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- Table of Contents
Facts about Leucine-rich glioma-inactivated protein 1.
Ligand for ADAM22 that positively modulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in curbing the creation of MMP1/3 throughout the phosphatidylinositol 3-kinase/ERK pathway.
Human | |
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Gene Name: | LGI1 |
Uniprot: | O95970 |
Entrez: | 9211 |
Belongs to: |
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No superfamily |
ADLTE; ADPAEF; ADPEAF; BB130740; epilepsy, partial; Epitempin; Epitempin-1; EPT; EPTleucine-rich glioma-inactivated protein 1; ETL1; ETL1epitempin-1; IB1099; leucine-rich, glioma inactivated 1; LGI1
Mass (kDA):
63.818 kDA
Human | |
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Location: | 10q23.33 |
Sequence: | 10; NC_000010.11 (93757809..93798174) |
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).
Secreted. Cell junction, synapse. Isoform 1 but not isoform 2 is secreted. Isoform 1 is enriched in the Golgi apparatus while isoform 2 accumulates in the endoplasmic reticulum.
PMID: 9879993 by Chernova O.B., et al. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors.
PMID: 11978770 by Morante-Redolat J.M., et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.