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 EASMKLYLocalizationUniProt · 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
- alcohol dehydrogenase (NAD+) activity
- metal ion binding
- hydroxyacid-oxoacid transhydrogenase activity
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.
Loading the interactive Seroatlas protein explorer...