Seroatlas · Human Serome Atlas

HACD1

Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

Also known as: CAP, HACD1_HUMAN, PTPLA

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

Protein identityUniProt · HPA

UniProt accession
B0YJ81
Gene
HACD1
Ensembl
ENSG00000165996
Chromosome
10
Canonical length
288 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Quaternary structure
Homooligomer

OverviewNCBI Gene

The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

288 residues, UniProt reviewed canonical sequence.

>B0YJ81|HACD1
     1  MGRLTEAAAA GSGSRAAGWA GSPPTLLPLS PTSPRCAATM ASSDEDGTNG GASEAGEDRE
    61  APGERRRLGV LATAWLTFYD IAMTAGWLVL AIAMVRFYME KGTHRGLYKS IQKTLKFFQT
   121  FALLEIVHCL IGIVPTSVIV TGVQVSSRIF MVWLITHSIK PIQNEESVVL FLVAWTVTEI
   181  TRYSFYTFSL LDHLPYFIKW ARYNFFIILY PVGVAGELLT IYAALPHVKK TGMFSIRLPN
   241  KYNVSFDYYY FLLITMASYI PLFPQLYFHM LRQRRKVLHG EVIVEKDD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HACD1 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
6
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
69 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 69 nTPM
  • blood vessel: 43 nTPM
  • skeletal muscle: 35 nTPM
  • colon: 30 nTPM
  • smooth muscle: 24 nTPM
  • endometrium: 19 nTPM

Single-cell type

  • myonuclei: 207 nCPM
  • alveolar cells type 1: 157 nCPM
  • melanocytes: 148 nCPM
  • gonadotrophs: 142 nCPM
  • cardiomyocytes: 116 nCPM
  • parietal cells: 111 nCPM

Immune cell

  • T-reg: 56 nTPM
  • memory CD4 T-cell: 5 nTPM
  • basophil: 4.7 nTPM
  • NK-cell: 3.4 nTPM
  • myeloid DC: 3 nTPM
  • neutrophil: 2.5 nTPM

Brain region

  • cerebellum: 32 nTPM
  • white matter: 27 nTPM
  • hypothalamus: 24 nTPM
  • midbrain: 22 nTPM
  • medulla oblongata: 22 nTPM
  • pons: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HACD1.

Disease | AllUniProt

Conditions HACD1 is implicated in, by any mechanism.

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 189 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Congenital myopathy 11

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)
1.7
gnomAD pLI
0
DepMap mean gene effect
0.05
DepMap dependency class
none

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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HACD1 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 HACD1 as an antibody target. Whether an autoantibody or antibody against HACD1 could matter depends on whether native HACD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HACD1 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 HACD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HACD1. 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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