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Protein

Leucine-rich glioma-inactivated protein 1

Gene

LGI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • signaling receptor binding Source: DFLAT

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5682910 LGI-ADAM interactions

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Leucine-rich glioma-inactivated protein 1
Alternative name(s):
Epitempin-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LGI1
Synonyms:EPT
ORF Names:UNQ775/PRO1569
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000108231.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6572 LGI1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604619 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95970

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell junction, Secreted, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epilepsy, familial temporal lobe, 1 (ETL1)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600512
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01577126L → R in ETL1; probably affects signal sequence processing and secretion. 1 Publication1
Natural variantiVAR_02300842C → G in ETL1. 1 PublicationCorresponds to variant dbSNP:rs797044996EnsemblClinVar.1
Natural variantiVAR_05853842C → R in ETL1. Corresponds to variant dbSNP:rs797044996EnsemblClinVar.1
Natural variantiVAR_01577246C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 2 PublicationsCorresponds to variant dbSNP:rs104894166EnsemblClinVar.1
Natural variantiVAR_058539110A → D in ETL1. 1
Natural variantiVAR_058540122I → K in ETL1. 1 PublicationCorresponds to variant dbSNP:rs119488100EnsemblClinVar.1
Natural variantiVAR_058541123E → K in ETL1. 1 Publication1
Natural variantiVAR_058542136R → W in ETL1. 1 PublicationCorresponds to variant dbSNP:rs119488099EnsemblClinVar.1
Natural variantiVAR_058543145S → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 1 Publication1
Natural variantiVAR_058544154L → P in ETL1. 1
Natural variantiVAR_058545200C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 1 Publication1
Natural variantiVAR_058546232L → P in ETL1; loss of protein secretion. 1 PublicationCorresponds to variant dbSNP:rs104894167EnsemblClinVar.1
Natural variantiVAR_058547298I → T in ETL1. 1
Natural variantiVAR_015774318F → C in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 2 PublicationsCorresponds to variant dbSNP:rs28939075EnsemblClinVar.1
Natural variantiVAR_015773383E → A in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 3 PublicationsCorresponds to variant dbSNP:rs28937874EnsemblClinVar.1
Natural variantiVAR_058548432V → E in ETL1. 1
Natural variantiVAR_023009473S → L in ETL1. 1 PublicationCorresponds to variant dbSNP:rs797044999EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi192N → Q: Affects glycosylation; when associated with Q-277 and Q-422. Loss of protein secretion; when associated with Q-277 and Q-422. 1 Publication1
Mutagenesisi277N → Q: Affects glycosylation; when associated with Q-192 and Q-422. Loss of protein secretion; when associated with Q-192 and Q-422. 1 Publication1
Mutagenesisi422N → Q: Affects glycosylation; when associated with Q-192 and Q-277. Loss of protein secretion; when associated with Q-192 and Q-277. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
9211

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
LGI1

MalaCards human disease database

More...
MalaCardsi
LGI1
MIMi600512 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108231

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
101046 Autosomal dominant epilepsy with auditory features

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30349

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LGI1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 34Sequence analysisAdd BLAST34
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001770535 – 557Leucine-rich glioma-inactivated protein 1Add BLAST523

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi277N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi422N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95970

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95970

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95970

PeptideAtlas

More...
PeptideAtlasi
O95970

PRoteomics IDEntifications database

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PRIDEi
O95970

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51151
51152 [O95970-2]
51153 [O95970-3]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
O95970-3 [O95970-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95970

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O95970

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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).2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated in neuroblastoma cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000108231 Expressed in 133 organ(s), highest expression level in caudate nucleus

CleanEx database of gene expression profiles

More...
CleanExi
HS_LGI1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95970 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95970 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Oligomer. Interacts with KCNA1 within a complex containing KCNA1, KCNA4 and KCNAB1. Part of a complex containing ADAM22, DLG4/PSD95 and CACNG2/Stargazin (PubMed:27066583). Can bind to ADAM11 and ADAM23.By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114645, 2 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O95970

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360472

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1557
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5Y2ZX-ray2.67B/D/F/H/J/L224-557[»]
5Y30X-ray1.78A37-223[»]
5Y31X-ray7.12B/D37-557[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95970

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O95970

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini35 – 72LRRNTAdd BLAST38
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati92 – 113LRR 1Add BLAST22
Repeati116 – 137LRR 2Add BLAST22
Repeati140 – 161LRR 3Add BLAST22
Domaini173 – 223LRRCTAdd BLAST51
Repeati225 – 267EAR 1PROSITE-ProRule annotationAdd BLAST43
Repeati271 – 313EAR 2PROSITE-ProRule annotationAdd BLAST43
Repeati317 – 364EAR 3PROSITE-ProRule annotationAdd BLAST48
Repeati366 – 415EAR 4PROSITE-ProRule annotationAdd BLAST50
Repeati419 – 462EAR 5PROSITE-ProRule annotationAdd BLAST44
Repeati464 – 506EAR 6PROSITE-ProRule annotationAdd BLAST43
Repeati510 – 552EAR 7PROSITE-ProRule annotationAdd BLAST43

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIXR Eukaryota
ENOG410XSZV LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159793

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG036744

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95970

Identification of Orthologs from Complete Genome Data

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OMAi
IYQWNKG

Database of Orthologous Groups

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OrthoDBi
365688at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95970

TreeFam database of animal gene trees

More...
TreeFami
TF333155

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR009039 EAR
IPR005492 EPTP
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03736 EPTP, 7 hits
PF13855 LRR_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00369 LRR_TYP, 3 hits
SM00082 LRRCT, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50912 EAR, 7 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95970-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MESERSKRMG NACIPLKRIA YFLCLLSALL LTEGKKPAKP KCPAVCTCTK
60 70 80 90 100
DNALCENARS IPRTVPPDVI SLSFVRSGFT EISEGSFLFT PSLQLLLFTS
110 120 130 140 150
NSFDVISDDA FIGLPHLEYL FIENNNIKSI SRHTFRGLKS LIHLSLANNN
160 170 180 190 200
LQTLPKDIFK GLDSLTNVDL RGNSFNCDCK LKWLVEWLGH TNATVEDIYC
210 220 230 240 250
EGPPEYKKRK INSLSSKDFD CIITEFAKSQ DLPYQSLSID TFSYLNDEYV
260 270 280 290 300
VIAQPFTGKC IFLEWDHVEK TFRNYDNITG TSTVVCKPIV IETQLYVIVA
310 320 330 340 350
QLFGGSHIYK RDSFANKFIK IQDIEILKIR KPNDIETFKI ENNWYFVVAD
360 370 380 390 400
SSKAGFTTIY KWNGNGFYSH QSLHAWYRDT DVEYLEIVRT PQTLRTPHLI
410 420 430 440 450
LSSSSQRPVI YQWNKATQLF TNQTDIPNME DVYAVKHFSV KGDVYICLTR
460 470 480 490 500
FIGDSKVMKW GGSSFQDIQR MPSRGSMVFQ PLQINNYQYA ILGSDYSFTQ
510 520 530 540 550
VYNWDAEKAK FVKFQELNVQ APRSFTHVSI NKRNFLFASS FKGNTQIYKH

VIVDLSA
Length:557
Mass (Da):63,818
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i890EEDA08D95C854
GO
Isoform 2 (identifier: O95970-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     280-291: GTSTVVCKPIVI → VLREIHRFTNMS
     292-557: Missing.

Show »
Length:291
Mass (Da):33,121
Checksum:iBC10E3E110E016D0
GO
Isoform 3 (identifier: O95970-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     96-143: Missing.

Show »
Length:509
Mass (Da):58,302
Checksum:iEA28D9DACAFE97BD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUD3A0A1B0GUD3_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
281Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFU4A0A0D9SFU4_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
533Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV33A0A1B0GV33_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
287Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFH6A0A0D9SFH6_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWB4A0A1B0GWB4_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
236Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFS5A0A0D9SFS5_HUMAN
Leucine-rich glioma inactivated 1 i...
LGI1
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTM5A0A1B0GTM5_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFE3A0A0D9SFE3_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVP2A0A1B0GVP2_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
52Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVF6A0A1B0GVF6_HUMAN
Leucine-rich glioma-inactivated pro...
LGI1
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01577126L → R in ETL1; probably affects signal sequence processing and secretion. 1 Publication1
Natural variantiVAR_02300842C → G in ETL1. 1 PublicationCorresponds to variant dbSNP:rs797044996EnsemblClinVar.1
Natural variantiVAR_05853842C → R in ETL1. Corresponds to variant dbSNP:rs797044996EnsemblClinVar.1
Natural variantiVAR_01577246C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 2 PublicationsCorresponds to variant dbSNP:rs104894166EnsemblClinVar.1
Natural variantiVAR_058539110A → D in ETL1. 1
Natural variantiVAR_058540122I → K in ETL1. 1 PublicationCorresponds to variant dbSNP:rs119488100EnsemblClinVar.1
Natural variantiVAR_058541123E → K in ETL1. 1 Publication1
Natural variantiVAR_058542136R → W in ETL1. 1 PublicationCorresponds to variant dbSNP:rs119488099EnsemblClinVar.1
Natural variantiVAR_058543145S → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 1 Publication1
Natural variantiVAR_058544154L → P in ETL1. 1
Natural variantiVAR_058545200C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 1 Publication1
Natural variantiVAR_058546232L → P in ETL1; loss of protein secretion. 1 PublicationCorresponds to variant dbSNP:rs104894167EnsemblClinVar.1
Natural variantiVAR_058547298I → T in ETL1. 1
Natural variantiVAR_015774318F → C in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 2 PublicationsCorresponds to variant dbSNP:rs28939075EnsemblClinVar.1
Natural variantiVAR_015773383E → A in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 3 PublicationsCorresponds to variant dbSNP:rs28937874EnsemblClinVar.1
Natural variantiVAR_058548432V → E in ETL1. 1
Natural variantiVAR_023009473S → L in ETL1. 1 PublicationCorresponds to variant dbSNP:rs797044999EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03823496 – 143Missing in isoform 3. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_007678280 – 291GTSTV…KPIVI → VLREIHRFTNMS in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_007679292 – 557Missing in isoform 2. 1 PublicationAdd BLAST266

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF055636 mRNA Translation: AAC99316.1
AF473548 mRNA Translation: AAM22074.1
AY358885 mRNA Translation: AAQ89244.1
AK289706 mRNA Translation: BAF82395.1
AK303956 mRNA Translation: BAG64882.1
AL157396 Genomic DNA No translation available.
AL358154 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50052.1
BC022500 mRNA Translation: AAH22500.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7431.1 [O95970-1]
CCDS76325.1 [O95970-2]
CCDS81490.1 [O95970-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001295204.1, NM_001308275.1 [O95970-2]
NP_001295205.1, NM_001308276.1 [O95970-3]
NP_005088.1, NM_005097.3 [O95970-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.533670

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371413; ENSP00000360467; ENSG00000108231 [O95970-2]
ENST00000371418; ENSP00000360472; ENSG00000108231 [O95970-1]
ENST00000630047; ENSP00000485917; ENSG00000108231 [O95970-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9211

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9211

UCSC genome browser

More...
UCSCi
uc001kjc.5 human [O95970-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF055636 mRNA Translation: AAC99316.1
AF473548 mRNA Translation: AAM22074.1
AY358885 mRNA Translation: AAQ89244.1
AK289706 mRNA Translation: BAF82395.1
AK303956 mRNA Translation: BAG64882.1
AL157396 Genomic DNA No translation available.
AL358154 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50052.1
BC022500 mRNA Translation: AAH22500.1
CCDSiCCDS7431.1 [O95970-1]
CCDS76325.1 [O95970-2]
CCDS81490.1 [O95970-3]
RefSeqiNP_001295204.1, NM_001308275.1 [O95970-2]
NP_001295205.1, NM_001308276.1 [O95970-3]
NP_005088.1, NM_005097.3 [O95970-1]
UniGeneiHs.533670

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5Y2ZX-ray2.67B/D/F/H/J/L224-557[»]
5Y30X-ray1.78A37-223[»]
5Y31X-ray7.12B/D37-557[»]
ProteinModelPortaliO95970
SMRiO95970
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114645, 2 interactors
CORUMiO95970
STRINGi9606.ENSP00000360472

PTM databases

iPTMnetiO95970
PhosphoSitePlusiO95970

Polymorphism and mutation databases

BioMutaiLGI1

Proteomic databases

EPDiO95970
jPOSTiO95970
PaxDbiO95970
PeptideAtlasiO95970
PRIDEiO95970
ProteomicsDBi51151
51152 [O95970-2]
51153 [O95970-3]
TopDownProteomicsiO95970-3 [O95970-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9211
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371413; ENSP00000360467; ENSG00000108231 [O95970-2]
ENST00000371418; ENSP00000360472; ENSG00000108231 [O95970-1]
ENST00000630047; ENSP00000485917; ENSG00000108231 [O95970-3]
GeneIDi9211
KEGGihsa:9211
UCSCiuc001kjc.5 human [O95970-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9211
DisGeNETi9211
EuPathDBiHostDB:ENSG00000108231.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LGI1
GeneReviewsiLGI1
HGNCiHGNC:6572 LGI1
MalaCardsiLGI1
MIMi600512 phenotype
604619 gene
neXtProtiNX_O95970
OpenTargetsiENSG00000108231
Orphaneti101046 Autosomal dominant epilepsy with auditory features
PharmGKBiPA30349

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIXR Eukaryota
ENOG410XSZV LUCA
GeneTreeiENSGT00940000159793
HOVERGENiHBG036744
InParanoidiO95970
OMAiIYQWNKG
OrthoDBi365688at2759
PhylomeDBiO95970
TreeFamiTF333155

Enzyme and pathway databases

ReactomeiR-HSA-5682910 LGI-ADAM interactions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
LGI1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LGI1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9211

Protein Ontology

More...
PROi
PR:O95970

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108231 Expressed in 133 organ(s), highest expression level in caudate nucleus
CleanExiHS_LGI1
ExpressionAtlasiO95970 baseline and differential
GenevisibleiO95970 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR009039 EAR
IPR005492 EPTP
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF03736 EPTP, 7 hits
PF13855 LRR_8, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 3 hits
SM00082 LRRCT, 1 hit
PROSITEiView protein in PROSITE
PS50912 EAR, 7 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLGI1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95970
Secondary accession number(s): A8K0Z1
, B4E1S0, Q5W001, Q5W002, Q8NI23, Q96LF5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: May 1, 1999
Last modified: January 16, 2019
This is version 165 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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