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Aliases & Descriptions for LGI1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EPITEMPIN 1, 2 | | EPT 2, 3, 5 | | ETL1 1, 2, 5 | | Epitempin-1 3 | | IB1099 1, 2 | | OTTHUMP00000020121 2 |
| | | Descriptions |
|---|
| epilepsy, partial 1 | | leucine-rich, glioma inactivated 1 2 |
|
| | Search outside databases for aliases for LGI1 genePrevious GC identifers: GC10P094410 GC10P094751 GC10P095648 GC10P095182 |
Summaries for LGI1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for LGI1: This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided by RefSeq] Gene Wiki entry for LGI1 |
Genomic Location for LGI1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the LGI1 gene 
Entrez Gene cytogenetic band: 10q24 Ensembl cytogenetic band: 10q23.33 HGNC cytogenetic band: 10q24LGI1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P095507:
(about GC identifiers)
Start:
|
95,507,632 bp from pter |
End:
|
95,547,906 bp from pter |
Size:
|
40,275 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000010.9 NT_030059.12
| Proteins for LGI1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970 (See
protein sequence)Recommended Name: Leucine-rich glioma-inactivated protein 1 precursor Size: 557 amino acids; 63818 Da
Subcellular location: Secreted (Potential)
Secondary accessions: Q5W001 Q5W002 Q8NI23 Q96LF5Alternative splicing: 2 isoforms: O95970-1 O95970-2 REFSEQ proteins: NP_005088.1
ENSEMBL proteins: ENSP00000360472 ENSP00000360467
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- | About this table
Antibodies for LGI1: Assays for LGI1: | Protein
Domains/ Families for LGI1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O95970
ProtoNet protein and cluster: O95970 2 Blocks protein families: IPB000372 Cysteine-rich flanking region IPB000483 Cysteine-rich flanking region
UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970Similarity: Contains 7 EAR repeatsSimilarity: Contains 3 LRR (leucine-rich) repeats | Gene Function for LGI1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005097
Applied Biosystems Silencer® siRNAs for LGI1
Sigma-Aldrich siRNA and siRNA Panels for LGI1  Sigma-Aldrich shRNA for LGI1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005097                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005097                                  untagged cDNA clone in CMV expression vector: NM_005097 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005097
Genatlas biochemistry entry for LGI1:leucine-rich,glioma inactivated 1,rearranged in glioblastoma cell line t(10;19)(q24;q13),potential adhesion protein,expressed in the brain1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IEA | -- | About this table | Pathways & Interactions for LGI1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for LGI1 
4 Interacting proteins for LGI1 (ENSP000003604723) via UniProtKB, MINT, and/or STRINGAbout this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for LGI1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for LGI1 2 Novoseek chemical compound relationships for LGI1 gene
About this table
|
Transcripts for LGI1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005097
Sigma-Aldrich siRNA and siRNA Panels for LGI1  Sigma-Aldrich shRNA for LGI1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_005097 REFSEQ mRNAs for LGI1 gene: NM_005097.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005097               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005097                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005097                                  untagged cDNA clone in CMV expression vector: NM_005097  Additional cDNA sequence: AB209408.1 AF055636.1 AF473548.1 AK289706.1 AK303956.1 AK309416.1 AY358885.1 BC022500.1 CR621199.1 CR621328.1 6 DOTS entries: DT.40131478 DT.91666709 DT.311317 DT.40302079 DT.91666707 DT.100670435 24/51 AceView cDNA sequences (see all 51
):AY358885 AI240096 CR621199 CR621328 AA296979 AI918747 NM_005097 BC022500 BQ718988 BP373601 AI802297 H46267 BF475263 BI752989 BX508343 AI989349 AI039940 BP350084 BI603719 BG699594 H05383 BI550706 AA992473 AA992136
highest scoring ESTs for LGI1:AA992136 AA992473 AF055636 AI039940 AI621238 AI989349 AW590515 AY358885 BC022500 CD298918 Unigene Cluster for LGI1: Leucine-rich, glioma inactivated 1 Hs.533670 [show with all ESTs]Unigene Representative Sequence: AB209408
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for LGI1
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | |
| SP1: | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | - |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for LGI1
2 Ensembl transcripts including schematic representations: ENST00000371418
ENST00000371413
|
Expression for LGI1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| LGI1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for LGI1
1 / 2 / 3 4 probe-sets matching LGI1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTACAGAAA
SOURCE GeneReport for Unigene cluster: Hs.533670
Expression variation in blood from EXPOLDB for LGI1 UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970Tissue specificity: Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas |
Orthologs for LGI1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for LGI1 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for LGI1
ENSEMBL Gene Tree for LGI1 | Paralogs for LGI1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for LGI1 gene
- LGI32 LGI42 LGI22
|
SNPs/Variants for LGI1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for LGI1 (up to first 250kb)
|
Disorders & Mutations for LGI1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 604619 disorders: 600512 137800 UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970
Defects in LGI1 are the cause of lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]; also known as autosomal dominant partial epilepsy with auditory features (ADPEAF). ADLTE is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs10/14 Novoseek disease relationships for LGI1 gene (see all 14
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adpeaf |
99.09 |
52 |
15079010 (6), 18440780 (4), 15857855 (3), 17681454 (3) (see all 19) |
| epilepsy lateral temporal |
98.44 |
12 |
18625862 (3), 19191227 (2), 17296837 (2), 15009222 (2) (see all 8) |
| epilepsies partial |
81.23 |
23 |
15079011 (3), 18711109 (2), 12771268 (2), 15816978 (1) (see all 15) |
| epilepsy temporal lobe |
74.60 |
13 |
12023020 (2), 15660777 (1), 15021241 (1), 18355961 (1) (see all 11) |
| seizures febrile |
74.04 |
3 |
14598228 (2), 17981785 (1) |
| epilepsy generalized |
66.52 |
2 |
15079011 (1), 17981785 (1) |
| epilepsy |
65.05 |
16 |
15660777 (2), 15827762 (2), 15816978 (1), 15857855 (1) (see all 14) |
| epilepsy, idiopathic generalized |
64.65 |
1 |
15079011 (1) |
| glioma |
61.06 |
26 |
12821932 (5), 15047712 (4), 14598228 (2), 15827762 (2) (see all 13) |
| malignant glioma |
55.24 |
8 |
11907806 (1), 15827762 (1), 12821932 (1), 10920229 (1) |
About this table
GeneTests: LGI1 Autosomal Dominant Partial Epilepsy with Auditory Features Human Gene Mutation Database: LGI1 Human Genome Epidemiology Navigator: LGI1 (1 document)
|
Medical News for LGI1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for LGI1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/64 PubMed articles for LGI1 gene (see all 64
):- A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. (PubMed id 9879993)1, 2, 3, 4 Chernova O.B.... Cowell J.K. (1998)
- Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. (PubMed id 11978770)1, 2, 3, 4 Morante-Redolat J.M....Lopez de Munain A. (2002)
- LGI1 mutations in temporal lobe epilepsies. (PubMed id 15079010)1, 3, 4 Berkovic S.F.... Mulley J.C. (2004)
- LGI1 mutations in autosomal dominant partial epilepsy with auditory features. (PubMed id 15079011)1, 2, 3 Ottman R....Hauser W.A. (2004)
- LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. (PubMed id 12205652)1, 3, 4 Gu W.... Steinlein O.K. (2002)
- Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. (PubMed id 12771268)1, 3, 4 Fertig E.... Hisama F.M. (2003)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)3, 4 Deloukas P.... Rogers J. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. (PubMed id 12601709)3, 4 Pizzuti A.... Giallonardo A.T. (2003)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)3, 4 Clark H.F....Gray A. (2003)
|
Search for LGI1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing LGI1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing LGI1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LGI1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for LGI1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for LGI1:

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Incremental update: 13 Oct 2009
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