Gene

slc5a7a

ID
ZDB-GENE-090313-273
Name
solute carrier family 5 member 7a
Symbol
slc5a7a Nomenclature History
Previous Names
  • hacta (1)
  • high affinity choline transporter a (1)
  • si:dkey-24h22.4
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
Note
None
Expression
All Expression Data
2 figures from Hong et al., 2013
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc5a7a Human Ortholog
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
Associated With slc5a7a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR001734 Sodium/solute symporter
Homologous_superfamily IPR038377 Sodium/glucose symporter superfamily
Domain Details Per Protein
Protein Length Sodium/glucose symporter superfamily Sodium/solute symporter
UniProtKB:F1Q620 592
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations