LGI1
entrez
9211
canonical
uniprot
O95970
canonical
ensembl
ENSG00000108231
resolver
ensp
ENSP00000360467
resolver
ensp
ENSP00000360472
resolver
ensp
ENSP00000485917
resolver
ensp
ENSP00000490058
resolver
ensp
ENSP00000722612
resolver
enst
ENST00000635953
resolver
genesymbol
LGI1
resolver
genesymbol_syn
EPT
resolver
hgnc
HGNC:6572
resolver
uniprot
A0A0S2Z4S7
resolver
uniprot
A0A0S2Z4X3
resolver
uniprot
A0A0S2Z5G1
resolver
uniprot
A0A1B0GUD3
resolver
uniprot
A8K0Z1
resolver
uniprot
B4E1S0
resolver
uniprot
Q5W001
resolver
uniprot
Q5W002
resolver
uniprot
Q8NI23
resolver
uniprot
Q96LF5
resolver
uniprot_entry
A0A0S2Z4S7_HUMAN
resolver
uniprot_entry
A0A0S2Z4X3_HUMAN
resolver
uniprot_entry
A0A0S2Z5G1_HUMAN
resolver
uniprot_entry
A0A1B0GUD3_HUMAN
resolver
uniprot_entry
LGI1_HUMAN
resolver
uniprot_sec
A8K0Z1
resolver
uniprot_sec
B4E1S0
resolver
uniprot_sec
Q5W001
resolver
uniprot_sec
Q5W002
resolver
uniprot_sec
Q8NI23
resolver
uniprot_sec
Q96LF5
resolver
amino_acid_sequence
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269|PubMed:11810107, ECO:0000269|PubMed:11978770, ECO:0000269|PubMed:12205652, ECO:0000269|PubMed:12601709, ECO:0000269|PubMed:12771268, ECO:0000269|PubMed:15079010, ECO:0000269|PubMed:17067999, ECO:0000269|PubMed:17296837, ECO:0000269|PubMed:17562837, ECO:0000269|PubMed:18625862, ECO:0000269|PubMed:19191227, ECO:0000269|PubMed:19552651}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 121 (DEE121) [MIM:621475]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE121 is an autosomal recessive form characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability. Death in infancy, childhood, or early adulthood is frequent. {ECO:0000269|PubMed:40455867, ECO:0000269|PubMed:41000458}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:15047712). {ECO:0000250, ECO:0000269|PubMed:15047712}.
uniprot
proteins
mass_dalton
63818
uniprot
proteins
mutagenesis
MUTAGEN 192; /note="N->Q: Affects glycosylation; when associated with Q-277 and Q-422. Loss of protein secretion; when associated with Q-277 and Q-422."; /evidence="ECO:0000269|PubMed:17067999"; MUTAGEN 277; /note="N->Q: Affects glycosylation; when associated with Q-192 and Q-422. Loss of protein secretion; when associated with Q-192 and Q-422."; /evidence="ECO:0000269|PubMed:17067999"; MUTAGEN 422; /note="N->Q: Affects glycosylation; when associated with Q-192 and Q-277. Loss of protein secretion; when associated with Q-192 and Q-277."; /evidence="ECO:0000269|PubMed:17067999
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:17067999}.
uniprot
proteins
pubmed
11810107
uniprot
proteins
pubmed
11978770
uniprot
proteins
pubmed
12205652
uniprot
proteins
pubmed
12601709
uniprot
proteins
pubmed
12771268
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15047712
uniprot
proteins
pubmed
15079010
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16518856
uniprot
proteins
pubmed
16787412
uniprot
proteins
pubmed
17067999
uniprot
proteins
pubmed
17296837
uniprot
proteins
pubmed
17562837
uniprot
proteins
pubmed
18625862
uniprot
proteins
pubmed
19191227
uniprot
proteins
pubmed
19552651
uniprot
proteins
pubmed
27066583
uniprot
proteins
pubmed
39221895
uniprot
proteins
pubmed
40455867
uniprot
proteins
pubmed
41000458
uniprot
proteins
pubmed
9879993
uniprot
proteins
sequence_length
557
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16787412, ECO:0000269|PubMed:17067999, ECO:0000269|PubMed:17296837, ECO:0000269|PubMed:40455867}. Synapse {ECO:0000250|UniProtKB:Q8K4Y5}. Cytoplasm {ECO:0000250|UniProtKB:Q9JIA1}.; SUBCELLULAR LOCATION: [Isoform 1]: Golgi apparatus {ECO:0000269|PubMed:17067999}. Secreted {ECO:0000269|PubMed:9879993}. Cytoplasm {ECO:0000250|UniProtKB:Q9JIA1}.; SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum {ECO:0000269|PubMed:17067999}. Cytoplasm {ECO:0000250|UniProtKB:Q9JIA1}.
uniprot
proteins