| Gene Symbol | LGI1 |
|---|---|
| Entrez Gene | 9211 |
| Alt Symbol | ADLTE, ADPAEF, ADPEAF, EPITEMPIN, EPT, ETL1, IB1099 |
| Species | Human |
| Gene Type | protein-coding |
| Description | leucine-rich, glioma inactivated 1 |
| Other Description | epitempin-1|leucine-rich glioma-inactivated protein 1 |
| Swissprots | Q5W001 O95970 Q5W002 B4E1S0 Q96LF5 A8K0Z1 Q8NI23 |
| Accessions | CAI93453 EAW50051 EAW50052 EAW50053 O95970 AB209408 BAD92645 AF055636 AAC99316 AF473548 AAM22074 AK289706 BAF82395 AK303956 BAG64882 AK309416 AY358885 AAQ89244 BC022500 AAH22500 DB546258 DC326684 DQ892371 ABM83297 DQ895580 ABM86506 H05384 XM_005270272 XP_005270329 NM_001308275 NP_001295204 NM_001308276 NP_001295205 NM_005097 NP_005088 NR_131777 |
| 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. {ECO:0000250, ECO:0000269|PubMed:15047712, ECO:0000269|PubMed:16518856}. |
| Subcellular Location | Secreted {ECO:0000269|PubMed:16787412, ECO:0000269|PubMed:17067999, ECO:0000269|PubMed:17296837}. Cell junction, synapse {ECO:0000250}. Note=Isoform 1 but not isoform 2 is secreted. Isoform 1 is enriched in the Golgi apparatus while isoform 2 accumulates in the endoplasmic reticulum. |
| Tissue Specificity | Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas. Isoform 1 is absent in the cerebellum and is detectable 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 3.5 times more abundant than in the hippocampus (at protein level). Isoform 3 shows the highest expression in the occipital cortex and the lowest in the hippocampus (at protein level). {ECO:0000269|PubMed:16518856, ECO:0000269|PubMed:16787412}. |