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 monoatomic ion transport and transmembrane transport. Predicted to be located in 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 | |
| zko638b | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-slc5a7a | China Zebrafish Resource Center (CZRC) | |
| 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 |
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 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc5a7a-201
(1)
|
Ensembl | 5,150 nt |
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
- 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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