Seroatlas · Human Serome Atlas

HSD17B4

Peroxisomal multifunctional enzyme type 2

Also known as: DBP, DHB4_HUMAN, MFE-2, SDR8C1

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

Protein identityUniProt · HPA

UniProt accession
P51659
Gene
HSD17B4
Ensembl
ENSG00000133835
Chromosome
5
Canonical length
736 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Peroxisomes
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

736 residues, UniProt reviewed canonical sequence.

>P51659|HSD17B4
     1  MGSPLRFDGR VVLVTGAGAG LGRAYALAFA ERGALVVVND LGGDFKGVGK GSLAADKVVE
    61  EIRRRGGKAV ANYDSVEEGE KVVKTALDAF GRIDVVVNNA GILRDRSFAR ISDEDWDIIH
   121  RVHLRGSFQV TRAAWEHMKK QKYGRIIMTS SASGIYGNFG QANYSAAKLG LLGLANSLAI
   181  EGRKSNIHCN TIAPNAGSRM TQTVMPEDLV EALKPEYVAP LVLWLCHESC EENGGLFEVG
   241  AGWIGKLRWE RTLGAIVRQK NHPMTPEAVK ANWKKICDFE NASKPQSIQE STGSIIEVLS
   301  KIDSEGGVSA NHTSRATSTA TSGFAGAIGQ KLPPFSYAYT ELEAIMYALG VGASIKDPKD
   361  LKFIYEGSSD FSCLPTFGVI IGQKSMMGGG LAEIPGLSIN FAKVLHGEQY LELYKPLPRA
   421  GKLKCEAVVA DVLDKGSGVV IIMDVYSYSE KELICHNQFS LFLVGSGGFG GKRTSDKVKV
   481  AVAIPNRPPD AVLTDTTSLN QAALYRLSGD WNPLHIDPNF ASLAGFDKPI LHGLCTFGFS
   541  ARRVLQQFAD NDVSRFKAIK ARFAKPVYPG QTLQTEMWKE GNRIHFQTKV QETGDIVISN
   601  AYVDLAPTSG TSAKTPSEGG KLQSTFVFEE IGRRLKDIGP EVVKKVNAVF EWHITKGGNI
   661  GAKWTIDLKS GSGKVYQGPA KGAADTTIIL SDEDFMEVVL GKLDPQKAFF SGRLKARGNI
   721  MLSQKLQMIL KDYAKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSD17B4 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)
0.28
Highest tissue expression
309 nTPM

Expression across tissuesHPA

Tissue

  • liver: 309 nTPM
  • thyroid gland: 127 nTPM
  • small intestine: 80 nTPM
  • adrenal gland: 80 nTPM
  • kidney: 80 nTPM
  • seminal vesicle: 76 nTPM

Single-cell type

  • hepatocytes: 349 nCPM
  • alveolar cells type 2: 336 nCPM
  • oligodendrocytes: 259 nCPM
  • transitional alveolar cells: 189 nCPM
  • adrenal cortex cells: 181 nCPM
  • prostatic glandular cells: 166 nCPM

Immune cell

  • basophil: 69 nTPM
  • eosinophil: 46 nTPM
  • classical monocyte: 26 nTPM
  • myeloid DC: 20 nTPM
  • non-classical monocyte: 16 nTPM
  • intermediate monocyte: 14 nTPM

Brain region

  • white matter: 78 nTPM
  • hypothalamus: 77 nTPM
  • thalamus: 75 nTPM
  • cerebellum: 74 nTPM
  • medulla oblongata: 72 nTPM
  • midbrain: 67 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSD17B4.

Disease | AllUniProt

Conditions HSD17B4 is implicated in, by any mechanism.

Disease | GeneticClinVar

268 pathogenic / likely-pathogenic of 1,522 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)
0.75
gnomAD pLI
0
gnomAD missense Z
-0.28
DepMap mean gene effect
-0.21
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 HSD17B4 as an antibody target. Whether an autoantibody or antibody against HSD17B4 could matter depends on whether native HSD17B4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HSD17B4 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 HSD17B4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HSD17B4. 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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