Seroatlas · Human Serome Atlas

SLC3A1

Amino acid transporter heavy chain SLC3A1

Also known as: ATR1, CSNU1, D2H, NBAT, RBAT, SLC31_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q07837
Gene
SLC3A1
Ensembl
ENSG00000138079
Chromosome
2
Canonical length
685 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nuclear bodies,Mitochondria

OverviewNCBI Gene

This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

685 residues, UniProt reviewed canonical sequence.

>Q07837|SLC3A1
     1  MAEDKSKRDS IEMSMKGCQT NNGFVHNEDI LEQTPDPGSS TDNLKHSTRG ILGSQEPDFK
    61  GVQPYAGMPK EVLFQFSGQA RYRIPREILF WLTVASVLVL IAATIAIIAL SPKCLDWWQE
   121  GPMYQIYPRS FKDSNKDGNG DLKGIQDKLD YITALNIKTV WITSFYKSSL KDFRYGVEDF
   181  REVDPIFGTM EDFENLVAAI HDKGLKLIID FIPNHTSDKH IWFQLSRTRT GKYTDYYIWH
   241  DCTHENGKTI PPNNWLSVYG NSSWHFDEVR NQCYFHQFMK EQPDLNFRNP DVQEEIKEIL
   301  RFWLTKGVDG FSLDAVKFLL EAKHLRDEIQ VNKTQIPDTV TQYSELYHDF TTTQVGMHDI
   361  VRSFRQTMDQ YSTEPGRYRF MGTEAYAESI DRTVMYYGLP FIQEADFPFN NYLSMLDTVS
   421  GNSVYEVITS WMENMPEGKW PNWMIGGPDS SRLTSRLGNQ YVNVMNMLLF TLPGTPITYY
   481  GEEIGMGNIV AANLNESYDI NTLRSKSPMQ WDNSSNAGFS EASNTWLPTN SDYHTVNVDV
   541  QKTQPRSALK LYQDLSLLHA NELLLNRGWF CHLRNDSHYV VYTRELDGID RIFIVVLNFG
   601  ESTLLNLHNM ISGLPAKMRI RLSTNSADKG SKVDTSGIFL DKGEGLIFEH NTKNLLHRQT
   661  AFRDRCFVSN RACYSSVLNI LYTSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC3A1 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
1
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
605 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 605 nTPM
  • pancreas: 205 nTPM
  • small intestine: 128 nTPM
  • duodenum: 107 nTPM
  • gallbladder: 48 nTPM
  • liver: 34 nTPM

Single-cell type

  • proximal tubule cells: 273 nCPM
  • enterocytes: 206 nCPM
  • distal convoluted tubule cells: 201 nCPM
  • pancreatic duct cells: 200 nCPM
  • oocytes: 170 nCPM
  • endometrial luminal cells: 152 nCPM

Immune cell

  • naive B-cell: 0.9 nTPM
  • naive CD8 T-cell: 0.7 nTPM
  • gdT-cell: 0.6 nTPM
  • memory CD4 T-cell: 0.6 nTPM
  • naive CD4 T-cell: 0.6 nTPM
  • MAIT T-cell: 0.4 nTPM

Brain region

  • cerebellum: 21 nTPM
  • cerebral cortex: 14 nTPM
  • hypothalamus: 11 nTPM
  • white matter: 11 nTPM
  • basal ganglia: 11 nTPM
  • hippocampal formation: 9.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC3A1.

Disease | AllUniProt

Conditions SLC3A1 is implicated in, by any mechanism.

Disease | GeneticClinVar

134 pathogenic / likely-pathogenic of 614 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)
1.62
gnomAD pLI
0
gnomAD missense Z
-3.14
DepMap mean gene effect
-0.08
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC3A1 as an antibody target. Whether an autoantibody or antibody against SLC3A1 could matter depends on whether native SLC3A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC3A1 is annotated at the cell surface, where native SLC3A1 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 SLC3A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC3A1. 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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