Seroatlas · Human Serome Atlas

HACL1

2-hydroxyacyl-CoA lyase 1

Also known as: 2-HPCL, HACL1_HUMAN, HPCL, PHYH2

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

Protein identityUniProt · HPA

UniProt accession: Q9UJ83
Gene: HACL1
Ensembl: ENSG00000131373
Chromosome: 3
Canonical length: 578 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles
Quaternary structure: Homotetramer

OverviewNCBI Gene

Enables several functions, including 2-hydroxyacyl-CoA lyase activity; ATP binding activity; and cation binding activity. Involved in fatty acid alpha-oxidation; phytanic acid metabolic process; and protein targeting to peroxisome. Located in nucleoplasm and peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

578 residues, UniProt reviewed canonical sequence.

>Q9UJ83|HACL1
     1  MPDSNFAERS EEQVSGAKVI AQALKTQDVE YIFGIVGIPV TEIAIAAQQL GIKYIGMRNE
    61  QAACYAASAI GYLTSRPGVC LVVSGPGLIH ALGGMANANM NCWPLLVIGG SSERNQETMG
   121  AFQEFPQVEA CRLYTKFSAR PSSIEAIPFV IEKAVRSSIY GRPGACYVDI PADFVNLQVN
   181  VNSIKYMERC MSPPISMAET SAVCTAASVI RNAKQPLLII GKGAAYAHAE ESIKKLVEQY
   241  KLPFLPTPMG KGVVPDNHPY CVGAARSRAL QFADVIVLFG ARLNWILHFG LPPRYQPDVK
   301  FIQVDICAEE LGNNVKPAVT LLGNIHAVTK QLLEELDKTP WQYPPESKWW KTLREKMKSN
   361  EAASKELASK KSLPMNYYTV FYHVQEQLPR DCFVVSEGAN TMDIGRTVLQ NYLPRHRLDA
   421  GTFGTMGVGL GFAIAAAVVA KDRSPGQWII CVEGDSAFGF SGMEVETICR YNLPIILLVV
   481  NNNGIYQGFD TDTWKEMLKF QDATAVVPPM CLLPNSHYEQ VMTAFGGKGY FVQTPEELQK
   541  SLRQSLADTT KPSLINIMIE PQATRKAQDF HWLTRSNM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HACL1 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): 0.21
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

duodenum: 53 nTPM
liver: 48 nTPM
small intestine: 26 nTPM
testis: 25 nTPM
kidney: 24 nTPM
thyroid gland: 19 nTPM

Single-cell type

adipocytes: 100 nCPM
early spermatids: 97 nCPM
late spermatids: 89 nCPM
late primary spermatocytes: 88 nCPM
oocytes: 78 nCPM
ependymal cells: 78 nCPM

Immune cell

basophil: 116 nTPM
non-classical monocyte: 24 nTPM
NK-cell: 24 nTPM
naive B-cell: 21 nTPM
MAIT T-cell: 21 nTPM
intermediate monocyte: 19 nTPM

Brain region

cerebellum: 17 nTPM
white matter: 16 nTPM
cerebral cortex: 13 nTPM
choroid plexus: 12 nTPM
basal ganglia: 11 nTPM
medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HACL1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 148 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Familial hypercholesterolemia

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): 1.01
gnomAD pLI: 0
gnomAD missense Z: -0.04
DepMap mean gene effect: 0.01
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

ATP binding
identical protein binding
magnesium ion binding
thiamine pyrophosphate binding
2-hydroxyacyl-CoA lyase activity
2-hydroxyphytanoyl-CoA lyase activity
carbon-carbon lyase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HACL1 as an antibody target. Whether an autoantibody or antibody against HACL1 could matter depends on whether native HACL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HACL1 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 HACL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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