Gene
lgi1b
- ID
- ZDB-GENE-060217-1
- Name
- leucine-rich, glioma inactivated 1b
- Symbol
- lgi1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Acts upstream of or within brain morphogenesis and myelination. Predicted to be located in cytoplasm; extracellular region; and synapse. Predicted to be active in extracellular space. Is expressed in brain; eye; head mesenchyme; heart; and skeletal muscle. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-1; childhood absence epilepsy; and familial temporal lobe epilepsy 1. Orthologous to several human genes including LGI1 (leucine rich glioma inactivated 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Teng et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa131 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa19023 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22016 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41952 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45447 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial temporal lobe epilepsy 1 | Alliance | Epilepsy, familial temporal lobe, 1 | 600512 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000483 | Cysteine-rich flanking region, C-terminal |
| Family | IPR051295 | Leucine-rich glioma-inactivated/LGI-related |
| Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
| Repeat | IPR001611 | Leucine-rich repeat |
| Repeat | IPR003591 | Leucine-rich repeat, typical subtype |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Cysteine-rich flanking region, C-terminal | EAR | Leucine-rich glioma-inactivated , EPTP repeat | Leucine-rich glioma-inactivated/LGI-related | Leucine-rich repeat | Leucine-rich repeat domain superfamily | Leucine-rich repeat, typical subtype |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:B3DJS9 | InterPro | 543 | |||||||
| UniProtKB:F1R662 | InterPro | 543 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-197G18 | Teng et al., 2010 | |
| Encodes | cDNA | MGC:195239 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128769 (1) | 2019 nt | ||
| Genomic | GenBank:CU463858 (1) | 68987 nt | ||
| Polypeptide | UniProtKB:B3DJS9 (1) | 543 aa |
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Liu, F., Du, C., Tian, X., Ma, Y., Zhao, B., Yan, Y., Lin, Z., Lin, P., Zhou, R., Wang, X. (2019) A novel LGI1 missense mutation causes dysfunction in cortical neuronal migration and seizures. Brain research. 1721:146332
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Kegel, L., Jaegle, M., Driegen, S., Aunin, E., Leslie, K., Fukata, Y., Watanabe, M., Fukata, M., Meijer, D. (2014) Functional phylogenetic analysis of LGI proteins identifies an interaction motif crucial for myelination. Development (Cambridge, England). 141:1749-56
- Teng, Y., Xie, X., Walker, S., Saxena, M., Kozlowski, D.J., Mumm, J.S., and Cowell, J.K. (2011) Loss of Zebrafish lgi1b Leads to Hydrocephalus and Sensitization to Pentylenetetrazol Induced Seizure-Like Behavior. PLoS One. 6(9):e24596
- Teng, Y., Xie, X., Walker, S., Rempala, G., Kozlowski, D.J., Mumm, J.S., and Cowell, J.K. (2010) Knockdown of zebrafish Lgi1a results in abnormal development, brain defects and a seizure-like behavioral phenotype. Human molecular genetics. 19(22):4409-4420
- Gu, W., Gibert, Y., Wirth, T., Elischer, A., Bloch, W., Meyer, A., Steinlein, O.K., and Begemann, G. (2005) Using Gene-History and Expression Analyses to Assess the Involvement of LGI Genes in Human Disorders. Mol. Biol. Evol.. 22(11):2209-2216
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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