Seroatlas · Human Serome Atlas

HYAL1

Hyaluronidase-1

Also known as: HYAL-1, HYAL1_HUMAN, LUCA1

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

Protein identityUniProt · HPA

UniProt accession
Q12794
Gene
HYAL1
Ensembl
ENSG00000114378
Chromosome
3
Canonical length
435 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted to blood

OverviewNCBI Gene

This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>Q12794|HYAL1
     1  MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD VDVSVFDVVA
    61  NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA SLIAHLARTF QDILAAIPAP
   121  DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR SRALVQAQHP DWPAPQVEAV AQDQFQGAAR
   181  AWMAGTLQLG RALRPRGLWG FYGFPDCYNY DFLSPNYTGQ CPSGIRAQND QLGWLWGQSR
   241  ALYPSIYMPA VLEGTGKSQM YVQHRVAEAF RVAVAAGDPN LPVLPYVQIF YDTTNHFLPL
   301  DELEHSLGES AAQGAAGVVL WVSWENTRTK ESCQAIKEYM DTTLGPFILN VTSGALLCSQ
   361  ALCSGHGRCV RRTSHPKALL LLNPASFSIQ LTPGGGPLSL RGALSLEDQA QMAVEFKCRC
   421  YPGWQAPWCE RKSMW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HYAL1 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
198 nTPM

Expression across tissuesHPA

Tissue

  • liver: 198 nTPM
  • spleen: 93 nTPM
  • heart muscle: 67 nTPM
  • choroid plexus: 51 nTPM
  • kidney: 49 nTPM
  • lung: 30 nTPM

Single-cell type

  • hepatocytes: 151 nCPM
  • lymphatic endothelial cells: 47 nCPM
  • vascular endothelial cells: 33 nCPM
  • alveolar cells type 2: 31 nCPM
  • alveolar cells type 1: 31 nCPM
  • cholangiocytes: 21 nCPM

Immune cell

  • neutrophil: 3.3 nTPM
  • eosinophil: 1.5 nTPM
  • basophil: 1.4 nTPM
  • MAIT T-cell: 0.8 nTPM
  • naive CD4 T-cell: 0.6 nTPM
  • naive B-cell: 0.5 nTPM

Brain region

  • choroid plexus: 39 nTPM
  • cerebellum: 14 nTPM
  • thalamus: 12 nTPM
  • pons: 12 nTPM
  • medulla oblongata: 11 nTPM
  • cerebral cortex: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HYAL1.

Disease | AllUniProt

Conditions HYAL1 is implicated in, by any mechanism.

Disease | GeneticClinVar

53 pathogenic / likely-pathogenic of 447 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Deficiency of hyaluronoglucosaminidase

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)
1.02
gnomAD pLI
0
gnomAD missense Z
0.32
DepMap mean gene effect
-0.02
DepMap dependency class
none

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 HYAL1 as an antibody target. Whether an autoantibody or antibody against HYAL1 could matter depends on whether native HYAL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HYAL1 is annotated as secreted, so native HYAL1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label HYAL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HYAL1. 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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