Seroatlas · Human Serome Atlas

KHK

Ketohexokinase

Also known as: KHK_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P50053
Gene
KHK
Ensembl
ENSG00000138030
Chromosome
2
Canonical length
298 aa
Protein class
Disease related genes, Enzymes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

298 residues, UniProt reviewed canonical sequence.

>P50053|KHK
     1  MEEKQILCVG LVVLDVISLV DKYPKEDSEI RCLSQRWQRG GNASNSCTVL SLLGAPCAFM
    61  GSMAPGHVAD FLVADFRRRG VDVSQVAWQS KGDTPSSCCI INNSNGNRTI VLHDTSLPDV
   121  SATDFEKVDL TQFKWIHIEG RNASEQVKML QRIDAHNTRQ PPEQKIRVSV EVEKPREELF
   181  QLFGYGDVVF VSKDVAKHLG FQSAEEALRG LYGRVRKGAV LVCAWAEEGA DALGPDGKLL
   241  HSDAFPPPRV VDTLGAGDTF NASVIFSLSQ GRSVQEALRF GCQVAGKKCG LQGFDGIV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KHK 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)
0.24
Highest tissue expression
173 nTPM

Expression across tissuesHPA

Tissue

  • liver: 173 nTPM
  • small intestine: 119 nTPM
  • duodenum: 110 nTPM
  • kidney: 101 nTPM
  • cerebellum: 11 nTPM
  • pancreas: 9.8 nTPM

Single-cell type

  • enterocytes: 1,661 nCPM
  • hepatocytes: 476 nCPM
  • oocytes: 152 nCPM
  • enteric transient amplifying cells: 127 nCPM
  • proximal tubule cells: 100 nCPM
  • paneth cells: 74 nCPM

Immune cell

  • plasmacytoid DC: 8.1 nTPM
  • memory CD4 T-cell: 8 nTPM
  • memory CD8 T-cell: 7.2 nTPM
  • naive CD8 T-cell: 7 nTPM
  • classical monocyte: 6.8 nTPM
  • MAIT T-cell: 6.6 nTPM

Brain region

  • cerebellum: 15 nTPM
  • medulla oblongata: 11 nTPM
  • pons: 11 nTPM
  • cerebral cortex: 11 nTPM
  • hippocampal formation: 9.9 nTPM
  • white matter: 9.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KHK.

Disease | AllUniProt

Conditions KHK is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Essential fructosuria

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)
1.45
gnomAD pLI
0
gnomAD missense Z
-0.45
DepMap mean gene effect
-0.05
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 KHK as an antibody target. Whether an autoantibody or antibody against KHK could matter depends on whether native KHK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KHK 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 KHK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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