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 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 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 congenital myasthenic syndrome 20; distal hereditary motor neuronopathy type 7A; and mental depression. Orthologous to human SLC5A7 (solute carrier family 5 member 7).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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
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

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
Family	IPR052244	High-affinity choline transporter
Homologous_superfamily	IPR038377	Sodium/glucose symporter superfamily

Domain Details Per Protein

Protein	Length	High-affinity choline transporter	Sodium/glucose symporter superfamily	Sodium/solute symporter
UniProtKB:A0A8M9PXI7 InterPro	591
UniProtKB:F1Q620 InterPro	592

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	slc5a7a-201 (1) Ensembl	Ensembl		5,150 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations