Seroatlas · Human Serome Atlas

SLC5A7

High affinity choline transporter 1

Also known as: CHT1, hCHT, SC5A7_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9GZV3
Gene
SLC5A7
Ensembl
ENSG00000115665
Chromosome
2
Canonical length
580 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Nuclear bodies,Cell Junctions,Intermediate filaments
Quaternary structure
Homooligomer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

580 residues, UniProt reviewed canonical sequence.

>Q9GZV3|SLC5A7
     1  MAFHVEGLIA IIVFYLLILL VGIWAAWRTK NSGSAEERSE AIIVGGRDIG LLVGGFTMTA
    61  TWVGGGYING TAEAVYVPGY GLAWAQAPIG YSLSLILGGL FFAKPMRSKG YVTMLDPFQQ
   121  IYGKRMGGLL FIPALMGEMF WAAAIFSALG ATISVIIDVD MHISVIISAL IATLYTLVGG
   181  LYSVAYTDVV QLFCIFVGLW ISVPFALSHP AVADIGFTAV HAKYQKPWLG TVDSSEVYSW
   241  LDSFLLLMLG GIPWQAYFQR VLSSSSATYA QVLSFLAAFG CLVMAIPAIL IGAIGASTDW
   301  NQTAYGLPDP KTTEEADMIL PIVLQYLCPV YISFFGLGAV SAAVMSSADS SILSASSMFA
   361  RNIYQLSFRQ NASDKEIVWV MRITVFVFGA SATAMALLTK TVYGLWYLSS DLVYIVIFPQ
   421  LLCVLFVKGT NTYGAVAGYV SGLFLRITGG EPYLYLQPLI FYPGYYPDDN GIYNQKFPFK
   481  TLAMVTSFLT NICISYLAKY LFESGTLPPK LDVFDAVVAR HSEENMDKTI LVKNENIKLD
   541  ELALVKPRQS MTLSSTFTNK EAFLDVDSSP EGSGTEDNLQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC5A7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
13
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
2.6 nTPM

Expression across tissuesHPA

Tissue

  • colon: 2.6 nTPM
  • basal ganglia: 2.2 nTPM
  • urinary bladder: 1.2 nTPM
  • seminal vesicle: 1.1 nTPM
  • thyroid gland: 1.1 nTPM
  • choroid plexus: 1 nTPM

Single-cell type

  • other brain neurons: 125 nCPM
  • retinal amacrine cells: 65 nCPM
  • schwann cells: 29 nCPM
  • urothelial cells: 21 nCPM
  • respiratory basal cells: 12 nCPM
  • prostatic hillock cells: 8.6 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • pons: 72 nTPM
  • midbrain: 45 nTPM
  • medulla oblongata: 43 nTPM
  • cerebral cortex: 31 nTPM
  • white matter: 15 nTPM
  • hypothalamus: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC5A7.

Disease | AllUniProt

Conditions SLC5A7 is implicated in, by any mechanism.

  • Neuronopathy, distal hereditary motor, autosomal dominant 7 (HMND7) MIM:158580
  • Myasthenic syndrome, congenital, 20, presynaptic (CMS20) MIM:617143

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 584 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.56
gnomAD pLI
0.02
gnomAD missense Z
2.81
DepMap mean gene effect
0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC5A7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC5A7 as an antibody target. Whether an autoantibody or antibody against SLC5A7 could matter depends on whether native SLC5A7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC5A7 is annotated at the cell surface, where native SLC5A7 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC5A7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC5A7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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