Seroatlas · Human Serome Atlas

SLC2A1

Solute carrier family 2, facilitated glucose transporter member 1

Also known as: CSE, DYT18, DYT9, GLUT, GLUT-1, GLUT1, GTR1_HUMAN, HTLVR

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

Protein identityUniProt · HPA

UniProt accession
P11166
Gene
SLC2A1
Ensembl
ENSG00000117394
Chromosome
1
Canonical length
492 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

Canonical amino-acid sequenceUniProt

492 residues, UniProt reviewed canonical sequence.

>P11166|SLC2A1
     1  MEPSSKKLTG RLMLAVGGAV LGSLQFGYNT GVINAPQKVI EEFYNQTWVH RYGESILPTT
    61  LTTLWSLSVA IFSVGGMIGS FSVGLFVNRF GRRNSMLMMN LLAFVSAVLM GFSKLGKSFE
   121  MLILGRFIIG VYCGLTTGFV PMYVGEVSPT ALRGALGTLH QLGIVVGILI AQVFGLDSIM
   181  GNKDLWPLLL SIIFIPALLQ CIVLPFCPES PRFLLINRNE ENRAKSVLKK LRGTADVTHD
   241  LQEMKEESRQ MMREKKVTIL ELFRSPAYRQ PILIAVVLQL SQQLSGINAV FYYSTSIFEK
   301  AGVQQPVYAT IGSGIVNTAF TVVSLFVVER AGRRTLHLIG LAGMAGCAIL MTIALALLEQ
   361  LPWMSYLSIV AIFGFVAFFE VGPGPIPWFI VAELFSQGPR PAAIAVAGFS NWTSNFIVGM
   421  CFQYVEQLCG PYVFIIFTVL LVLFFIFTYF KVPETKGRTF DEIASGFRQG GASQSDKTPE
   481  ELFHPLGADS QV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC2A1 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
93 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 93 nTPM
  • skin: 61 nTPM
  • esophagus: 51 nTPM
  • vagina: 46 nTPM
  • choroid plexus: 44 nTPM
  • bone marrow: 39 nTPM

Single-cell type

  • syncytiotrophoblasts: 2,979 nCPM
  • cytotrophoblasts: 987 nCPM
  • ocular epithelial cells: 855 nCPM
  • migrating cytotrophoblasts: 755 nCPM
  • extravillous trophoblasts: 731 nCPM
  • esophageal apical cells: 673 nCPM

Immune cell

  • plasmacytoid DC: 18 nTPM
  • memory B-cell: 11 nTPM
  • gdT-cell: 11 nTPM
  • MAIT T-cell: 8.5 nTPM
  • naive B-cell: 8.3 nTPM
  • memory CD8 T-cell: 6.7 nTPM

Brain region

  • choroid plexus: 91 nTPM
  • thalamus: 89 nTPM
  • pons: 73 nTPM
  • cerebellum: 70 nTPM
  • medulla oblongata: 67 nTPM
  • midbrain: 61 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC2A1.

Disease | AllUniProt

Conditions SLC2A1 is implicated in, by any mechanism.

  • GLUT1 deficiency syndrome 1 (GLUT1DS1) MIM:606777
  • GLUT1 deficiency syndrome 2 (GLUT1DS2) MIM:612126
  • Epilepsy, idiopathic generalized 12 (EIG12) MIM:614847
  • Dystonia 9 (DYT9) MIM:601042
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) MIM:608885

Disease | GeneticClinVar

343 pathogenic / likely-pathogenic of 1,237 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • GLUT1 deficiency syndrome 1, autosomal recessive
  • Encephalopathy due to GLUT1 deficiency
  • Childhood onset GLUT1 deficiency syndrome 2
  • Dystonia 9
  • Inborn genetic diseases

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)
0.24
gnomAD pLI
0.99
gnomAD missense Z
2.93
DepMap mean gene effect
-0.4
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 SLC2A1 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 SLC2A1 as an antibody target. Whether an autoantibody or antibody against SLC2A1 could matter depends on whether native SLC2A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC2A1 is annotated at the cell surface, where native SLC2A1 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 SLC2A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC2A1. 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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