Seroatlas · Human Serome Atlas

ADHFE1

Hydroxyacid-oxoacid transhydrogenase, mitochondrial

Also known as: FLJ32430, HOT_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8IWW8
Gene
ADHFE1
Ensembl
ENSG00000147576
Chromosome
8
Canonical length
467 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Vesicles

OverviewNCBI Gene

The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

467 residues, UniProt reviewed canonical sequence.

>Q8IWW8|ADHFE1
     1  MAAAARARVA YLLRQLQRAA CQCPTHSHTY SQAPGLSPSG KTTDYAFEMA VSNIRYGAAV
    61  TKEVGMDLKN MGAKNVCLMT DKNLSKLPPV QVAMDSLVKN GIPFTVYDNV RVEPTDSSFM
   121  EAIEFAQKGA FDAYVAVGGG STMDTCKAAN LYASSPHSDF LDYVSAPIGK GKPVSVPLKP
   181  LIAVPTTSGT GSETTGVAIF DYEHLKVKIG ITSRAIKPTL GLIDPLHTLH MPARVVANSG
   241  FDVLCHALES YTTLPYHLRS PCPSNPITRP AYQGSNPISD IWAIHALRIV AKYLKRAVRN
   301  PDDLEARSHM HLASAFAGIG FGNAGVHLCH GMSYPISGLV KMYKAKDYNV DHPLVPHGLS
   361  VVLTSPAVFT FTAQMFPERH LEMAEILGAD TRTARIQDAG LVLADTLRKF LFDLDVDDGL
   421  AAVGYSKADI PALVKGTLPQ ERVTKLAPCP QSEEDLAALF EASMKLY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADHFE1 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
30 nTPM

Expression across tissuesHPA

Tissue

  • liver: 30 nTPM
  • tongue: 29 nTPM
  • skeletal muscle: 29 nTPM
  • heart muscle: 24 nTPM
  • cerebral cortex: 12 nTPM
  • amygdala: 12 nTPM

Single-cell type

  • bergmann glia: 92 nCPM
  • astrocytes: 80 nCPM
  • choroid plexus epithelial cells: 67 nCPM
  • proximal tubule cells: 64 nCPM
  • loop of henle epithelial cells: 51 nCPM
  • distal convoluted tubule cells: 51 nCPM

Immune cell

  • NK-cell: 0.7 nTPM
  • basophil: 0.6 nTPM
  • MAIT T-cell: 0.5 nTPM
  • naive B-cell: 0.4 nTPM
  • memory CD8 T-cell: 0.3 nTPM
  • naive CD8 T-cell: 0.3 nTPM

Brain region

  • choroid plexus: 12 nTPM
  • amygdala: 8.6 nTPM
  • thalamus: 8.6 nTPM
  • cerebral cortex: 8.4 nTPM
  • midbrain: 8.3 nTPM
  • white matter: 8.1 nTPM

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)
1.05
gnomAD pLI
0
gnomAD missense Z
-0.06
DepMap mean gene effect
-0.15
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

  • Alcohol dehydrogenase, iron-type/glycerol dehydrogenase GldA
  • Iron-type alcohol dehydrogenase-like
  • Hydroxyacid-oxoacid transhydrogenase
  • Fe-containing alcohol dehydrogenase-like, C-terminal
  • Iron-containing alcohol dehydrogenase
  • Fe-containing alcohol dehydrogenase family, C-terminal

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ADHFE1 as an antibody target. Whether an autoantibody or antibody against ADHFE1 could matter depends on whether native ADHFE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ADHFE1 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 ADHFE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ADHFE1. 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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