Seroatlas · Human Serome Atlas

SLC1A4

Neutral amino acid transporter A

Also known as: ASCT-1, ASCT1, SATT, SATT_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P43007
Gene
SLC1A4
Ensembl
ENSG00000115902
Chromosome
2
Canonical length
532 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Centrosome
Quaternary structure
Homotrimer

OverviewNCBI Gene

The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]

Canonical amino-acid sequenceUniProt

532 residues, UniProt reviewed canonical sequence.

>P43007|SLC1A4
     1  MEKSNETNGY LDSAQAGPAA GPGAPGTAAG RARRCAGFLR RQALVLLTVS GVLAGAGLGA
    61  ALRGLSLSRT QVTYLAFPGE MLLRMLRMII LPLVVCSLVS GAASLDASCL GRLGGIAVAY
   121  FGLTTLSASA LAVALAFIIK PGSGAQTLQS SDLGLEDSGP PPVPKETVDS FLDLARNLFP
   181  SNLVVAAFRT YATDYKVVTQ NSSSGNVTHE KIPIGTEIEG MNILGLVLFA LVLGVALKKL
   241  GSEGEDLIRF FNSLNEATMV LVSWIMWYVP VGIMFLVGSK IVEMKDIIVL VTSLGKYIFA
   301  SILGHVIHGG IVLPLIYFVF TRKNPFRFLL GLLAPFATAF ATCSSSATLP SMMKCIEENN
   361  GVDKRISRFI LPIGATVNMD GAAIFQCVAA VFIAQLNNVE LNAGQIFTIL VTATASSVGA
   421  AGVPAGGVLT IAIILEAIGL PTHDLPLILA VDWIVDRTTT VVNVEGDALG AGILHHLNQK
   481  ATKKGEQELA EVKVEAIPNC KSEEETSPLV THQNPAGPVA SAPELESKES VL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC1A4 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
8
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
49 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 49 nTPM
  • amygdala: 45 nTPM
  • cerebral cortex: 43 nTPM
  • skeletal muscle: 38 nTPM
  • hypothalamus: 30 nTPM
  • pancreas: 28 nTPM

Single-cell type

  • melanocytes: 245 nCPM
  • astrocytes: 146 nCPM
  • pdcs: 120 nCPM
  • thymocytes: 111 nCPM
  • plasma cells: 110 nCPM
  • gonadotrophs: 102 nCPM

Immune cell

  • non-classical monocyte: 9.5 nTPM
  • plasmacytoid DC: 7.2 nTPM
  • NK-cell: 5.1 nTPM
  • intermediate monocyte: 4.8 nTPM
  • myeloid DC: 3.9 nTPM
  • T-reg: 3.5 nTPM

Brain region

  • hypothalamus: 99 nTPM
  • pons: 85 nTPM
  • amygdala: 76 nTPM
  • basal ganglia: 70 nTPM
  • midbrain: 65 nTPM
  • cerebral cortex: 65 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC1A4.

Disease | AllUniProt

Conditions SLC1A4 is implicated in, by any mechanism.

  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) MIM:616657

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 451 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
  • Inborn genetic diseases
  • SLC1A4-related spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
  • SLC1A4-related disorder

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)
0.64
gnomAD pLI
0.07
gnomAD missense Z
1.73
DepMap mean gene effect
0
DepMap dependency class
selective

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

InteractionsUniProt · HPA

Protein binding partners of SLC1A4 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 SLC1A4 as an antibody target. Whether an autoantibody or antibody against SLC1A4 could matter depends on whether native SLC1A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC1A4 is annotated at the cell surface, where native SLC1A4 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 SLC1A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC1A4. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...