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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
  • CHT 3 4
  • High Affinity Choline Transporter; Hemicholinium-3-Sensitive Choline Transporter 3
  • Solute Carrier Family 5 (Choline Transporter), Member 7 2
  • Hemicholinium-3-Sensitive Choline Transporter 4
  • Solute Carrier Family 5 Member 7 4
  • HMN7A 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

  • This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

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 distal hereditary motor neuropathy type 7 and neuronopathy, distal hereditary motor, type viia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transmission across Chemical Synapses. GO annotations related to this gene include transporter activity and choline transmembrane transporter 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

107,986,487 bp from pter
108,014,207 bp from pter
27,721 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

Antibody Products

No data available for DME Specific Peptides for SLC5A7 Gene

Domains & Families 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 , 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
cytosol 1
endosome 1
extracellular 1
lysosome 1
nucleus 1
vacuole 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 & Interactions 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

No data available for SIGNOR curated interactions for SLC5A7 Gene

Drugs & Compounds for SLC5A7 Gene

(4) Drugs for SLC5A7 Gene - From: IUPHAR, DGIdb, NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Transporter, substrate 122
Acetylcholine Experimental Pharma Full agonist, Agonist 104
[<sup>3</sup>H]hemicholinium-3 Pharma 0
hemicholinium-3 Pharma Inhibition, Inhibitor 0

(3) Additional Compounds for SLC5A7 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
  • Sodium
  • Sodium ion
genes like me logo Genes that share compounds with SLC5A7: view

Transcripts for SLC5A7 Gene

mRNA/cDNA for SLC5A7 Gene

(7) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(11) Selected AceView cDNA 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) (x8.4), Brain - Caudate (basal ganglia) (x7.5), Colon - Sigmoid (x5.6), and Bladder (x4.7).

Protein differential expression in normal tissues from HIPED for SLC5A7 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC5A7: view

Protein tissue co-expression partners for SLC5A7 Gene

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
rs333213 -- 108,000,567(-) taatc(C/G)tagca intron-variant
rs333214 -- 107,995,735(-) AATGG(C/T)GAACT intron-variant
rs333215 -- 107,994,365(-) acctc(A/G)tgatc intron-variant
rs333216 -- 107,994,099(-) ACAGT(C/T)TCAAC intron-variant
rs333217 -- 107,993,808(-) CTTCT(C/T)TAGGA 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

Variation tolerance for SLC5A7 Gene

Residual Variation Intolerance Score: 37.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.20; 61.99% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(7) MalaCards diseases for SLC5A7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
distal hereditary motor neuropathy type 7
  • distal spinal muscular atrophy with vocal cord paralysis
neuronopathy, distal hereditary motor, type viia
  • distal hereditary motor neuropathy, type viia
anal canal adenocarcinoma
  • adenocarcinoma of the anal canal
anus adenocarcinoma
  • adenocarcinoma of anus
tracheal cancer
  • tracheal neoplasm
- elite association


  • 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.

Relevant External Links for SLC5A7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SLC5A7: view

No data available for Genatlas for SLC5A7 Gene

Publications for SLC5A7 Gene

  1. Constitutive high-affinity choline transporter endocytosis is determined by a carboxyl-terminal tail dileucine motif. (PMID: 15953352) Ribeiro F.M. … Ferguson S.S. (J. Neurochem. 2005) 23 25 67
  2. Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. (PMID: 11027560) Apparsundaram S. … Blakely R.D. (Biochem. Biophys. Res. Commun. 2000) 2 23 67
  3. Influence of multidrug resistance on (18)F-FCH cellular uptake in a glioblastoma model. (PMID: 19300998) Vanpouille C. … Perek N. (Eur. J. Nucl. Med. Mol. Imaging 2009) 23 67
  4. Expression of SLURP-1, an endogenous alpha7 nicotinic acetylcholine receptor allosteric ligand, in murine bronchial epithelial cells. (PMID: 19396877) Horiguchi K. … Kawashima K. (J. Neurosci. Res. 2009) 23 67
  5. Localization of multiple neurotransmitters in surgically derived specimens of human atrial ganglia. (PMID: 19747529) Hoover D.B. … Armour J.A. (Neuroscience 2009) 23 67

Products for SLC5A7 Gene

Sources for SLC5A7 Gene

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