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O95970

- LGI1_HUMAN

UniProt

O95970 - LGI1_HUMAN

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Protein

Leucine-rich glioma-inactivated protein 1

Gene

LGI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

GO - Molecular functioni

  1. receptor binding Source: DFLAT

GO - Biological processi

  1. axon guidance Source: DFLAT
  2. cell proliferation Source: ProtInc
  3. nervous system development Source: ProtInc
  4. neuron projection development Source: DFLAT
  5. positive regulation of cell growth Source: DFLAT
  6. positive regulation of synaptic transmission Source: UniProtKB
  7. protein homooligomerization Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich glioma-inactivated protein 1
Alternative name(s):
Epitempin-1
Gene namesi
Name:LGI1
Synonyms:EPT
ORF Names:UNQ775/PRO1569
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:6572. LGI1.

Subcellular locationi

Secreted 3 Publications. Cell junctionsynapse By similarity
Note: Isoform 1 but not isoform 2 is secreted. Isoform 1 is enriched in the Golgi apparatus while isoform 2 accumulates in the endoplasmic reticulum.

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. extracellular region Source: UniProtKB-KW
  3. extracellular space Source: UniProtKB
  4. synapse Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Secreted, Synapse

Pathology & Biotechi

Involvement in diseasei

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.9 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261L → R in ETL1; probably affects signal sequence processing and secretion. 1 Publication
VAR_015771
Natural varianti42 – 421C → G in ETL1. 1 Publication
VAR_023008
Natural varianti42 – 421C → R in ETL1.
VAR_058538
Natural varianti46 – 461C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 1 Publication
VAR_015772
Natural varianti110 – 1101A → D in ETL1.
VAR_058539
Natural varianti122 – 1221I → K in ETL1. 1 Publication
VAR_058540
Natural varianti123 – 1231E → K in ETL1. 1 Publication
VAR_058541
Natural varianti136 – 1361R → W in ETL1. 1 Publication
VAR_058542
Natural varianti145 – 1451S → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein.
VAR_058543
Natural varianti154 – 1541L → P in ETL1.
VAR_058544
Natural varianti200 – 2001C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein.
VAR_058545
Natural varianti232 – 2321L → P in ETL1; loss of protein secretion. 1 Publication
VAR_058546
Natural varianti298 – 2981I → T in ETL1.
VAR_058547
Natural varianti318 – 3181F → C in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 1 Publication
Corresponds to variant rs28939075 [ dbSNP | Ensembl ].
VAR_015774
Natural varianti383 – 3831E → A in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 1 Publication
Corresponds to variant rs28937874 [ dbSNP | Ensembl ].
VAR_015773
Natural varianti432 – 4321V → E in ETL1.
VAR_058548
Natural varianti473 – 4731S → L in ETL1. 1 Publication
VAR_023009

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi192 – 1921N → Q: Affects glycosylation; when associated with Q-277 and Q-422. Loss of protein secretion; when associated with Q-277 and Q-422. 1 Publication
Mutagenesisi277 – 2771N → Q: Affects glycosylation; when associated with Q-192 and Q-422. Loss of protein secretion; when associated with Q-192 and Q-422. 1 Publication
Mutagenesisi422 – 4221N → Q: Affects glycosylation; when associated with Q-192 and Q-277. Loss of protein secretion; when associated with Q-192 and Q-277. 1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi600512. phenotype.
Orphaneti101046. Autosomal dominant epilepsy with auditory features.
PharmGKBiPA30349.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3434Sequence AnalysisAdd
BLAST
Chaini35 – 557523Leucine-rich glioma-inactivated protein 1PRO_0000017705Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi192 – 1921N-linked (GlcNAc...)Sequence Analysis
Glycosylationi277 – 2771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi422 – 4221N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO95970.
PRIDEiO95970.

PTM databases

PhosphoSiteiO95970.

Expressioni

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

Inductioni

Down-regulated in neuroblastoma cells.1 Publication

Gene expression databases

BgeeiO95970.
CleanExiHS_LGI1.
GenevestigatoriO95970.

Organism-specific databases

HPAiHPA054482.

Interactioni

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). Can bind to ADAM11 and ADAM23.By similarity

Protein-protein interaction databases

BioGridi114645. 2 interactions.
STRINGi9606.ENSP00000360472.

Structurei

3D structure databases

ProteinModelPortaliO95970.
SMRiO95970. Positions 42-240.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini35 – 7238LRRNTAdd
BLAST
Repeati92 – 11322LRR 1Add
BLAST
Repeati116 – 13722LRR 2Add
BLAST
Repeati140 – 16122LRR 3Add
BLAST
Domaini173 – 22351LRRCTAdd
BLAST
Repeati224 – 26744EAR 1Add
BLAST
Repeati270 – 31344EAR 2Add
BLAST
Repeati316 – 36449EAR 3Add
BLAST
Repeati365 – 41551EAR 4Add
BLAST
Repeati418 – 46245EAR 5Add
BLAST
Repeati463 – 50644EAR 6Add
BLAST
Repeati509 – 55244EAR 7Add
BLAST

Sequence similaritiesi

Contains 7 EAR repeats.PROSITE-ProRule annotation
Contains 3 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated
Contains 1 LRRNT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiNOG304734.
GeneTreeiENSGT00390000016191.
HOVERGENiHBG036744.
InParanoidiO95970.
OMAiRGNAFNC.
OrthoDBiEOG78SQHH.
PhylomeDBiO95970.
TreeFamiTF333155.

Family and domain databases

InterProiIPR000483. Cys-rich_flank_reg_C.
IPR009039. EAR.
IPR005492. EPTP.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF03736. EPTP. 7 hits.
PF13855. LRR_8. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEiPS50912. EAR. 7 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

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
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261L → R in ETL1; probably affects signal sequence processing and secretion. 1 Publication
VAR_015771
Natural varianti42 – 421C → G in ETL1. 1 Publication
VAR_023008
Natural varianti42 – 421C → R in ETL1.
VAR_058538
Natural varianti46 – 461C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. 1 Publication
VAR_015772
Natural varianti110 – 1101A → D in ETL1.
VAR_058539
Natural varianti122 – 1221I → K in ETL1. 1 Publication
VAR_058540
Natural varianti123 – 1231E → K in ETL1. 1 Publication
VAR_058541
Natural varianti136 – 1361R → W in ETL1. 1 Publication
VAR_058542
Natural varianti145 – 1451S → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein.
VAR_058543
Natural varianti154 – 1541L → P in ETL1.
VAR_058544
Natural varianti200 – 2001C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein.
VAR_058545
Natural varianti232 – 2321L → P in ETL1; loss of protein secretion. 1 Publication
VAR_058546
Natural varianti298 – 2981I → T in ETL1.
VAR_058547
Natural varianti318 – 3181F → C in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 1 Publication
Corresponds to variant rs28939075 [ dbSNP | Ensembl ].
VAR_015774
Natural varianti383 – 3831E → A in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. 1 Publication
Corresponds to variant rs28937874 [ dbSNP | Ensembl ].
VAR_015773
Natural varianti432 – 4321V → E in ETL1.
VAR_058548
Natural varianti473 – 4731S → L in ETL1. 1 Publication
VAR_023009

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei96 – 14348Missing in isoform 3. 1 PublicationVSP_038234Add
BLAST
Alternative sequencei280 – 29112GTSTV…KPIVI → VLREIHRFTNMS in isoform 2. 1 PublicationVSP_007678Add
BLAST
Alternative sequencei292 – 557266Missing in isoform 2. 1 PublicationVSP_007679Add
BLAST

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, AL358154 Genomic DNA. Translation: CAH73837.1.
AL157396, AL358154 Genomic DNA. Translation: CAH73838.1.
AL358154, AL157396 Genomic DNA. Translation: CAI14981.1.
AL358154, AL157396 Genomic DNA. Translation: CAI14982.1.
CH471066 Genomic DNA. Translation: EAW50052.1.
BC022500 mRNA. Translation: AAH22500.1.
CCDSiCCDS7431.1. [O95970-1]
RefSeqiNP_005088.1. NM_005097.2. [O95970-1]
XP_005270329.1. XM_005270272.1. [O95970-2]
UniGeneiHs.533670.

Genome annotation databases

EnsembliENST00000371413; ENSP00000360467; ENSG00000108231. [O95970-2]
ENST00000371418; ENSP00000360472; ENSG00000108231. [O95970-1]
GeneIDi9211.
KEGGihsa:9211.
UCSCiuc001kjc.4. human. [O95970-1]
uc010qnv.2. human. [O95970-3]
uc021pwk.1. human. [O95970-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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 , AL358154 Genomic DNA. Translation: CAH73837.1 .
AL157396 , AL358154 Genomic DNA. Translation: CAH73838.1 .
AL358154 , AL157396 Genomic DNA. Translation: CAI14981.1 .
AL358154 , AL157396 Genomic DNA. Translation: CAI14982.1 .
CH471066 Genomic DNA. Translation: EAW50052.1 .
BC022500 mRNA. Translation: AAH22500.1 .
CCDSi CCDS7431.1. [O95970-1 ]
RefSeqi NP_005088.1. NM_005097.2. [O95970-1 ]
XP_005270329.1. XM_005270272.1. [O95970-2 ]
UniGenei Hs.533670.

3D structure databases

ProteinModelPortali O95970.
SMRi O95970. Positions 42-240.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114645. 2 interactions.
STRINGi 9606.ENSP00000360472.

PTM databases

PhosphoSitei O95970.

Proteomic databases

PaxDbi O95970.
PRIDEi O95970.

Protocols and materials databases

DNASUi 9211.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000371413 ; ENSP00000360467 ; ENSG00000108231 . [O95970-2 ]
ENST00000371418 ; ENSP00000360472 ; ENSG00000108231 . [O95970-1 ]
GeneIDi 9211.
KEGGi hsa:9211.
UCSCi uc001kjc.4. human. [O95970-1 ]
uc010qnv.2. human. [O95970-3 ]
uc021pwk.1. human. [O95970-2 ]

Organism-specific databases

CTDi 9211.
GeneCardsi GC10P095507.
GeneReviewsi LGI1.
HGNCi HGNC:6572. LGI1.
HPAi HPA054482.
MIMi 600512. phenotype.
604619. gene.
neXtProti NX_O95970.
Orphaneti 101046. Autosomal dominant epilepsy with auditory features.
PharmGKBi PA30349.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG304734.
GeneTreei ENSGT00390000016191.
HOVERGENi HBG036744.
InParanoidi O95970.
OMAi RGNAFNC.
OrthoDBi EOG78SQHH.
PhylomeDBi O95970.
TreeFami TF333155.

Miscellaneous databases

GeneWikii LGI1.
GenomeRNAii 9211.
NextBioi 34531.
PROi O95970.
SOURCEi Search...

Gene expression databases

Bgeei O95970.
CleanExi HS_LGI1.
Genevestigatori O95970.

Family and domain databases

InterProi IPR000483. Cys-rich_flank_reg_C.
IPR009039. EAR.
IPR005492. EPTP.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view ]
Pfami PF03736. EPTP. 7 hits.
PF13855. LRR_8. 1 hit.
[Graphical view ]
SMARTi SM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view ]
PROSITEi PS50912. EAR. 7 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors."
    Chernova O.B., Somerville R.P., Cowell J.K.
    Oncogene 17:2873-2881(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), DISEASE.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Brain and Trachea.
  5. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  8. "LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway."
    Kunapuli P., Kasyapa C.S., Hawthorn L., Cowell J.K.
    J. Biol. Chem. 279:23151-23157(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  9. Erratum
    Kunapuli P., Kasyapa C.S., Hawthorn L., Cowell J.K.
    J. Biol. Chem. 282:2752-2752(2007)
  10. Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, MUTAGENESIS OF ASN-192; ASN-277 AND ASN-422, CHARACTERIZATION OF VARIANTS ETL1 ARG-46; ARG-145; ARG-200; CYS-318 AND ALA-383.
  11. "Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells."
    Gabellini N., Masola V., Quartesan S., Oselladore B., Nobile C., Michelucci R., Curtarello M., Parolin C., Palu G.
    J. Cell. Physiol. 207:711-721(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INDUCTION, TISSUE SPECIFICITY.
  12. "The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain."
    Furlan S., Roncaroli F., Forner F., Vitiello L., Calabria E., Piquer-Sirerol S., Valle G., Perez-Tur J., Michelucci R., Nobile C.
    J. Neurochem. 98:985-991(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
  13. Cited for: SUBCELLULAR LOCATION, VARIANT ETL1 PRO-232, CHARACTERIZATION OF VARIANTS ETL1 PRO-232 AND ALA-383.
  14. "LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy."
    Nobile C., Michelucci R., Andreazza S., Pasini E., Tosatto S.C., Striano P.
    Hum. Mutat. 30:530-536(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  15. Cited for: VARIANT ETL1 ALA-383.
  16. "LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures."
    Gu W., Brodtkorb E., Steinlein O.K.
    Ann. Neurol. 52:364-367(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ETL1 ARG-46.
  17. "Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism."
    Pizzuti A., Flex E., Di Bonaventura C., Dottorini T., Egeo G., Manfredi M., Dallapiccola B., Giallonardo A.T.
    Ann. Neurol. 53:396-399(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ETL1 ARG-26.
  18. "Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features."
    Fertig E., Lincoln A., Martinuzzi A., Mattson R.H., Hisama F.M.
    Neurology 60:1687-1690(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ETL1 CYS-318.
  19. Cited for: VARIANTS ETL1 GLY-42 AND LEU-473.
  20. "A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures."
    Michelucci R., Mecarelli O., Bovo G., Bisulli F., Testoni S., Striano P., Striano S., Tinuper P., Nobile C.
    Neurology 68:2150-2151(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ETL1 TRP-136.
  21. "A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy."
    Striano P., de Falco A., Diani E., Bovo G., Furlan S., Vitiello L., Pinardi F., Striano S., Michelucci R., de Falco F.A., Nobile C.
    Arch. Neurol. 65:939-942(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ETL1 LYS-122.
  22. "Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings."
    Bonaventura C.D., Carni M., Diani E., Fattouch J., Vaudano E.A., Egeo G., Pantano P., Maraviglia B., Bozzao L., Manfredi M., Prencipe M., Giallonardo T.A., Nobile C.
    Epilepsia 50:2481-2486(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ETL1 LYS-123.

Entry informationi

Entry nameiLGI1_HUMAN
AccessioniPrimary (citable) accession number: O95970
Secondary accession number(s): A8K0Z1
, B4E1S0, Q5W001, Q5W002, Q8NI23, Q96LF5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: May 1, 1999
Last modified: November 26, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

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