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Aliases for SLC5A7 Gene

Aliases for SLC5A7 Gene

  • Solute Carrier Family 5 (Sodium/Choline Cotransporter), Member 7 2 3
  • CHT1 3 4 6
  • Solute Carrier Family 5 (Choline Transporter), Member 7 2 3
  • Hemicholinium-3-Sensitive Choline Transporter 3 4
  • Solute Carrier Family 5 Member 7 3 4
  • HMN7A 3 6
  • CHT 3 4
  • High Affinity Choline Transporter; Hemicholinium-3-Sensitive Choline Transporter 3
  • High Affinity Choline Transporter 1 3
  • HCHT 3

External Ids for SLC5A7 Gene

Previous GeneCards Identifiers for SLC5A7 Gene

  • GC02P106508
  • GC02P107083
  • GC02P108207
  • GC02P108224
  • GC02P108061
  • GC02P108602
  • GC02P102202

Summaries for SLC5A7 Gene

Entrez Gene Summary for SLC5A7 Gene

  • Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000 [PubMed 11027560]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC5A7 Gene

SLC5A7 (Solute Carrier Family 5 (Sodium/Choline Cotransporter), Member 7) is a Protein Coding gene. Diseases associated with SLC5A7 include neuronopathy, distal hereditary motor, type viia and distal hereditary motor neuropathy type 7. Among its related pathways are Circadian entrainment and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include choline transmembrane transporter activity and choline:sodium symporter activity.

UniProtKB/Swiss-Prot for SLC5A7 Gene

  • Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A7 Gene

Genomics for SLC5A7 Gene

Regulatory Elements for SLC5A7 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC5A7 Gene

107,986,523 bp from pter
108,013,994 bp from pter
27,472 bases
Plus strand

Genomic View for SLC5A7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC5A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A7 Gene

Proteins for SLC5A7 Gene

  • Protein details for SLC5A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    High affinity choline transporter 1
    Protein Accession:
    Secondary Accessions:
    • Q53TF2

    Protein attributes for SLC5A7 Gene

    580 amino acids
    Molecular mass:
    63204 Da
    Quaternary structure:
    • Homo-oligomerizes at cell surface.
    • Specifically inhibited by nanomolar concentrations of hemicholinium 3

neXtProt entry for SLC5A7 Gene

Proteomics data for SLC5A7 Gene at MOPED

Post-translational modifications for SLC5A7 Gene

Other Protein References for SLC5A7 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC5A7 Gene

Domains for SLC5A7 Gene

Gene Families for SLC5A7 Gene


Protein Domains for SLC5A7 Gene


Suggested Antigen Peptide Sequences for SLC5A7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A7: view

Function for SLC5A7 Gene

Molecular function for SLC5A7 Gene

UniProtKB/Swiss-Prot Function:
Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.

Gene Ontology (GO) - Molecular Function for SLC5A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0005307 choline:sodium symporter activity IMP 12237312
GO:0005515 protein binding --
GO:0015220 choline transmembrane transporter activity IMP 11068039
GO:0033265 choline binding IEA --
genes like me logo Genes that share ontologies with SLC5A7: view
genes like me logo Genes that share phenotypes with SLC5A7: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC5A7 Gene

Localization for SLC5A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A7 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for SLC5A7 Gene COMPARTMENTS Subcellular localization image for SLC5A7 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC5A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 11027560
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SLC5A7: view

Pathways for SLC5A7 Gene

genes like me logo Genes that share pathways with SLC5A7: view

Interacting Proteins for SLC5A7 Gene

Gene Ontology (GO) - Biological Process for SLC5A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006814 sodium ion transport IEA --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007271 synaptic transmission, cholinergic IEA --
genes like me logo Genes that share ontologies with SLC5A7: view

Drugs for SLC5A7 Gene

(1) Drugbank Compounds for SLC5A7 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • Bilineurine
62-49-7 Transporter substrate approved, nutraceutical

(3) HMDB Compounds for SLC5A7 Gene

Compound Synonyms Cas Number PubMed IDs
Chloride ion
  • Bertholite
  • (2-Hydroxyethyl)trimethyl ammonium
  • Sodium

(2) IUPHAR Ligand for SLC5A7 Gene

Ligand Type Action Affinity Pubmed IDs
[3H]hemicholinium-3 None None 8.4
hemicholinium-3 Inhibitor Inhibition 4.5

(3) Novoseek inferred chemical compound relationships for SLC5A7 Gene

Compound -log(P) Hits PubMed IDs
choline 87.9 98
acetylcholine 73.7 22
glucose 0 2
genes like me logo Genes that share compounds with SLC5A7: view

Transcripts for SLC5A7 Gene

mRNA/cDNA for SLC5A7 Gene

(11) Selected AceView cDNA sequences:
(7) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC5A7 Gene

Solute carrier family 5 (choline transporter), member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC5A7

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A7 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9

Relevant External Links for SLC5A7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC5A7 Gene

mRNA expression in normal human tissues for SLC5A7 Gene

mRNA differential expression in normal tissues according to GTEx for SLC5A7 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (8.4), Brain - Caudate (basal ganglia) (7.5), Colon - Sigmoid (5.6), and Bladder (4.7).

Protein differential expression in normal tissues for SLC5A7 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC5A7 Gene

SOURCE GeneReport for Unigene cluster for SLC5A7 Gene Hs.287758

mRNA Expression by UniProt/SwissProt for SLC5A7 Gene

Tissue specificity: Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons
genes like me logo Genes that share expressions with SLC5A7: view

Expression partners for SLC5A7 Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for SLC5A7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A7 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SLC5A7 35
  • 84.25 (n)
  • 90.52 (a)
SLC5A7 36
  • 91 (a)
(Canis familiaris)
Mammalia SLC5A7 35
  • 88.89 (n)
  • 92.91 (a)
SLC5A7 36
  • 93 (a)
(Mus musculus)
Mammalia Slc5a7 35
  • 86.78 (n)
  • 92.93 (a)
Slc5a7 16
Slc5a7 36
  • 93 (a)
(Pan troglodytes)
Mammalia SLC5A7 35
  • 99.71 (n)
  • 99.83 (a)
SLC5A7 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Slc5a7 35
  • 87.47 (n)
  • 93.1 (a)
(Monodelphis domestica)
Mammalia SLC5A7 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia SLC5A7 36
  • 88 (a)
(Gallus gallus)
Aves SLC5A7 35
  • 78.26 (n)
  • 85.47 (a)
SLC5A7 36
  • 85 (a)
(Anolis carolinensis)
Reptilia SLC5A7 36
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a7 35
  • 73.01 (n)
  • 81.14 (a)
(Danio rerio)
Actinopterygii si:dkey-24h22.4 35
  • 69.04 (n)
  • 75.56 (a)
SLC5A7 (1 of 2) 36
  • 72 (a)
SLC5A7 (2 of 2) 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7708 37
  • 58 (a)
CG7708 35
  • 57.95 (n)
  • 60.28 (a)
CG7708 36
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002366 35
  • 57.64 (n)
  • 58.89 (a)
(Caenorhabditis elegans)
Secernentea cho-1 37
  • 53 (a)
cho-1 35
  • 56.23 (n)
  • 54.44 (a)
cho-1 36
  • 49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11892 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
-- 36
  • 59 (a)
Species with no ortholog for SLC5A7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC5A7 Gene

Gene Tree for SLC5A7 (if available)
Gene Tree for SLC5A7 (if available)

Paralogs for SLC5A7 Gene

No data available for Paralogs for SLC5A7 Gene

Variants for SLC5A7 Gene

Sequence variations from dbSNP and Humsavar for SLC5A7 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs142599052 -- 108,000,164(+) ACACG(-/CA)CACAC intron-variant
rs142583411 other 107,993,066(+) GGACT(C/T)CTGTT reference, synonymous-codon
rs142481904 -- 108,012,937(+) GGCGG(-/GTTT)TTTTT utr-variant-3-prime
rs142475969 -- 107,985,276(+) GGGAA(A/G)TAACT upstream-variant-2KB
rs142367765 -- 107,993,209(+) CCTTG(G/T)CTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC5A7 Gene

Variant ID Type Subtype PubMed ID
esv2720498 CNV Deletion 23290073
dgv1233e1 CNV Complex 17122850
dgv1234e1 CNV Complex 17122850
dgv724e199 CNV Deletion 23128226
nsv874768 CNV Gain 21882294
nsv874769 CNV Gain 21882294
nsv874770 CNV Loss 21882294
nsv527686 CNV Gain 19592680
dgv153e55 CNV Gain 17911159
nsv527491 CNV Loss 19592680
nsv469771 CNV Loss 16826518
nsv438365 CNV Loss 16468122
nsv834326 CNV Gain 17160897

Relevant External Links for SLC5A7 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A7 Gene

Disorders for SLC5A7 Gene

(1) OMIM Diseases for SLC5A7 Gene (608761)


  • Neuronopathy, distal hereditary motor, 7A (HMN7A) [MIM:158580]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve. {ECO:0000269 PubMed:23141292}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC5A7 Gene

(3) Novoseek inferred disease relationships for SLC5A7 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 41.5 4
dementia 16.3 1
parkinson disease 0 1

Relevant External Links for SLC5A7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SLC5A7: view

No data available for Genatlas for SLC5A7 Gene

Publications for SLC5A7 Gene

  1. Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. (PMID: 11027560) Apparsundaram S. … Blakely R.D. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 23
  2. Functional characterization of the human high-affinity choline transporter. (PMID: 11068039) Okuda T. … Haga T. (FEBS Lett. 2000) 3 4 23
  3. Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate. (PMID: 12237312) Okuda T. … Gurwitz D. (J. Biol. Chem. 2002) 3 4 23
  4. Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function. (PMID: 16876130) Neumann S.A. … Hariri A.R. (Biol. Psychiatry 2006) 3 23 48
  5. Heart rate variability is associated with polymorphic variation in the choline transporter gene. (PMID: 15784779) Neumann S.A. … Manuck S.B. (Psychosom Med 2005) 3 23 48

Products for SLC5A7 Gene

Sources for SLC5A7 Gene

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