Seroatlas · Human Serome Atlas

SLC46A1

Proton-coupled folate transporter

Also known as: HCP1, hPCFT, HsPCFT, MGC9564, PCFT, PCFT_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96NT5
Gene
SLC46A1
Ensembl
ENSG00000076351
Chromosome
17
Canonical length
459 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

459 residues, UniProt reviewed canonical sequence.

>Q96NT5|SLC46A1
     1  MEGSASPPEK PRARPAAAVL CRGPVEPLVF LANFALVLQG PLTTQYLWHR FSADLGYNGT
    61  RQRGGCSNRS ADPTMQEVET LTSHWTLYMN VGGFLVGLFS STLLGAWSDS VGRRPLLVLA
   121  SLGLLLQALV SVFVVQLQLH VGYFVLGRIL CALLGDFGGL LAASFASVAD VSSSRSRTFR
   181  MALLEASIGV AGMLASLLGG HWLRAQGYAN PFWLALALLI AMTLYAAFCF GETLKEPKST
   241  RLFTFRHHRS IVQLYVAPAP EKSRKHLALY SLAIFVVITV HFGAQDILTL YELSTPLCWD
   301  SKLIGYGSAA QHLPYLTSLL ALKLLQYCLA DAWVAEIGLA FNILGMVVFA FATITPLMFT
   361  GYGLLFLSLV ITPVIRAKLS KLVRETEQGA LFSAVACVNS LAMLTASGIF NSLYPATLNF
   421  MKGFPFLLGA GLLLIPAVLI GMLEKADPHL EFQQFPQSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC46A1 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
12
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
88 nTPM

Expression across tissuesHPA

Tissue

  • duodenum: 88 nTPM
  • small intestine: 38 nTPM
  • choroid plexus: 38 nTPM
  • liver: 27 nTPM
  • adrenal gland: 23 nTPM
  • thymus: 22 nTPM

Single-cell type

  • epicardial cells: 82 nCPM
  • kupffer cells: 61 nCPM
  • hofbauer cells: 46 nCPM
  • hepatocytes: 37 nCPM
  • late spermatids: 35 nCPM
  • fallopian tube ciliated cells: 28 nCPM

Immune cell

  • basophil: 5.3 nTPM
  • intermediate monocyte: 3.1 nTPM
  • non-classical monocyte: 2.6 nTPM
  • memory B-cell: 1.6 nTPM
  • NK-cell: 1.6 nTPM
  • myeloid DC: 1.4 nTPM

Brain region

  • choroid plexus: 64 nTPM
  • cerebellum: 38 nTPM
  • white matter: 32 nTPM
  • medulla oblongata: 31 nTPM
  • basal ganglia: 29 nTPM
  • midbrain: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC46A1.

Disease | AllUniProt

Conditions SLC46A1 is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 413 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)
0.78
gnomAD pLI
0.02
gnomAD missense Z
1.24

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC46A1 as an antibody target. Whether an autoantibody or antibody against SLC46A1 could matter depends on whether native SLC46A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC46A1 is annotated at the cell surface, where native SLC46A1 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 SLC46A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC46A1. 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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