Seroatlas · Human Serome Atlas

HSD17B12

Very-long-chain 3-oxoacyl-CoA reductase

Also known as: DHB12_HUMAN, KAR, SDR12C1

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

Protein identityUniProt · HPA

UniProt accession: Q53GQ0
Gene: HSD17B12
Ensembl: ENSG00000149084
Chromosome: 11
Canonical length: 312 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

312 residues, UniProt reviewed canonical sequence.

>Q53GQ0|HSD17B12
     1  MESALPAAGF LYWVGAGTVA YLALRISYSL FTALRVWGVG NEAGVGPGLG EWAVVTGSTD
    61  GIGKSYAEEL AKHGMKVVLI SRSKDKLDQV SSEIKEKFKV ETRTIAVDFA SEDIYDKIKT
   121  GLAGLEIGIL VNNVGMSYEY PEYFLDVPDL DNVIKKMINI NILSVCKMTQ LVLPGMVERS
   181  KGAILNISSG SGMLPVPLLT IYSATKTFVD FFSQCLHEEY RSKGVFVQSV LPYFVATKLA
   241  KIRKPTLDKP SPETFVKSAI KTVGLQSRTN GYLIHALMGS IISNLPSWIY LKIVMNMNKS
   301  TRAHYLKKTK KN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSD17B12 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: Other membrane
Secreted: No
Transmembrane segments: 3
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 126 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 126 nTPM
liver: 115 nTPM
choroid plexus: 90 nTPM
kidney: 85 nTPM
heart muscle: 65 nTPM
blood vessel: 65 nTPM

Single-cell type

pancreatic islet cells: 429 nCPM
choroid plexus epithelial cells: 291 nCPM
distal convoluted tubule cells: 266 nCPM
renal connecting tubule cells: 233 nCPM
ependymal cells: 216 nCPM
other brain neurons: 215 nCPM

Immune cell

myeloid DC: 21 nTPM
plasmacytoid DC: 18 nTPM
NK-cell: 16 nTPM
naive CD4 T-cell: 16 nTPM
naive B-cell: 15 nTPM
intermediate monocyte: 15 nTPM

Brain region

choroid plexus: 136 nTPM
cerebral cortex: 116 nTPM
white matter: 111 nTPM
pons: 109 nTPM
medulla oblongata: 108 nTPM
cerebellum: 107 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): 0.9
gnomAD pLI: 0
gnomAD missense Z: 0.65
DepMap mean gene effect: -0.39
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

collagen binding
estradiol 17-beta-dehydrogenase [NAD(P)+] activity
fibronectin binding
heparin binding
oxidoreductase activity
very-long-chain 3-oxoacyl-CoA reductase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HSD17B12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HSD17B12 as an antibody target. Whether an autoantibody or antibody against HSD17B12 could matter depends on whether native HSD17B12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HSD17B12 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 HSD17B12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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