooligomerization | |
| cellular protein localization | |
| protein C-terminus binding | |
| TFIIIA-class transcription factor binding | |
| ubiquitin binding | |
| Golgi membrane | |
| nucleoplasm | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| perinuclear region of cytoplasm | |
| cytoplasmic vesicle | |
| cytoplasmic membrane-bounded vesicle | |
| trans-Golgi network | |
| Genes with Mutations Associated with Amyotrophic Lateral Sclerosis | |
| Secreted proteins |
| LocusLink ID | 2725 |
|---|---|
| 10133 | |
| 71648 | |
| 246294 |
| Cell Localization | Cytoplasm |
|---|---|
| Perinuclear region | |
| Golgi apparatus | |
| Trans-Golgi network |
| GO ID | 0008022 |
|---|---|
| 0000086 | |
| 0007030 | |
| 0090161 | |
| 0043001 | |
| 0008219 | |
| 0000278 | |
| 0000042 | |
| 0007165 | |
| 0005794 | |
| 0000139 | |
| 0005737 | |
| 0005829 | |
| 0005654 | |
| 0048471 | |
| 0005802 | |
| 0001155 | |
| 0034613 | |
| 0051260 | |
| 0016023 | |
| 0043130 | |
| 0050663 | |
| 0043524 | |
| 0008284 | |
| 0042060 | |
| 0031410 |
| Alias | NRP |
|---|---|
| FIP2 | |
| HIP7 | |
| HYPL | |
| ALS12 | |
| GLC1E | |
| TFIIIA-INTP | |
| RP11-730A19.1 | |
| optineurin | |
| FIP-2 | |
| HIP-7 | |
| nemo-related protein | |
| huntingtin yeast partner L | |
| E3-14.7K-interacting protein | |
| Huntingtin interacting protein L | |
| huntingtin-interacting protein 7 | |
| huntingtin-interacting protein L | |
| optic neuropathy-inducing protein | |
| transcrption factor IIIA-interacting protein | |
| transcription factor IIIA-interacting protein | |
| tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains | |
| 4930441O07Rik | |
| RP23-379M5.2 | |
| FIP-2-like protein | |
| 14.7K-interacting protein 2 | |
| glaucoma 1 gene | |
| OTTMUSP00000011649 | |
| OTTMUSP00000011650 | |
| transcrption factor IIIA-interactive protein | |
| tumour necrosis factor alpha-inducible cellular protein containing leucine zipper domains | |
| optic neuropathy inducing protein | |
| NRP/FIP2 | |
| NRP/Optineurin | |
| OTTHUMP00000019129 | |
| Huntingtin interactive protein L | |
| 4930441O07 | |
| glaucoma 1, open angle, E (adult-onset) | |
| OTTHUMP00000019128 | |
| OPTN | |
| OTTHUMP00000019125 | |
| OTTHUMP00000019126 | |
| OTTHUMP00000019127 |
| Mouse chromosome position | 2 3.15 cM |
|---|
| OMIM ID | 602432 |
|---|---|
| 613435 | |
| 606657 | |
| 137760 |
| Rat chromosome position | 17q12.3 |
|---|
| Hugo ID | 17142 |
|---|
| Human chromosome position | 10p13 |
|---|
| Swiss-Prot Accession | Q96CV9 |
|---|---|
| Q8K3K8 | |
| Q8R5M4 | |
| A2ASP3 | |
| B3KP00 | |
| D3DRS4 | |
| D3DRS8 | |
| Q5T672 | |
| Q5T673 | |
| Q5T674 | |
| Q5T675 | |
| Q7LDL9 | |
| Q8N562 | |
| Q9UET9 | |
| Q9UEV4 | |
| Q9Y218 | |
| Q5PQX8 |
| Unigene ID | Hs.332706 |
|---|---|
| Mm.116942 | |
| Rn.63435 |
| KEGG ID | hsa:10133 |
|---|---|
| mmu:71648 | |
| rno:246294 |
| Swiss-Prot ID | OPTN_MOUSE |
|---|---|
| OPTN_HUMAN | |
| OPTN_RAT |
| Ensembl ID | ENSG00000123240 |
|---|---|
| ENSP00000368022 | |
| ENST00000378748 | |
| ENSP00000368021 | |
| ENST00000378747 | |
| ENSP00000368032 | |
| ENST00000378757 | |
| ENSP00000368027 | |
| ENST00000378752 | |
| ENSMUSG00000026672 | |
| ENSMUSP00000027986 | |
| ENSMUST00000027986 | |
| ENSMUSP00000110648 | |
| ENSMUST00000114996 | |
| ENSRNOG00000017941 | |
| ENSRNOP00000045795 | |
| ENSRNOT00000042881 |
| Homologene ID | 11085 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1918898 |
|---|
| RGD ID | 628886 |
|---|
| MedScan ID | 2725 |
|---|