Seroatlas · Human Serome Atlas

SLC6A19

Sodium-dependent neutral amino acid transporter B(0)AT1

Also known as: B0AT1, S6A19_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q695T7
Gene
SLC6A19
Ensembl
ENSG00000174358
Chromosome
5
Canonical length
634 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]

Canonical amino-acid sequenceUniProt

634 residues, UniProt reviewed canonical sequence.

>Q695T7|SLC6A19
     1  MVRLVLPNPG LDARIPSLAE LETIEQEEAS SRPKWDNKAQ YMLTCLGFCV GLGNVWRFPY
    61  LCQSHGGGAF MIPFLILLVL EGIPLLYLEF AIGQRLRRGS LGVWSSIHPA LKGLGLASML
   121  TSFMVGLYYN TIISWIMWYL FNSFQEPLPW SDCPLNENQT GYVDECARSS PVDYFWYRET
   181  LNISTSISDS GSIQWWMLLC LACAWSVLYM CTIRGIETTG KAVYITSTLP YVVLTIFLIR
   241  GLTLKGATNG IVFLFTPNVT ELAQPDTWLD AGAQVFFSFS LAFGGLISFS SYNSVHNNCE
   301  KDSVIVSIIN GFTSVYVAIV VYSVIGFRAT QRYDDCFSTN ILTLINGFDL PEGNVTQENF
   361  VDMQQRCNAS DPAAYAQLVF QTCDINAFLS EAVEGTGLAF IVFTEAITKM PLSPLWSVLF
   421  FIMLFCLGLS SMFGNMEGVV VPLQDLRVIP PKWPKEVLTG LICLGTFLIG FIFTLNSGQY
   481  WLSLLDSYAG SIPLLIIAFC EMFSVVYVYG VDRFNKDIEF MIGHKPNIFW QVTWRVVSPL
   541  LMLIIFLFFF VVEVSQELTY SIWDPGYEEF PKSQKISYPN WVYVVVVIVA GVPSLTIPGY
   601  AIYKLIRNHC QKPGDHQGLV STLSTASMNG DLKY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC6A19 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)
0.23
Highest tissue expression
134 nTPM

Expression across tissuesHPA

Tissue

  • small intestine: 134 nTPM
  • duodenum: 132 nTPM
  • kidney: 83 nTPM
  • rectum: 5.2 nTPM
  • colon: 4.7 nTPM
  • gallbladder: 3.1 nTPM

Single-cell type

  • enterocytes: 677 nCPM
  • proximal tubule cells: 81 nCPM
  • cholangiocytes: 52 nCPM
  • colonocytes: 44 nCPM
  • extravillous trophoblasts: 25 nCPM
  • neuroendocrine cells: 23 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

  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebellum: 0 nTPM
  • cerebral cortex: 0 nTPM
  • choroid plexus: 0 nTPM
  • hippocampal formation: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC6A19.

Disease | AllUniProt

Conditions SLC6A19 is implicated in, by any mechanism.

Disease | GeneticClinVar

42 pathogenic / likely-pathogenic of 585 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neutral 1 amino acid transport defect
  • Hyperglycinuria
  • Iminoglycinuria
  • SLC6A19-related disorder
  • Gastric cancer

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)
1.42
gnomAD pLI
0
gnomAD missense Z
-0.04
DepMap mean gene effect
0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 SLC6A19 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 SLC6A19 as an antibody target. Whether an autoantibody or antibody against SLC6A19 could matter depends on whether native SLC6A19 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC6A19 is annotated at the cell surface, where native SLC6A19 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 SLC6A19 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC6A19. 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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