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HYAL1 hyaluronidase 1 [ Homo sapiens (human) ]

Gene ID: 3373, updated on 28-Oct-2024

Summary

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Official Symbol
HYAL1provided by HGNC
Official Full Name
hyaluronidase 1provided by HGNC
Primary source
HGNC:HGNC:5320
See related
Ensembl:ENSG00000114378 MIM:607071; AllianceGenome:HGNC:5320
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MPS9; NAT6; LUCA1; HYAL-1
Summary
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]
Expression
Biased expression in liver (RPKM 19.6), spleen (RPKM 16.7) and 10 other tissues See more
Orthologs
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Genomic context

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See HYAL1 in Genome Data Viewer
Location:
3p21.31
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50299893..50312381, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50329249..50342103, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50337324..50349812, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene leucine rich single-pass membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14390 Neighboring gene interferon related developmental regulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50330739-50331294 Neighboring gene hyaluronidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19899 Neighboring gene N-alpha-acetyltransferase 80, NatH catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50340489-50341423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50357211-50357884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50359913-50360586 Neighboring gene hyaluronidase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50361369-50361870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14392 Neighboring gene tumor suppressor 2, mitochondrial calcium regulator

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Substitution of acidic residues near the catalytic Glu131 leads to human HYAL1 activity at neutral pH via charge-charge interactions. Nguyen TA, et al. PLoS One, 2024. PMID 39121049, Free PMC Article
  2. Comparison of hyaluronidase expression, invasiveness and tubule formation promotion in ER (-) and ER (+) breast cancer cell lines in vitro. Wang XY, et al. Chin Med J (Engl), 2009 Jun 5. PMID 19567141
  3. A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. Imundo L, et al. J Inherit Metab Dis, 2011 Oct. PMID 21559944
  4. HYAL-1 hyaluronidase: a potential prognostic indicator for progression to muscle invasion and recurrence in bladder cancer. Kramer MW, et al. Eur Urol, 2010 Jan. PMID 19345473, Free PMC Article
  5. Hyaluronidase activity of human Hyal1 requires active site acidic and tyrosine residues. Zhang L, et al. J Biol Chem, 2009 Apr 3. PMID 19201751, Free PMC Article

See all (84) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Substitution of acidic residues near the catalytic Glu131 leads to human HYAL1 activity at neutral pH via charge-charge interactions.
    Title: Substitution of acidic residues near the catalytic Glu131 leads to human HYAL1 activity at neutral pH via charge-charge interactions.
  2. Epidermal keratinocytes regulate hyaluronan metabolism via extracellularly secreted hyaluronidase 1 and hyaluronan synthase 3.
    Title: Epidermal keratinocytes regulate hyaluronan metabolism via extracellularly secreted hyaluronidase 1 and hyaluronan synthase 3.
  3. Tumor-derived exosomal hyaluronidase 1 induced M2 macrophage polarization and promoted esophageal cancer progression.
    Title: Tumor-derived exosomal hyaluronidase 1 induced M2 macrophage polarization and promoted esophageal cancer progression.
  4. Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy.
    Title: Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy.
  5. A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase 1 (HYAL1) is associated with increased risk of idiopathic pulmonary fibrosis in Southern Han Chinese.
    Title: A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase 1 (HYAL1) is associated with increased risk of idiopathic pulmonary fibrosis in Southern Han Chinese.
  6. Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc.
    Title: Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc.
  7. The role of hyaluronic acid and hyaluronidase-1 in obstructive sleep apnoea.
    Title: The role of hyaluronic acid and hyaluronidase-1 in obstructive sleep apnoea.
  8. HYAL1 Is Downregulated in Idiopathic Pulmonary Fibrosis and Inhibits HFL-1 Fibroblast Proliferation When Upregulated.
    Title: HYAL1 Is Downregulated in Idiopathic Pulmonary Fibrosis and Inhibits HFL-1 Fibroblast Proliferation When Upregulated.
  9. HYAL-1-induced autophagy facilitates pancreatic fistula for patients who underwent pancreaticoduodenectomy.
    Title: HYAL-1-induced autophagy facilitates pancreatic fistula for patients who underwent pancreaticoduodenectomy.
  10. HYAL1/2 suppress colorectal cancer cell metastasis by regulating MMPs/TIMPs balance and rearranging F-actin distribution, inhibiting invasion and migration of cancer cells.
    Title: The suppressive role of HYAL1 and HYAL2 in the metastasis of colorectal cancer.
Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Deficiency of hyaluronoglucosaminidase
MedGen: C1291490 OMIM: 601492 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC45987

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chondroitin hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
NOT enables hyalurononglucosaminidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hyalurononglucosaminidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hyalurononglucosaminidase activity TAS
Traceable Author Statement
more info
  
NOT enables virus receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cartilage development IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in cellular response to UV-B IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to fibroblast growth factor stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to interleukin-1 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to pH IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to platelet-derived growth factor stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to tumor necrosis factor IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in chondroitin sulfate catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic skeletal joint morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
  
involved_in hyaluronan catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in hyaluronan catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hyaluronan catabolic process TAS
Traceable Author Statement
more info
  
involved_in hyaluronan metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inflammatory response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of hyaluranon cable assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to antibiotic IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to reactive oxygen species IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in hyaluranon cable IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
hyaluronidase-1
Names
hyaluronoglucosaminidase 1
luCa-1
lung carcinoma protein 1
plasma hyaluronidase
tumor suppressor LUCA-1
NP_149349.2
NP_695013.1
NP_695014.1
NP_695015.1
NP_695017.1
XP_011531970.1
XP_054202389.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009295.1 RefSeqGene

    Range
    13808..17489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033159.4 → NP_149349.2  hyaluronidase-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_149349.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 8. Variants 7 and 8 both encode the same isoform (1).
    Source sequence(s)
    BC035695, DA566755
    Consensus CDS
    CCDS2816.1
    UniProtKB/Swiss-Prot
    Q12794, Q6FH23, Q6PIZ6, Q7KYU2, Q7LE34, Q8NFK5, Q8NFK6, Q8NFK7, Q8NFK8, Q8NFK9, Q93013, Q9UKD5, Q9UNI8
    UniProtKB/TrEMBL
    A0A024R2X3, A0A0S2Z409, B3KUI5
    Related
    ENSP00000378576.2, ENST00000395144.7
    Conserved Domains (1) summary
    pfam01630
    Location:25 → 351
    Glyco_hydro_56; Hyaluronidase

  2. NM_153281.2 → NP_695013.1  hyaluronidase-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_695013.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) represents the longest transcript and encodes the longest isoform (1). Variants 7 and 8 both encode the same isoform (1).
    Source sequence(s)
    AK097287, BC035695
    Consensus CDS
    CCDS2816.1
    UniProtKB/Swiss-Prot
    Q12794, Q6FH23, Q6PIZ6, Q7KYU2, Q7LE34, Q8NFK5, Q8NFK6, Q8NFK7, Q8NFK8, Q8NFK9, Q93013, Q9UKD5, Q9UNI8
    UniProtKB/TrEMBL
    A0A024R2X3, A0A0S2Z409, B3KUI5
    Related
    ENSP00000346068.5, ENST00000320295.12
    Conserved Domains (1) summary
    pfam01630
    Location:25 → 351
    Glyco_hydro_56; Hyaluronidase

  3. NM_153282.3 → NP_695014.1  hyaluronidase-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_695014.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 8. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF502904, BC035695, DA566755
    Consensus CDS
    CCDS2817.1
    UniProtKB/TrEMBL
    A0A0S2Z3Q0, B3KUI5
    Related
    ENSP00000378575.2, ENST00000395143.6
    Conserved Domains (1) summary
    pfam01630
    Location:25 → 321
    Glyco_hydro_56; Hyaluronidase

  4. NM_153283.3 → NP_695015.1  hyaluronidase-1 isoform 3

    See identical proteins and their annotated locations for NP_695015.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of a coding exon compared to variant 8. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AF502905, BC035695, DA566755
    Consensus CDS
    CCDS46832.1
    UniProtKB/Swiss-Prot
    Q12794
    Related
    ENSP00000393358.2, ENST00000457214.6
    Conserved Domains (1) summary
    pfam01630
    Location:1 → 169
    Glyco_hydro_56; Hyaluronidase

  5. NM_153285.3 → NP_695017.1  hyaluronidase-1 isoform 5

    See identical proteins and their annotated locations for NP_695017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal segment including a part of the 5' UTR and a part of the coding region, as compared to variant 8. The resulting isoform (5) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF502907, BC035695, DA566755
    Consensus CDS
    CCDS46833.1
    UniProtKB/Swiss-Prot
    Q12794
    Related
    ENSP00000390149.2, ENST00000447605.2
    Conserved Domains (1) summary
    pfam01630
    Location:1 → 92
    Glyco_hydro_56; Hyaluronidase

RNA

  1. NR_047690.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 8. This variant contains a 75 aa upstream open reading frame with a strong Kozak signal, so this transcript is thought to be non-protein coding.
    Source sequence(s)
    BC035695, DA566755, U03056

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    50299893..50312381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533668.3 → XP_011531970.1  hyaluronidase-1 isoform X1

    See identical proteins and their annotated locations for XP_011531970.1

    UniProtKB/Swiss-Prot
    Q12794, Q6FH23, Q6PIZ6, Q7KYU2, Q7LE34, Q8NFK5, Q8NFK6, Q8NFK7, Q8NFK8, Q8NFK9, Q93013, Q9UKD5, Q9UNI8
    UniProtKB/TrEMBL
    A0A024R2X3, A0A0S2Z409, B3KUI5
    Related
    ENSP00000477903.1, ENST00000618175.4
    Conserved Domains (1) summary
    pfam01630
    Location:25 → 351
    Glyco_hydro_56; Hyaluronidase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    50329249..50342103 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346414.1 → XP_054202389.1  hyaluronidase-1 isoform X1

    UniProtKB/Swiss-Prot
    Q12794, Q6FH23, Q6PIZ6, Q7KYU2, Q7LE34, Q8NFK5, Q8NFK6, Q8NFK7, Q8NFK8, Q8NFK9, Q93013, Q9UKD5, Q9UNI8
    UniProtKB/TrEMBL
    A0A024R2X3, A0A0S2Z409

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153284.1: Suppressed sequence

    Description
    NM_153284.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.

  2. NM_153286.1: Suppressed sequence

    Description
    NM_153286.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12794.2 GenPept UniProtKB/Swiss-Prot:Q12794

Gene LinkOut

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