Gene
syne1b
- ID
- ZDB-GENE-071218-4
- Name
- spectrin repeat containing, nuclear envelope 1b
- Symbol
- syne1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within heart development. Predicted to be located in cytoskeleton; membrane; and nucleus. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in cytoplasm and nuclear outer membrane. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita (multiple); bipolar disorder; cerebellar ataxia (multiple); and muscular dystrophy (multiple). Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 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 Haskell et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2927 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa7443 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa7444 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa8519 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8603 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8895 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa9065 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9773 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10324 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10495 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 10 of 34
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-syne1b | N/A | Haskell et al., 2017 |
| MO2-syne1b | N/A | Haskell et al., 2017 |
1 - 2 of 2
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arthrogryposis multiplex congenita-3 | Alliance | Arthrogryposis multiplex congenita 3, myogenic type | 618484 |
| autosomal dominant Emery-Dreifuss muscular dystrophy 4 | Alliance | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 612998 |
| autosomal recessive spinocerebellar ataxia 8 | Alliance | Spinocerebellar ataxia, autosomal recessive 8 | 610743 |
1 - 3 of 3
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR012315 | KASH domain |
| Domain | IPR047290 | Nesprin-1-like, first calponin homology domain |
| Domain | IPR047291 | Nesprin-1-like, second calponin homology domain |
1 - 5 of 8 Show all
Domain Details Per Protein
| Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | KASH domain | Nesprin-1-like, first calponin homology domain | Nesprin-1-like, second calponin homology domain | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6Z1N5 | InterPro | 8804 | ||||||||
| UniProtKB:A0A8M3AR55 | InterPro | 8816 | ||||||||
| UniProtKB:A0A8M6YT86 | InterPro | 8805 | ||||||||
| UniProtKB:A0A8M3B265 | InterPro | 8798 | ||||||||
| UniProtKB:A0A8M6Z2C7 | InterPro | 8815 |
1 - 5 of 6 Show all
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
syne1b-201
(1)
|
Ensembl | 26,133 nt | ||
| mRNA |
syne1b-202
(1)
|
Ensembl | 27,036 nt | ||
| mRNA |
syne1b-203
(1)
|
Ensembl | 870 nt |
1 - 3 of 3
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-37K10 | ZFIN Curated Data | |
| Contained in | BAC | CH211-195G8 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-38J10 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-260G24 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068214521 (1) | 27299 nt | ||
| Genomic | GenBank:BX511113 (2) | 191193 nt | ||
| Polypeptide | UniProtKB:A0A8M3AR55 (1) | 8816 aa |
- Li, Y.L., Cheng, X.N., Lu, T., Shao, M., Shi, D.L. (2021) Syne2b/Nesprin-2 Is Required for Actin Organization and Epithelial Integrity During Epiboly Movement in Zebrafish. Frontiers in cell and developmental biology. 9:671887
- 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
- Haskell, G.T., Jensen, B.C., Samsa, L.A., Marchuk, D., Huang, W., Skrzynia, C., Tilley, C., Seifert, B.A., Rivera-Muñoz, E.A., Koller, B., Wilhelmsen, K.C., Liu, J., Alhosaini, H., Weck, K.E., Evans, J.P., Berg, J.S. (2017) Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. Circulation. Cardiovascular genetics. 10(3):e001443
- Zhou, C., Li, C., Zhou, B., Sun, H., Koullourou, V., Holt, I., Puckelwartz, M.J., Warren, D.T., Hayward, R., Lin, Z., Zhang, L., Morris, G.E., McNally, E.M., Shackleton, S., Rao, L., Shanahan, C.M., Zhang, Q. (2017) Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis. Human molecular genetics. 26(12):2258-2276
- 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
- Shih, Y.H., Zhang, Y., Ding, Y., Ross, C.A., Li, H., Olson, T.M., Xu, X. (2015) Cardiac Transcriptome and Dilated Cardiomyopathy Genes in Zebrafish. Circulation. Cardiovascular genetics. 8(2):261-9
- Tsujikawa, M., Omori, Y., Biyanwila, J., and Malicki, J. (2007) Mechanism of positioning the cell nucleus in vertebrate photoreceptors. Proceedings of the National Academy of Sciences of the United States of America. 104(37):14819-14824
1 - 8 of 8
Show