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    HYAL1 hyaluronidase 1 [ Homo sapiens (human) ]

    Gene ID: 3373, updated on 2-Nov-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
    mouse all
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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
    		Compare labs

    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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    NEW Try the new Transcript table

    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

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