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O95970 (LGI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Leucine-rich glioma-inactivated protein 1
Alternative name(s):
Epitempin-1
Gene names
Name:LGI1
Synonyms:EPT
ORF Names:UNQ775/PRO1569
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length557 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8 Ref.11

Subunit structure

Oligomer By similarity. Interacts with KCNA1 within a complex containing KCNA1, KCNA4 and KCNAB1 By similarity. Part of a complex containing ADAM22, DLG4/PSD95 and CACNG2 (stargazin) By similarity. Can bind to ADAM11 and ADAM23 By similarity.

Subcellular location

Secreted. 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. Ref.10 Ref.12 Ref.13

Tissue 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. 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). Ref.11 Ref.12

Induction

Down-regulated in neuroblastoma cells. Ref.11

Post-translational modification

Glycosylated. Ref.10

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.10 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22

Sequence similarities

Contains 7 EAR repeats.

Contains 3 LRR (leucine-rich) repeats.

Contains 1 LRRCT domain.

Contains 1 LRRNT domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95970-1)

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.
Isoform 2 (identifier: O95970-2)

The sequence of this isoform differs from the canonical sequence as follows:
     280-291: GTSTVVCKPIVI → VLREIHRFTNMS
     292-557: Missing.
Isoform 3 (identifier: O95970-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3434 Potential
Chain35 – 557523Leucine-rich glioma-inactivated protein 1
PRO_0000017705

Regions

Domain35 – 7238LRRNT
Repeat92 – 11322LRR 1
Repeat116 – 13722LRR 2
Repeat140 – 16122LRR 3
Domain173 – 22351LRRCT
Repeat224 – 26744EAR 1
Repeat270 – 31344EAR 2
Repeat316 – 36449EAR 3
Repeat365 – 41551EAR 4
Repeat418 – 46245EAR 5
Repeat463 – 50644EAR 6
Repeat509 – 55244EAR 7

Amino acid modifications

Glycosylation1921N-linked (GlcNAc...) Potential
Glycosylation2771N-linked (GlcNAc...) Potential
Glycosylation4221N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence96 – 14348Missing in isoform 3.
VSP_038234
Alternative sequence280 – 29112GTSTV…KPIVI → VLREIHRFTNMS in isoform 2.
VSP_007678
Alternative sequence292 – 557266Missing in isoform 2.
VSP_007679
Natural variant261L → R in ETL1; probably affects signal sequence processing and secretion. Ref.17
VAR_015771
Natural variant421C → G in ETL1. Ref.19
VAR_023008
Natural variant421C → R in ETL1.
VAR_058538
Natural variant461C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. Ref.10 Ref.16
VAR_015772
Natural variant1101A → D in ETL1.
VAR_058539
Natural variant1221I → K in ETL1. Ref.21
VAR_058540
Natural variant1231E → K in ETL1. Ref.22
VAR_058541
Natural variant1361R → W in ETL1. Ref.20
VAR_058542
Natural variant1451S → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. Ref.10
VAR_058543
Natural variant1541L → P in ETL1.
VAR_058544
Natural variant2001C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. Ref.10
VAR_058545
Natural variant2321L → P in ETL1; loss of protein secretion. Ref.13
VAR_058546
Natural variant2981I → T in ETL1.
VAR_058547
Natural variant3181F → C in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. Ref.10 Ref.18
Corresponds to variant rs28939075 [ dbSNP | Ensembl ].
VAR_015774
Natural variant3831E → A in ETL1; loss of protein secretion; protein is retained in the endoplasmic reticulum; does not affect glycosylation status of the protein. Ref.10 Ref.13 Ref.15
Corresponds to variant rs28937874 [ dbSNP | Ensembl ].
VAR_015773
Natural variant4321V → E in ETL1.
VAR_058548
Natural variant4731S → L in ETL1. Ref.19
VAR_023009

Experimental info

Mutagenesis1921N → Q: Affects glycosylation; when associated with Q-277 and Q-422. Loss of protein secretion; when associated with Q-277 and Q-422. Ref.10
Mutagenesis2771N → Q: Affects glycosylation; when associated with Q-192 and Q-422. Loss of protein secretion; when associated with Q-192 and Q-422. Ref.10
Mutagenesis4221N → Q: Affects glycosylation; when associated with Q-192 and Q-277. Loss of protein secretion; when associated with Q-192 and Q-277. Ref.10

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 890EEDA08D95C854

FASTA55763,818
        10         20         30         40         50         60 
MESERSKRMG NACIPLKRIA YFLCLLSALL LTEGKKPAKP KCPAVCTCTK DNALCENARS 

        70         80         90        100        110        120 
IPRTVPPDVI SLSFVRSGFT EISEGSFLFT PSLQLLLFTS NSFDVISDDA FIGLPHLEYL 

       130        140        150        160        170        180 
FIENNNIKSI SRHTFRGLKS LIHLSLANNN LQTLPKDIFK GLDSLTNVDL RGNSFNCDCK 

       190        200        210        220        230        240 
LKWLVEWLGH TNATVEDIYC EGPPEYKKRK INSLSSKDFD CIITEFAKSQ DLPYQSLSID 

       250        260        270        280        290        300 
TFSYLNDEYV VIAQPFTGKC IFLEWDHVEK TFRNYDNITG TSTVVCKPIV IETQLYVIVA 

       310        320        330        340        350        360 
QLFGGSHIYK RDSFANKFIK IQDIEILKIR KPNDIETFKI ENNWYFVVAD SSKAGFTTIY 

       370        380        390        400        410        420 
KWNGNGFYSH QSLHAWYRDT DVEYLEIVRT PQTLRTPHLI LSSSSQRPVI YQWNKATQLF 

       430        440        450        460        470        480 
TNQTDIPNME DVYAVKHFSV KGDVYICLTR FIGDSKVMKW GGSSFQDIQR MPSRGSMVFQ 

       490        500        510        520        530        540 
PLQINNYQYA ILGSDYSFTQ VYNWDAEKAK FVKFQELNVQ APRSFTHVSI NKRNFLFASS 

       550 
FKGNTQIYKH VIVDLSA 

« Hide

Isoform 2 [UniParc].

Checksum: BC10E3E110E016D0
Show »

FASTA29133,121
Isoform 3 [UniParc].

Checksum: EA28D9DACAFE97BD
Show »

FASTA50958,302

References

« Hide 'large scale' references
[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]"Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy."
Morante-Redolat J.M., Gorostidi-Pagola A., Piquer-Sirerol S., Saenz A., Poza J.J., Galan J., Gesk S., Sarafidou T., Mautner V.F., Binelli S., Staub E., Hinzmann B., French L., Prud'homme J.-F., Passarelli D., Scannapieco P., Tassinari C.A., Avanzini G. expand/collapse author list , Marti-Masso J.F., Kluwe L., Deloukas P., Moschonas N.K., Michelucci R., Siebert R., Nobile C., Perez-Tur J., Lopez de Munain A.
Hum. Mol. Genet. 11:1119-1128(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), DISEASE.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface."
Sirerol-Piquer M.S., Ayerdi-Izquierdo A., Morante-Redolat J.M., Herranz-Perez V., Favell K., Barker P.A., Perez-Tur J.
Hum. Mol. Genet. 15:3436-3445(2006) [PubMed] [Europe PMC] [Abstract]
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]"Two novel epilepsy-linked mutations leading to a loss of function of LGI1."
Chabrol E., Popescu C., Gourfinkel-An I., Trouillard O., Depienne C., Senechal K., Baulac M., LeGuern E., Baulac S.
Arch. Neurol. 64:217-222(2007) [PubMed] [Europe PMC] [Abstract]
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]"Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features."
Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Boneschi F.M., Choi C., Morozov P., Das K., Teplitskaya E., Yu A., Cayanis E., Penchaszadeh G., Kottmann A.H., Pedley T.A., Hauser W.A., Ottman R., Gilliam T.C.
Nat. Genet. 30:335-341(2002) [PubMed] [Europe PMC] [Abstract]
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]"LGI1 mutations in temporal lobe epilepsies."
Berkovic S.F., Izzillo P., McMahon J.M., Harkin L.A., McIntosh A.M., Phillips H.A., Briellmann R.S., Wallace R.H., Mazarib A., Neufeld M.Y., Korczyn A.D., Scheffer I.E., Mulley J.C.
Neurology 62:1115-1119(2004) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS7431.1. [O95970-1]
RefSeqNP_005088.1. NM_005097.2. [O95970-1]
XP_005270329.1. XM_005270272.1. [O95970-2]
UniGeneHs.533670.

3D structure databases

ProteinModelPortalO95970.
SMRO95970. Positions 42-240.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114645. 2 interactions.
STRING9606.ENSP00000360472.

PTM databases

PhosphoSiteO95970.

Proteomic databases

PaxDbO95970.
PRIDEO95970.

Protocols and materials databases

DNASU9211.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371413; ENSP00000360467; ENSG00000108231. [O95970-2]
ENST00000371418; ENSP00000360472; ENSG00000108231. [O95970-1]
ENST00000542308; ENSP00000440763; ENSG00000108231. [O95970-3]
GeneID9211.
KEGGhsa:9211.
UCSCuc001kjc.4. human. [O95970-1]
uc010qnv.2. human. [O95970-3]
uc021pwk.1. human. [O95970-2]

Organism-specific databases

CTD9211.
GeneCardsGC10P095507.
GeneReviewsLGI1.
HGNCHGNC:6572. LGI1.
HPAHPA054482.
MIM600512. phenotype.
604619. gene.
neXtProtNX_O95970.
Orphanet101046. Autosomal dominant epilepsy with auditory features.
PharmGKBPA30349.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304734.
HOVERGENHBG036744.
InParanoidO95970.
OMARGNAFNC.
OrthoDBEOG78SQHH.
PhylomeDBO95970.
TreeFamTF333155.

Gene expression databases

BgeeO95970.
CleanExHS_LGI1.
GenevestigatorO95970.

Family and domain databases

InterProIPR000483. 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]
PfamPF03736. EPTP. 7 hits.
PF13855. LRR_8. 1 hit.
[Graphical view]
SMARTSM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEPS50912. EAR. 7 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiLGI1.
GenomeRNAi9211.
NextBio34531.
PROO95970.
SOURCESearch...

Entry information

Entry nameLGI1_HUMAN
AccessionPrimary (citable) accession number: O95970
Secondary accession number(s): A8K0Z1 expand/collapse secondary AC list , B4E1S0, Q5W001, Q5W002, Q8NI23, Q96LF5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM