Seroatlas · Human Serome Atlas

GFPT1

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

Also known as: GFA, GFAT, GFAT1, GFPT, GFPT1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q06210
Gene
GFPT1
Ensembl
ENSG00000198380
Chromosome
2
Canonical length
699 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Nucleoli,Nucleoli fibrillar center
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

Canonical amino-acid sequenceUniProt

699 residues, UniProt reviewed canonical sequence.

>Q06210|GFPT1
     1  MCGIFAYLNY HVPRTRREIL ETLIKGLQRL EYRGYDSAGV GFDGGNDKDW EANACKIQLI
    61  KKKGKVKALD EEVHKQQDMD LDIEFDVHLG IAHTRWATHG EPSPVNSHPQ RSDKNNEFIV
   121  IHNGIITNYK DLKKFLESKG YDFESETDTE TIAKLVKYMY DNRESQDTSF TTLVERVIQQ
   181  LEGAFALVFK SVHFPGQAVG TRRGSPLLIG VRSEHKLSTD HIPILYRTAR TQIGSKFTRW
   241  GSQGERGKDK KGSCNLSRVD STTCLFPVEE KAVEYYFASD ASAVIEHTNR VIFLEDDDVA
   301  AVVDGRLSIH RIKRTAGDHP GRAVQTLQME LQQIMKGNFS SFMQKEIFEQ PESVVNTMRG
   361  RVNFDDYTVN LGGLKDHIKE IQRCRRLILI ACGTSYHAGV ATRQVLEELT ELPVMVELAS
   421  DFLDRNTPVF RDDVCFFLSQ SGETADTLMG LRYCKERGAL TVGITNTVGS SISRETDCGV
   481  HINAGPEIGV ASTKAYTSQF VSLVMFALMM CDDRISMQER RKEIMLGLKR LPDLIKEVLS
   541  MDDEIQKLAT ELYHQKSVLI MGRGYHYATC LEGALKIKEI TYMHSEGILA GELKHGPLAL
   601  VDKLMPVIMI IMRDHTYAKC QNALQQVVAR QGRPVVICDK EDTETIKNTK RTIKVPHSVD
   661  CLQGILSVIP LQLLAFHLAV LRGYDVDFPR NLAKSVTVE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GFPT1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.22
Highest tissue expression
86 nTPM

Expression across tissuesHPA

Tissue

  • thyroid gland: 86 nTPM
  • rectum: 72 nTPM
  • colon: 70 nTPM
  • stomach: 61 nTPM
  • testis: 44 nTPM
  • salivary gland: 40 nTPM

Single-cell type

  • goblet cells: 461 nCPM
  • mucous neck cells: 343 nCPM
  • foveolar cells: 319 nCPM
  • somatotrophs: 279 nCPM
  • colonocytes: 265 nCPM
  • gastric chief cells: 262 nCPM

Immune cell

  • basophil: 9.3 nTPM
  • memory CD8 T-cell: 8.3 nTPM
  • gdT-cell: 7.5 nTPM
  • MAIT T-cell: 7 nTPM
  • memory B-cell: 6.5 nTPM
  • memory CD4 T-cell: 6.5 nTPM

Brain region

  • choroid plexus: 79 nTPM
  • hypothalamus: 36 nTPM
  • pons: 36 nTPM
  • midbrain: 35 nTPM
  • thalamus: 29 nTPM
  • cerebral cortex: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GFPT1.

Disease | AllUniProt

Conditions GFPT1 is implicated in, by any mechanism.

  • Myasthenic syndrome, congenital, 12 (CMS12) MIM:610542

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 651 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)
0.34
gnomAD pLI
0.9
gnomAD missense Z
4.35
DepMap mean gene effect
-0.55
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 GFPT1 as an antibody target. Whether an autoantibody or antibody against GFPT1 could matter depends on whether native GFPT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GFPT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GFPT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GFPT1. 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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