O95970 (LGI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Leucine-rich glioma-inactivated protein 1

Alternative name(s):
Epitempin-1

Gene names

Name:	LGI1
Synonyms:	EPT
ORF Names:	UNQ775/PRO1569

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	557 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 junction › synapse 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.

Ontologies

Keywords
Cellular component	Cell junction Secreted Synapse
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Epilepsy
Domain	Leucine-rich repeat Repeat Signal
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axon guidance Inferred from mutant phenotype PubMed 20463223. Source: DFLAT cell proliferation Traceable author statement Ref.1. Source: ProtInc positive regulation of cell growth Inferred from mutant phenotype PubMed 20463223. Source: DFLAT positive regulation of synaptic transmission Inferred from sequence or structural similarity. Source: UniProtKB protein homooligomerization Inferred from electronic annotation. Source: Compara
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell extracellular space Inferred from direct assay Ref.10. Source: UniProtKB synapse Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 34	34	Potential
	Chain	35 – 557	523	Leucine-rich glioma-inactivated protein 1		PRO_0000017705
Regions
	Domain	35 – 72	38	LRRNT
	Repeat	92 – 113	22	LRR 1
	Repeat	116 – 137	22	LRR 2
	Repeat	140 – 161	22	LRR 3
	Domain	173 – 223	51	LRRCT
	Repeat	224 – 267	44	EAR 1
	Repeat	270 – 313	44	EAR 2
	Repeat	316 – 364	49	EAR 3
	Repeat	365 – 415	51	EAR 4
	Repeat	418 – 462	45	EAR 5
	Repeat	463 – 506	44	EAR 6
	Repeat	509 – 552	44	EAR 7
Amino acid modifications
	Glycosylation	192	1	N-linked (GlcNAc...) Potential
	Glycosylation	277	1	N-linked (GlcNAc...) Potential
	Glycosylation	422	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	96 – 143	48	Missing in isoform 3.		VSP_038234
	Alternative sequence	280 – 291	12	GTSTV…KPIVI → VLREIHRFTNMS in isoform 2.		VSP_007678
	Alternative sequence	292 – 557	266	Missing in isoform 2.		VSP_007679
	Natural variant	26	1	L → R in ETL1; probably affects signal sequence processing and secretion. Ref.17		VAR_015771
	Natural variant	42	1	C → G in ETL1. Ref.19		VAR_023008
	Natural variant	42	1	C → R in ETL1.		VAR_058538
	Natural variant	46	1	C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. Ref.10 Ref.16		VAR_015772
	Natural variant	110	1	A → D in ETL1.		VAR_058539
	Natural variant	122	1	I → K in ETL1. Ref.21		VAR_058540
	Natural variant	123	1	E → K in ETL1. Ref.22		VAR_058541
	Natural variant	136	1	R → W in ETL1. Ref.20		VAR_058542
	Natural variant	145	1	S → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. Ref.10		VAR_058543
	Natural variant	154	1	L → P in ETL1.		VAR_058544
	Natural variant	200	1	C → R in ETL1; loss of protein secretion; does not affect glycosylation status of the protein. Ref.10		VAR_058545
	Natural variant	232	1	L → P in ETL1; loss of protein secretion. Ref.13		VAR_058546
	Natural variant	298	1	I → T in ETL1.		VAR_058547
	Natural variant	318	1	F → 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 variant	383	1	E → 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 variant	432	1	V → E in ETL1.		VAR_058548
	Natural variant	473	1	S → L in ETL1. Ref.19		VAR_023009
Experimental info
	Mutagenesis	192	1	N → 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
	Mutagenesis	277	1	N → 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
	Mutagenesis	422	1	N → 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		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 890EEDA08D95C854	FASTA	557	63,818
	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
	Isoform 2 [UniParc]. Checksum: BC10E3E110E016D0	FASTA	291	33,121
	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 TFSYLNDEYV VIAQPFTGKC IFLEWDHVEK TFRNYDNITV LREIHRFTNM S
	Isoform 3 [UniParc]. Checksum: EA28D9DACAFE97BD	FASTA	509	58,302
	10 20 30 40 50 60 MESERSKRMG NACIPLKRIA YFLCLLSALL LTEGKKPAKP KCPAVCTCTK DNALCENARS 70 80 90 100 110 120 IPRTVPPDVI SLSFVRSGFT EISEGSFLFT PSLQLLSLAN NNLQTLPKDI FKGLDSLTNV 130 140 150 160 170 180 DLRGNSFNCD CKLKWLVEWL GHTNATVEDI YCEGPPEYKK RKINSLSSKD FDCIITEFAK 190 200 210 220 230 240 SQDLPYQSLS IDTFSYLNDE YVVIAQPFTG KCIFLEWDHV EKTFRNYDNI TGTSTVVCKP 250 260 270 280 290 300 IVIETQLYVI VAQLFGGSHI YKRDSFANKF IKIQDIEILK IRKPNDIETF KIENNWYFVV 310 320 330 340 350 360 ADSSKAGFTT IYKWNGNGFY SHQSLHAWYR DTDVEYLEIV RTPQTLRTPH LILSSSSQRP 370 380 390 400 410 420 VIYQWNKATQ LFTNQTDIPN MEDVYAVKHF SVKGDVYICL TRFIGDSKVM KWGGSSFQDI 430 440 450 460 470 480 QRMPSRGSMV FQPLQINNYQ YAILGSDYSF TQVYNWDAEK AKFVKFQELN VQAPRSFTHV 490 500 SINKRNFLFA SSFKGNTQIY KHVIVDLSA

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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]	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. , 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.

Web resources

GeneReviews

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
IPI	IPI00021091. IPI00334395. IPI00945485.
RefSeq	NP_005088.1. NM_005097.2.
UniGene	Hs.533670.
3D structure databases
ProteinModelPortal	O95970.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000360472.
PTM databases
PhosphoSite	O95970.
Proteomic databases
PaxDb	O95970.
PRIDE	O95970.
Protocols and materials databases
DNASU	9211.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371413; ENSP00000360467; ENSG00000108231. ENST00000371418; ENSP00000360472; ENSG00000108231. ENST00000542308; ENSP00000440763; ENSG00000108231.
GeneID	9211.
KEGG	hsa:9211.
UCSC	uc001kjc.4. human. uc010qnv.2. human. uc021pwk.1. human.
Organism-specific databases
CTD	9211.
GeneCards	GC10P095507.
HGNC	HGNC:6572. LGI1.
HPA	HPA054482.
MIM	600512. phenotype. 604619. gene.
neXtProt	NX_O95970.
Orphanet	101046. Autosomal dominant lateral temporal lobe epilepsy.
PharmGKB	PA30349.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG304734.
HOVERGEN	HBG036744.
InParanoid	O95970.
OMA	GFANKFI.
OrthoDB	EOG4PZJ6C.
PhylomeDB	O95970.
Gene expression databases
Bgee	O95970.
CleanEx	HS_LGI1.
Genevestigator	O95970.
GermOnline	ENSG00000108231. Homo sapiens.
Family and domain databases
InterPro	IPR000483. Cys-rich_flank_reg_C. IPR009039. EAR. IPR005492. EPTP. IPR003591. Leu-rich_rpt_typical-subtyp. IPR000372. LRR-contain_N. [Graphical view]
Pfam	PF03736. EPTP. 7 hits. [Graphical view]
SMART	SM00369. LRR_TYP. 2 hits. SM00082. LRRCT. 1 hit. SM00013. LRRNT. 1 hit. [Graphical view]
PROSITE	PS50912. EAR. 7 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9211.
NextBio	34531.
SOURCE	Search...

Entry information

Entry name

LGI1_HUMAN

Accession

Primary (citable) accession number: O95970
Secondary accession number(s): A8K0Z1 , B4E1S0, Q5W001, Q5W002, Q8NI23, Q96LF5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 3, 2003
Last sequence update:	May 1, 1999
Last modified:	May 1, 2013
This is version 114 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.