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O95970

- LGI1_HUMAN

UniProt

O95970 - LGI1_HUMAN

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
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    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. protein binding Source: DFLAT
    2. 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

    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-SubCell
    3. extracellular space Source: UniProtKB
    4. synapse Source: UniProtKB-SubCell

    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.
    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

    MESERSKRMG NACIPLKRIA YFLCLLSALL LTEGKKPAKP KCPAVCTCTK    50
    DNALCENARS IPRTVPPDVI SLSFVRSGFT EISEGSFLFT PSLQLLLFTS 100
    NSFDVISDDA FIGLPHLEYL FIENNNIKSI SRHTFRGLKS LIHLSLANNN 150
    LQTLPKDIFK GLDSLTNVDL RGNSFNCDCK LKWLVEWLGH TNATVEDIYC 200
    EGPPEYKKRK INSLSSKDFD CIITEFAKSQ DLPYQSLSID TFSYLNDEYV 250
    VIAQPFTGKC IFLEWDHVEK TFRNYDNITG TSTVVCKPIV IETQLYVIVA 300
    QLFGGSHIYK RDSFANKFIK IQDIEILKIR KPNDIETFKI ENNWYFVVAD 350
    SSKAGFTTIY KWNGNGFYSH QSLHAWYRDT DVEYLEIVRT PQTLRTPHLI 400
    LSSSSQRPVI YQWNKATQLF TNQTDIPNME DVYAVKHFSV KGDVYICLTR 450
    FIGDSKVMKW GGSSFQDIQR MPSRGSMVFQ PLQINNYQYA ILGSDYSFTQ 500
    VYNWDAEKAK FVKFQELNVQ APRSFTHVSI NKRNFLFASS FKGNTQIYKH 550
    VIVDLSA 557
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    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: October 1, 2014
    This is version 126 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

    Dasty 3