Seroatlas · Human Serome Atlas

ABHD5

1-acylglycerol-3-phosphate O-acyltransferase ABHD5

Also known as: ABHD5_HUMAN, CGI-58, NCIE2

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

Protein identityUniProt · HPA

UniProt accession
Q8WTS1
Gene
ABHD5
Ensembl
ENSG00000011198
Chromosome
3
Canonical length
349 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

349 residues, UniProt reviewed canonical sequence.

>Q8WTS1|ABHD5
     1  MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY KKEPVRISNG
    61  NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT NRPVYAFDLL GFGRSSRPRF
   121  DSDAEEVENQ FVESIEEWRC ALGLDKMILL GHNLGGFLAA AYSLKYPSRV NHLILVEPWG
   181  FPERPDLADQ DRPIPVWIRA LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF
   241  EDDTVTEYIY HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI
   301  DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABHD5 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)
0.27
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 38 nTPM
  • skin: 30 nTPM
  • adipose tissue: 28 nTPM
  • liver: 20 nTPM
  • spinal cord: 20 nTPM
  • salivary gland: 19 nTPM

Single-cell type

  • neutrophils: 2,098 nCPM
  • neutrophil progenitors: 1,163 nCPM
  • esophageal apical cells: 763 nCPM
  • syncytiotrophoblasts: 685 nCPM
  • lacrimal acinar cells: 306 nCPM
  • breast lactating cells: 288 nCPM

Immune cell

  • basophil: 68 nTPM
  • neutrophil: 43 nTPM
  • classical monocyte: 15 nTPM
  • eosinophil: 9.5 nTPM
  • intermediate monocyte: 7.9 nTPM
  • myeloid DC: 6.9 nTPM

Brain region

  • white matter: 20 nTPM
  • cerebellum: 17 nTPM
  • medulla oblongata: 15 nTPM
  • spinal cord: 15 nTPM
  • pons: 14 nTPM
  • basal ganglia: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABHD5.

Disease | AllUniProt

Conditions ABHD5 is implicated in, by any mechanism.

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 359 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Triglyceride storage disease with ichthyosis
  • ABHD5-related disorder

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)
0.98
gnomAD pLI
0
gnomAD missense Z
0.47
DepMap mean gene effect
-0.03
DepMap dependency class
none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ABHD5 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 ABHD5 as an antibody target. Whether an autoantibody or antibody against ABHD5 could matter depends on whether native ABHD5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABHD5 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 ABHD5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ABHD5. 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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