LGI1 - leucine rich glioma inactivated 1 Gene

Also Known as EPT; ETL1; ADLTE; ADPAEF; ADPEAF; IB1099; EPITEMPIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9211

About LGI1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,757,936-93,798,159 (from NCBI)

This gene has 31 transcripts (splice variants), 340 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 13.8), esophagus (RPKM 1.7) and 3 other tissues.

Summary

This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

LGI1 Products (3)

mRNA	Protein	Name
NM_001308275.2	NP_001295204.1	leucine-rich glioma-inactivated protein 1 isoform 2 precursor
NM_001308276.2	NP_001295205.1	leucine-rich glioma-inactivated protein 1 isoform 3 precursor
NM_005097.4	NP_005088.1	leucine-rich glioma-inactivated protein 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20463223	GOA
NOT enables signaling receptor binding	IPI IPI: Inferred from physical interaction	20463223	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	20463223	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in axon guidance	IMP IMP: Inferred from mutant phenotype	20463223	GOA
involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	20463223	GOA
involved in positive regulation of cell growth	IMP IMP: Inferred from mutant phenotype	20463223	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	17067999	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LGI1 Protein Structure

LRR_8

EPTP

0
100
200
300
400
500
557 a.a.

Protein Preferred Names	Protein Names
leucine-rich glioma-inactivated protein 1	epitempin-1

LGI1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83140	LGI1 Antibody (YA2885)	WB, IHC-P, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Epilepsy, Familial Temporal Lobe, 1	ETL1 Adpeaf Adlte Epilepsy, Partial, With Auditory Features Autosomal Dominant Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Familial Temporal Lobe Epilepsy 1 Partial Epilepsy With Auditory Features Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral Temporal Lobe Epilepsy Autosomal Dominant Epilepsy, Temporal Lobe, Familial, Type 1
Autosomal Dominant Epilepsy With Auditory Features	Adeaf Adlte Autosomal Dominant Lateral Temporal Epilepsy Adpeaf Autosomal Dominant Lateral Temporal Lobe Epilepsy Partial Epilepsy With Auditory Aura Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
Kat6b-Related Multiple Congenital Anomalies Syndrome	Kat6b-Related Disorder Kat6b-Related Disorders
Genitopatellar Syndrome	GTPTS Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, And Mental Retardation Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome Gps
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Temporal Lobe Epilepsy	Epilepsy, Temporal Lobe Epilepsy Temporal Lobe
Limbic Encephalitis
Autoimmune Epilepsy
La Crosse Encephalitis	California Encephalitis California Virus Encephalitis Neuroinvasive California Encephalitis Virus Infection Californian Encephalitis Encephalitis, California California Meningoencephalitis California Encephalitis Virus Infection California Encephalitis Virus Infection Neuroinvasive Disease California Meningoencephalitis Virus Disease California Serogroup Virus Neuroinvasive Disease California Viral Encephalitis Ce - [California Encephalitis] Lac - [La Crosse Encephalitis]
Glioma
Postinfectious Encephalitis	Postinfective Encephalitis Secondary Encephalitis
Status Epilepticus	Grand Mal Status Epilepticus Grand Mal Status Gcse Generalized Convulsive Status Epilepticus Se Epilepsy With Status Epilepticus
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Anterograde Amnesia	Amnesia, Anterograde
Lingual-Facial-Buccal Dyskinesia	Orofacial Dyskinesia Oro-Facial Dyskinesia Dyskinesias
Epilepsy, Familial Temporal Lobe, 3	Epilepsy, Familial Mesial Temporal Lobe Fmtle Familial Temporal Lobe Epilepsy 3 ETL3 Familial Mesial Temporal Lobe Epilepsy
Acute Disseminated Encephalomyelitis	Acute Disseminated Encephalitis Adem Ade Encephalomyelitis Acute Disseminated Encephalomyelitis, Acute Disseminated Adem - [Acute Disseminated Encephalomyelitis]
Chorea Gravidarum
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Transient Global Amnesia	Amnesia, Transient Global
Encephalitis	Mumps Encephalitis Mumps Meningoencephalitis Herpes Simplex Neuroinvasion Herpetic Encephalitis Herpetic Encephalopathy Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis Encephalitis Due To Herpesviridae Encephalitis Due To Herpesvirus Herpes Encephalitis Herpesviral Encephalitis Herpes Simplex Encephalitis Hsv - [Herpes Simplex Virus] Encephalitis Herpes Virus Encephalitis Simian B Disease Simian B Disorder Encephalitis Nec Idiopathic Encephalitis
Epilepsy, Familial Temporal Lobe, 7	Familial Temporal Lobe Epilepsy 7 ETL7 Epilepsy, Temporal Lobe, Familial, Type 7
Arthrogryposis Multiplex Congenita-1
Amnestic Disorder	Amnesia Amnestic Syndrome Korsakoff'S Psychosis Or Syndrome Amnesic Syndrome Amnestic Disorder In Conditions Classified Elsewhere Korsakoff Psychosis Or Syndrome, Nonalcoholic Nonalcoholic Organic Amnesic Syndrome Organic Amnesic Syndrome
Mutism
Von Economo'S Disease	Encephalitis Lethargica Von Economo Encephalitis Von Economo Disease
Viral Encephalitis	Epidemic Encephalitis Encephalitis Viral Encephalitis, Arbovirus Arbovirus Encephalitis Postviral Encephalitis Nos Equine Encephalitis Tick-Borne Encephalitis Viral Encephalitis Transmitted By Tick Mosquito-Borne Encephalitis Acute Haemorrhagic Encephalitis Acute Idiopathic Encephalitis Chronic Viral Encephalitis Endemic Encephalitis Subacute Viral Encephalitis Viral Haemorrhagic Encephalitis Viral Nonepidemic Encephalitis Nonepidemic Encephalitis
Autoimmune Disease Of Peripheral Nervous System
Inappropriate Adh Syndrome	Syndrome Of Inappropriate Antidiuretic Hormone Secretion Syndrome Of Inappropriate Secretion Of Antidiuretic Hormone Siadh Syndrome Of Inappropriate Vasopressin Secretion Syndrome Of Inappropriate Secretion Of Adh Inappropriate Secretion Of Antidiuretic Hormone Syndrome Of Inappropriate Antidiuresis Siadh - [Syndrome Of Inappropriate Secretion Of Antidiuretic Hormone] Antidiuretic Hormone Syndrome Hormone Secretion Inadequate Antidiuretic Hormone Secretion Syndrome Schwartz-Bartter Syndrome Siad - [Syndrome Of Inappropriate Antidiuresis] Hypersecretion Of Antidiuretic Hormone
Transverse Myelitis	Myelitis Transverse Myelitis, Transverse
Gallbladder Small Cell Carcinoma	Oat Cell Carcinoma Of The Gallbladder Gallbladder Small Cell Neuroendocrine Carcinoma
Stiff-Person Syndrome	SPS Stiff-Man Syndrome Stiff Man Syndrome Stiff Person Syndrome Moersch-Woltman Syndrome Sms Stiff-Trunk Syndrome Morsch Woltman Syndrome Stiff Person Syndrome And Related Disorders Stiff Person Spectrum Disorder Classic Stiff Person Syndrome Classic Sps Focal Stiff Limb Syndrome Focal Stiff-Person Syndrome Stiff Leg Syndrome Progressive Encephalomyelitis With Rigidity
Supratentorial Meningioma
Thymus Gland Disease	Disease Of Thymus Gland
Acute Necrotizing Encephalitis	Acute Necrotizing Encephalopathy Postinfectious Acute Necrotizing Hemorrhagic Encephalopathy Ane Acute Necrotizing Encephalopathy Type 1 Adane Ane1 Autosomal Dominant Acute Necrotizing Encephalopathy Iiae3 Susceptibility To Acute Necrotizing Encephalopathy Susceptibility To Infection-Induced Acute Encephalopathy Encephalopathy, Acute Necrotizing, Susceptibility To Encephalitis, Acute Necrotizing
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Thymus Cancer	Thymic Neoplasm Thymic Tumor Thymus Neoplasm Thymus Neoplasms Malignant Neoplasm Of Thymus Neoplasm Of Thymus Thymic Neoplasms Thymoma, Familial Thymic Carcinoma Thymoma, Type C Cancer Of Thymus Malignant Tumour Of Thymus Primary Malignant Neoplasm Of Thymus Thymic Glandular Cancer Thymus Gland Cancer
Pyometritis
Auditory Agnosia
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
Hemidystonia
Retrograde Amnesia	Amnesia, Retrograde
Kleine-Levin Hibernation Syndrome	Kleine-Levin Syndrome Familial Kleine-Levin Syndrome Kleine Levin Syndrome Familial Hibernation Syndrome Recurrent Hypersomnolence Hypersomnia-Bulimia Syndrome
Akinetic Mutism	Coma Vigilans
Dissociative Amnesia	Psychogenic Amnesia Amnesia, Dissociative Amnesia, Psychogenic Amnesia Neurosis Hysterical Fugue Dissociative Fugue
Choreatic Disease	Chorea Hereditary Chorea
Polyradiculopathy
Recurrent Hypersomnia	Primary Recurrent Hypersomnia Hypersomnia Recurrent Disorders Of Excessive Somnolence Hypersomnia, Recurrent
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
Autoimmune Neuropathy
Drug Psychosis	Drug-Induced Psychosis Drug-Induced Psychotic Disorder Psychoses, Substance-Induced Psychoses, Drug
Drug-Induced Mental Disorder
Multifocal Dystonia
Brachial Plexus Neuritis	Brachial Neuritis Parsonage-Aldren-Turner Syndrome
Speech Disorder	Speech Disorders
Autoimmune Disease Of Central Nervous System
Miller Fisher Syndrome	Cranial Variant Of Gbs Fisher'S Syndrome Miller-Fisher Variant Of Guillain-Barre Syndrome Miller-Fisher Syndrome Cranial Variant Of Guillain-Barré Syndrome Cranial Variant Of Guillain-Barre Syndrome Fisher Syndrome
Cortical Deafness
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Neurosarcoidosis	Cerebral Sarcoidosis
Reflex Epilepsy	Epilepsy, Reflex Epilepsy, Sensory-Induced Epilepsy Reflex
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Whipple Disease	Intestinal Lipodystrophy Whipple'S Disease Intestinal Lipophagic Granulomatosis Secondary Non-Tropical Sprue Tropheryma Whippelii Infection Whipples Disease
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Echolalia
Gummatous Syphilis
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
High Grade Glioma	Malignant Glioma Glial Cell Tumor Glioma, Malignant Malignant Neuroglial Tumor Neuroglial Tumor Glioma Malignant Gliomas
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Meningovascular Neurosyphilis
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
Movement Disease	Movement Disorders Movement Disorder
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07613	LGI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22218	Lgi1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28740	Lgi1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LGI1	MGD	MGI:1861691
Rattus norvegicus	LGI1	RGD	RGD:628742