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Aliases for HYAL1 Gene

Aliases for HYAL1 Gene

  • Hyaluronoglucosaminidase 1 2 3 5
  • Lung Carcinoma Protein 1 3 4
  • LuCa-1 3 4
  • LUCA1 3 4
  • Hyaluronoglucosaminidase-1 4
  • Tumor Suppressor LUCA-1 3
  • Plasma Hyaluronidase 3
  • Hyaluronidase-1 3
  • EC 4
  • HYAL-1 3
  • Hyal-1 4
  • MPS9 3
  • NAT6 3

External Ids for HYAL1 Gene

Previous GeneCards Identifiers for HYAL1 Gene

  • GC03P049646
  • GC03P049807
  • GC03M050191
  • GC03M050296
  • GC03M050312
  • GC03M050339

Summaries for HYAL1 Gene

Entrez Gene Summary for HYAL1 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]

GeneCards Summary for HYAL1 Gene

HYAL1 (Hyaluronoglucosaminidase 1) is a Protein Coding gene. Diseases associated with HYAL1 include Mucopolysaccharidosis, Type Ix and Natowicz Syndrome. Among its related pathways are Glycosaminoglycan degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include transcription factor binding and hyalurononglucosaminidase activity. An important paralog of this gene is HYAL3.

UniProtKB/Swiss-Prot for HYAL1 Gene

  • May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.

Gene Wiki entry for HYAL1 Gene

Additional gene information for HYAL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HYAL1 Gene

Genomics for HYAL1 Gene

GeneHancer (GH) Regulatory Elements for HYAL1 Gene

Promoters and enhancers for HYAL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J050297 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 658.7 +11.5 11504 6.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 HYAL3 HYAL1 NAA80 SEMA3F-AS1 RBM5 TMEM115 CYB561D2 AMT DAG1 RNF123
GH03J050234 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17 +67.2 67163 21.2 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF207 GNAI2 RBM5 RBM6 SEMA3F-AS1 HYAL3 TMEM115 HYAL1 CYB561D2 RHOA-IT1 AMT
GH03J050257 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.5 +44.9 44918 19.3 CLOCK DMAP1 IRF4 E2F8 ZNF143 SP3 SSRP1 ZNF610 GLIS1 RCOR2 SEMA3B SEMA3B-AS1 HYAL3 CYB561D2 RBM6 RBM5 IFRD2 GNAI2 SEMA3F-AS1 AMT
GH03J050332 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.6 -25.3 -25253 9.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B RASSF1 RASSF1-AS1 HYAL3 RBM5 RBM6 SEMA3F-AS1 CYB561D2 TMEM115 NICN1 RHOA-IT1
GH03J050319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 8.3 -10.1 -10134 5.2 HDGF CLOCK ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 HYAL2 RBM6 RBM5 AMT SEMA3F-AS1 TMEM115 HYAL3 RHOA-IT1 RASSF1 HEMK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HYAL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HYAL1 gene promoter:
  • ATF-2
  • c-Jun

Genomic Locations for HYAL1 Gene

Genomic Locations for HYAL1 Gene
12,531 bases
Minus strand
12,493 bases
Minus strand

Genomic View for HYAL1 Gene

Genes around HYAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HYAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HYAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYAL1 Gene

Proteins for HYAL1 Gene

  • Protein details for HYAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q6FH23
    • Q6PIZ6
    • Q7KYU2
    • Q7LE34
    • Q8NFK5
    • Q8NFK6
    • Q8NFK7
    • Q8NFK8
    • Q8NFK9
    • Q93013
    • Q9UKD5
    • Q9UNI8

    Protein attributes for HYAL1 Gene

    435 amino acids
    Molecular mass:
    48368 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH25774.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HYAL1 Gene

    Alternative splice isoforms for HYAL1 Gene

neXtProt entry for HYAL1 Gene

Post-translational modifications for HYAL1 Gene

  • Glycosylation at Asn350, isoforms=2, 3, 7216, and Asn99
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HYAL1 Gene

Domains & Families for HYAL1 Gene

Gene Families for HYAL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for HYAL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 56 family.
  • Belongs to the glycosyl hydrolase 56 family.
genes like me logo Genes that share domains with HYAL1: view

Function for HYAL1 Gene

Molecular function for HYAL1 Gene

UniProtKB/Swiss-Prot Function:
May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.
UniProtKB/Swiss-Prot CatalyticActivity:
Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is about 3.8.;
GENATLAS Biochemistry:
hyaluroglucosaminidase 1,plasma,expressed in embryonic kidney and somatic tissues,paralog to SPAM1,involved in glycosaminoglycan catabolism,also involved in cell migration during embryonic development,clustered with HYAL2 and HYAL3

Enzyme Numbers (IUBMB) for HYAL1 Gene

Phenotypes From GWAS Catalog for HYAL1 Gene

Gene Ontology (GO) - Molecular Function for HYAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 NOT virus receptor activity IDA 11296287
GO:0003824 catalytic activity IEA --
GO:0004415 hyalurononglucosaminidase activity TAS --
GO:0008134 transcription factor binding IDA 18718911
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HYAL1: view
genes like me logo Genes that share phenotypes with HYAL1: view

Human Phenotype Ontology for HYAL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HYAL1 Gene

MGI Knock Outs for HYAL1:

Animal Model Products

CRISPR Products

miRNA for HYAL1 Gene

miRTarBase miRNAs that target HYAL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HYAL1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for HYAL1 Gene

Localization for HYAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYAL1 Gene

Secreted. Lysosome.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HYAL1 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 1
endosome 1

Gene Ontology (GO) - Cellular Components for HYAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 9223416
GO:0005737 cytoplasm IDA 21829529
GO:0005764 lysosome IDA,IEA 16600643
GO:0031410 cytoplasmic vesicle IDA 18390475
genes like me logo Genes that share ontologies with HYAL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HYAL1 Gene

Pathways & Interactions for HYAL1 Gene

genes like me logo Genes that share pathways with HYAL1: view

Gene Ontology (GO) - Biological Process for HYAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IDA 20554532
GO:0005975 carbohydrate metabolic process IEA --
GO:0006954 inflammatory response IDA 18390475
GO:0008152 metabolic process IEA --
GO:0009615 response to virus IDA 11296287
genes like me logo Genes that share ontologies with HYAL1: view

No data available for SIGNOR curated interactions for HYAL1 Gene

Drugs & Compounds for HYAL1 Gene

(4) Drugs for HYAL1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(2) Additional Compounds for HYAL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-(acetylamino)-2-Deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
N-Acetylgalactosamine 4-sulphate
  • 2-(acetylamino)-2-Deoxy-D-galactose 4-(hydrogen sulfate)
  • 2-(acetylamino)-2-Deoxy-D-galactose 4-(hydrogen sulphate)
  • GalNAc4S
  • N-Acetyl-D-galactosamine 4-sulfate
  • N-Acetyl-D-galactosamine 4-sulphate
genes like me logo Genes that share compounds with HYAL1: view

Transcripts for HYAL1 Gene

Unigene Clusters for HYAL1 Gene

Hyaluronoglucosaminidase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HYAL1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HYAL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b
SP1: - -
SP2: - -
SP3: - - -
SP4: -
SP5: - -
SP6: - - - -

Relevant External Links for HYAL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HYAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HYAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HYAL1 Gene

This gene is overexpressed in Liver (x12.9), Spleen (x6.8), Heart - Left Ventricle (x4.8), and Kidney - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for HYAL1 Gene

This gene is overexpressed in Urine (62.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HYAL1 Gene

Protein tissue co-expression partners for HYAL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HYAL1 Gene:


SOURCE GeneReport for Unigene cluster for HYAL1 Gene:


mRNA Expression by UniProt/SwissProt for HYAL1 Gene:

Tissue specificity: Highly expressed in the liver, kidney and heart. Weakly expressed in lung, placenta and skeletal muscle. No expression detected in adult brain. Isoform 1 is expressed only in bladder and prostate cancer cells, G2/G3 bladder tumor tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5 and isoform 6 are expressed in normal bladder and bladder tumor tissues.

Evidence on tissue expression from TISSUES for HYAL1 Gene

  • Heart(4.2)
  • Intestine(4.1)
  • Pancreas(4.1)
  • Bone marrow(4)
  • Kidney(2.4)
  • Skin(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HYAL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
  • urinary
Head and neck:
  • ear
  • face
  • head
  • middle ear
  • mouth
  • nose
  • pharynx
  • skull
  • kidney
  • pelvis
  • skin
genes like me logo Genes that share expression patterns with HYAL1: view

Orthologs for HYAL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HYAL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HYAL1 34 33
  • 99.69 (n)
(Canis familiaris)
Mammalia HYAL1 34 33
  • 86.71 (n)
(Mus musculus)
Mammalia Hyal1 16 34 33
  • 80.68 (n)
(Rattus norvegicus)
Mammalia Hyal1 33
  • 80.22 (n)
(Bos Taurus)
Mammalia HYAL1 34
  • 77 (a)
-- 34
  • 67 (a)
(Monodelphis domestica)
Mammalia HYAL1 34
  • 56 (a)
(Ornithorhynchus anatinus)
Mammalia HYAL1 34
  • 50 (a)
(Gallus gallus)
Aves HYAL1 34 33
  • 61.56 (n)
(Anolis carolinensis)
Reptilia HYAL1 34
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hyal1 33
  • 55.94 (n)
(Danio rerio)
Actinopterygii LOC100535290 33
  • 53.48 (n)
CU694224.2 34
  • 46 (a)
HYAL1 (1 of 2) 34
  • 43 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11072 33
(Caenorhabditis elegans)
Secernentea chhy-1 34 33
  • 41.19 (n)
T22C8.2 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
Species where no ortholog for HYAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HYAL1 Gene

Gene Tree for HYAL1 (if available)
Gene Tree for HYAL1 (if available)
Evolutionary constrained regions (ECRs) for HYAL1: view image

Paralogs for HYAL1 Gene

Paralogs for HYAL1 Gene

(5) SIMAP similar genes for HYAL1 Gene using alignment to 3 proteins:

  • C9JB49_HUMAN
genes like me logo Genes that share paralogs with HYAL1: view

Variants for HYAL1 Gene

Sequence variations from dbSNP and Humsavar for HYAL1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs104893743 pathogenic, Deficiency of hyaluronoglucosaminidase, Mucopolysaccharidosis 9 (MPS9) [MIM:601492] 50,302,155(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116097974 likely-benign, Deficiency of hyaluronoglucosaminidase 50,302,573(-) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs116482870 likely-benign, Deficiency of hyaluronoglucosaminidase 50,302,191(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs117179004 likely-benign, Deficiency of hyaluronoglucosaminidase 50,300,616(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs12488302 benign, Deficiency of hyaluronoglucosaminidase 50,303,895(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HYAL1 Gene

Variant ID Type Subtype PubMed ID
dgv8316n54 CNV loss 21841781
dgv8317n54 CNV loss 21841781
esv1266548 CNV deletion 17803354
esv2665476 CNV deletion 23128226
esv2671943 CNV deletion 23128226
esv2759148 CNV loss 17122850
esv29569 CNV loss 19812545
esv3561869 CNV deletion 23714750
esv3596141 CNV loss 21293372
nsv3813 CNV deletion 18451855
nsv460531 CNV loss 19166990
nsv470561 CNV loss 18288195
nsv523560 CNV loss 19592680
nsv523662 CNV loss 19592680
nsv590255 CNV loss 21841781
nsv834692 CNV loss 17160897
nsv834693 CNV loss 17160897
nsv954855 CNV deletion 24416366

Variation tolerance for HYAL1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HYAL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HYAL1 Gene

Disorders for HYAL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HYAL1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HYAL1 in MalaCards View complete list of genes associated with diseases


  • Mucopolysaccharidosis 9 (MPS9) [MIM:601492]: A lysosomal storage disease characterized by high hyaluronan concentration in the serum. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement. {ECO:0000269 PubMed:10339581}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HYAL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HYAL1: view

No data available for Genatlas for HYAL1 Gene

Publications for HYAL1 Gene

  1. Purification, cloning, and expression of human plasma hyaluronidase. (PMID: 9223416) Frost GI … Csóka TB (Biochemical and biophysical research communications 1997) 2 3 4 22 58
  2. Structure of human hyaluronidase-1, a hyaluronan hydrolyzing enzyme involved in tumor growth and angiogenesis. (PMID: 17503783) Chao KL … Herzberg O (Biochemistry 2007) 3 4 22 58
  3. Regulation of hyaluronidase activity by alternative mRNA splicing. (PMID: 12084718) Lokeshwar VB … Iida N (The Journal of biological chemistry 2002) 3 4 22 58
  4. HYAL1LUCA-1, a candidate tumor suppressor gene on chromosome 3p21.3, is inactivated in head and neck squamous cell carcinomas by aberrant splicing of pre-mRNA. (PMID: 10702795) Frost GI … Stern R (Oncogene 2000) 3 4 22 58
  5. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. (PMID: 10339581) Triggs-Raine B … Natowicz MR (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 22 58

Products for HYAL1 Gene

Sources for HYAL1 Gene