LGI3
entrez
203190
canonical
uniprot
Q8N145
canonical
ensembl
ENSG00000168481
resolver
ensp
ENSP00000302297
resolver
genesymbol
LGI3
resolver
genesymbol_syn
LGIL4
resolver
hgnc
HGNC:18711
resolver
uniprot
A5PLP2
resolver
uniprot
Q86TL4
resolver
uniprot
Q8N296
resolver
uniprot_entry
LGI3_HUMAN
resolver
uniprot_sec
A5PLP2
resolver
uniprot_sec
Q86TL4
resolver
uniprot_sec
Q8N296
resolver
amino_acid_sequence
MAGLRARGGPGPGLLALSALGFCLMLQVSAKRPPKTPPCPPSCSCTRDTAFCVDSKAVPRNLPSEVISLTLVNAAFSEIQDGAFSHLPLLQFLLLNSNKFTLIGDNAFTGLSHLQYLFIENNDIWALSKFTFRGLKSLTHLSLANNNLQTLPRDIFRPLDILNDLDLRGNSLNCDCKVKWLVEWLAHTNTTVAPIYCASPPRFQEHKVQDLPLREFDCITTDFVLYQTLAFPAVSAEPFLYSSDLYLALAQPGVSACTILKWDYVERQLRDYDRIPAPSAVHCKPMVVDSQLYVVVAQLFGGSYIYHWDPNTTRFTRLQDIDPQRVRKPNDLEAFRIDGDWYFAVADSSKAGATSLYRWHQNGFYSHQALHPWHRDTDLEFVDGEGKPRLIVSSSSQAPVIYQWSRTQKQFVAQGEVTQVPDAQAVKHFRAGRDSYLCLSRYIGDSKILRWEGTRFSEVQALPSRGSLALQPFLVGGRRYLALGSDFSFTQIYQWDEGRQKFVRFQELAVQAPRAFCYMPAGDAQLLLAPSFKGQTLVYRHIVVDLSA
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (IDDMDS) [MIM:620007]: An autosomal recessive disorder characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. {ECO:0000269|PubMed:35948005}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May participate in the regulation of neuronal exocytosis. {ECO:0000250}.
uniprot
proteins
mass_dalton
61704
uniprot
proteins
pubmed
12023020
uniprot
proteins
pubmed
12095917
uniprot
proteins
pubmed
12217514
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
35948005
uniprot
proteins
sequence_length
548
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:35948005}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250|UniProtKB:Q8K406}. Synapse, synaptosome {ECO:0000250|UniProtKB:Q8K406}. Cell projection, axon {ECO:0000250|UniProtKB:Q8K406}. Note=Found in the synaptosomal membrane fraction. Within peripheral myelinated axons, LGI3 is highly expressed at the juxtaparanodal membrane and colocalizes with the voltage-gated potassium channels Kv1.1 (KCNA1) and Kv1.2 (KCNA2), and with CNTNAP2, DLG4, ADAM22 and ADAM23 (By similarity). {ECO:0000250|UniProtKB:Q8K406}.
uniprot
proteins