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Details on Person UniProt:O95970 LGI1
| Class:Id | ReferenceGeneProduct:94401 |
|---|---|
| _chainChangeLog | signal peptide:1-34 added on Fri February 6 2015;chain:35-557 added on Fri February 6 2015 |
| _displayName | UniProt:O95970 LGI1 |
| _timestamp | 2024-11-03 20:15:06 |
| chain | signal peptide:1-34 chain:35-557 |
| checksum | 890EEDA08D95C854 |
| comment | FUNCTION Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival.SUBUNIT Oligomer. Interacts with KCNA1 within a complex containing KCNA1, KCNA4 and KCNAB1. Part of a complex containing ADAM22, DLG4/PSD95 and CACNG2/Stargazin (PubMed:27066583). Can bind to ADAM11 and ADAM23.SUBCELLULAR LOCATION Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas.TISSUE SPECIFICITY Expressed in the occipital cortex and hippocampus; higher amounts are observed in the parietal and frontal cortices, putamen, and, particularly, in the temporal neocortex, where it is between 3 and 5 times more abundant than in the hippocampus (at protein level) (PubMed:16787412). Expression is absent in the cerebellum (PubMed:16787412).TISSUE SPECIFICITY Abundantly expressed in the occipital cortex and weakly expressed in the hippocampus (at protein level).INDUCTION Down-regulated in neuroblastoma cells.PTM Glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry. |
| description | recommendedName: Leucine-rich glioma-inactivated protein 1 alternativeName: Epitempin-1 |
| geneName | LGI1 EPT UNQ775/PRO1569 |
| identifier | O95970 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cytoplasm Disease variant Endoplasmic reticulum Epilepsy Glycoprotein Golgi apparatus Leucine-rich repeat Proteomics identification Reference proteome Repeat Secreted Signal Synapse |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | LGI1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9003032] ENSEMBL:ENSG00000108231 LGI1 [Homo sapiens] |
| secondaryIdentifier | LGI1_HUMAN A8K0Z1 B4E1S0 Q5W001 Q5W002 Q8NI23 Q96LF5 |
| sequenceLength | 557 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:149633] UniProt:O95970-2 LGI1 [Homo sapiens] [ReferenceIsoform:402196] UniProt:O95970-1 LGI1 [Homo sapiens] [ReferenceIsoform:8973328] UniProt:O95970-3 LGI1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:5678671] LGI1 [extracellular region] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:O95970 LGI1 (94401)
