| ZFIN ID: ZDB-GENE-090313-273 |
| Gene Name: | solute carrier family 5 member 7a | |||||||||||||
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| Gene Symbol: | slc5a7a Nomenclature History |
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Attributions
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| Previous Names: | hacta (1), high affinity choline transporter a (1), si:dkey-24h22.4 | |||||||||||||
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| Gene Type: | protein_coding_gene | |||||||||||||
| Location: | Chr: 1 Mapping Details/Browsers | |||||||||||||
| Description: | Predicted to have choline:sodium symporter activity. Predicted to be involved in acetylcholine biosynthetic process; chemical synaptic transmission; and choline transport. Predicted to localize to several cellular components, including axon; dendrite; and perikaryon. Is expressed in dorsal habenular nucleus. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 20 and distal hereditary motor neuronopathy type 7A. Orthologous to human SLC5A7 (solute carrier family 5 member 7). | |||||||||||||
| Genome Resources: | Alliance (1), Gene:100005589 (1), Ensembl(GRCz11):ENSDARG00000074860 (2) | |||||||||||||
| All Expression Data: | 2 figures from Hong et al., 2013 |
| Wild-type Stages, Structures: | Larval:Day 4 (96.0h-120.0h) to Adult (90d-730d, breeding adult) |
MUTATIONS AND SEQUENCE TARGETING REAGENTS
| Allele | Type | Localization | Consequence | Mutagen | Suppliers |
|---|---|---|---|---|---|
| sa6594 | Point Mutation | Unknown | Premature Stop | ENU | |
| sa38275 | Point Mutation | Unknown | Splice Site | ENU |
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| sa39640 | Point Mutation | Unknown | Premature Stop | ENU |
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| zko638b | Small Deletion | Unknown | Unknown | CRISPR |
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Sequence Targeting Reagents
| Targeting Reagent | Created Alleles | Publications |
|---|---|---|
| CRISPR1-slc5a7a | 1 |
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 20 | Alliance | Myasthenic syndrome, congenital, 20, presynaptic | 617143 |
| distal hereditary motor neuronopathy type 7A | Alliance | Neuronopathy, distal hereditary motor, type VIIA | 158580 |
GENE ONTOLOGY
| Ontology | GO Term |
|---|---|
| Biological Process | transmembrane transport (more) |
| Cellular Component | membrane (more) |
| Molecular Function | transmembrane transporter activity (more) |
| Type | Name | Length (nt) | Analysis | |
|---|---|---|---|---|
| mRNA |
slc5a7a-201
(1)
|
5150 |
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| Browsers: NCBI, Ensembl, ZFIN |
INTERACTIONS AND PATHWAYS
ANTIBODIES
No data available
PLASMIDS
No data available
CONSTRUCTS WITH SEQUENCES FROM slc5a7a
No data available
SEQUENCE INFORMATION
| Type | Accession # | Length (nt/aa) | Analysis |
|---|---|---|---|
| RNA | RefSeq:XM_001344561 (1) |
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| Genomic | GenBank:BX901972 (1) | 212798 nt | Blast at MegaBLAST |
| Polypeptide | UniProtKB:F1Q620 (1) | 592 aa |
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ORTHOLOGY for slc5a7a (
Chr:
1
)
CITATIONS (16)