Gene
slc5a7a
- ID
- ZDB-GENE-090313-273
- Name
- solute carrier family 5 member 7a
- Symbol
- slc5a7a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable choline:sodium symporter activity. Predicted to be involved in acetylcholine biosynthetic process; chemical synaptic transmission; and choline transport. Predicted to act upstream of or within sodium ion transport. Predicted to be located in presynaptic membrane. Predicted to be active in several cellular components, including axon; dendrite; and perikaryon. Is expressed in brain; dorsal habenular nucleus; midbrain; spinal cord; and spinal cord neural tube. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 7; congenital myasthenic syndrome 20; and depressive disorder. Orthologous to human SLC5A7 (solute carrier family 5 member 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| c662Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| p417 | Allele with one point mutation | Exon 5 | Unknown | ENU | |
| sa6594 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38275 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39640 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zko638a | Allele with one delins | Unknown | Unknown | CRISPR | |
| zko638b | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-slc5a7a | (2) | |
| CRISPR2-slc5a7a | Choi et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 7 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 7 | 158580 |
| congenital myasthenic syndrome 20 | Alliance | Myasthenic syndrome, congenital, 20, presynaptic | 617143 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | High-affinity choline transporter | Sodium/glucose symporter superfamily | Sodium/solute symporter |
|---|---|---|---|---|---|
| UniProtKB:A0A8M9PXI7 | InterPro | 591 | |||
| UniProtKB:F1Q620 | InterPro | 592 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc5a7a-201
(1)
|
Ensembl | 5,150 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(mnx1:slc5a7a,mnx1:mKate) |
|
| 1 | Meserve et al., 2021 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-24H22 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068221411 (1) | 5171 nt | ||
| Genomic | GenBank:BX901972 (1) | 212798 nt | ||
| Polypeptide | UniProtKB:F1Q620 (1) | 592 aa |
- Choi, J.H., Duboue, E.R., Macurak, M., Chanchu, J.M., Halpern, M.E. (2021) Specialized neurons in the right habenula mediate response to aversive olfactory cues. eLIFE. 10:
- Meserve, J.H., Nelson, J.C., Marsden, K.C., Hsu, J., Echeverry, F.A., Jain, R.A., Wolman, M.A., Pereda, A.E., Granato, M. (2021) A forward genetic screen identifies Dolk as a regulator of startle magnitude through the potassium channel subunit Kv1.1. PLoS Genetics. 17:e1008943
- Zhang, H., Wang Haifang, H., Shen, X., Jia, X., Yu, S., Qiu, X., Wang, Y., Du, J., Yan, J., He, J. (2021) The landscape of regulatory genes in brain-wide neuronal phenotypes of a vertebrate brain. eLIFE. 10:
- Rima, M., Lattouf, Y, Abi Younes, M., Bullier, E., Legendre, P., Mangin, J.M., Hong, E. (2020) Dynamic regulation of the cholinergic system in the spinal central nervous system. Scientific Reports. 10(1):15338
- Henriques, P.M., Rahman, N., Jackson, S.E., Bianco, I.H. (2019) Nucleus Isthmi Is Required to Sustain Target Pursuit during Visually Guided Prey-Catching. Current biology : CB. 29(11):1771-1786.e5
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
- 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
- Hong, E., Santhakumar, K., Akitake, C.A., Ahn, S.J., Thisse, C., Thisse, B., Wyart, C., Mangin, J.M., and Halpern, M.E. (2013) Cholinergic left-right asymmetry in the habenulo-interpeduncular pathway. Proceedings of the National Academy of Sciences of the United States of America. 110(52):21171-21176
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