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    HYAL3 hyaluronidase 3 [ Homo sapiens (human) ]

    Gene ID: 8372, updated on 17-Jun-2024

    Summary

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    Official Symbol
    HYAL3provided by HGNC
    Official Full Name
    hyaluronidase 3provided by HGNC
    Primary source
    HGNC:HGNC:5322
    See related
    Ensembl:ENSG00000186792 MIM:604038; AllianceGenome:HGNC:5322
    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
    LUCA3; HYAL-3; LUCA-3
    Summary
    This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
    Expression
    Broad expression in bone marrow (RPKM 11.6), testis (RPKM 6.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HYAL3 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50292832..50299405, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50322188..50328761, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50330263..50336836, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene semaphorin 3B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50310784-50311307 Neighboring gene microRNA 6872 Neighboring gene leucine rich single-pass membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19898 Neighboring gene interferon related developmental regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50330739-50331294 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 hyaluronidase 1 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

    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
    • 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. HYAL3 as a potential novel marker of BLCA patient prognosis. Liu JP, et al. BMC Genom Data, 2022 Aug 9. PMID 35945500, Free PMC Article
    2. Analysis of HYAL3 gene mutations in Chinese lung squamous cell carcinoma patients. Zhang RX, et al. Tumori, 2013 Jan-Feb. PMID 23549009
    3. Isoforms of hyaluronidases can be a predictor of a prostate cancer of good prognosis. de Sá VK, et al. Urol Oncol, 2009 Jul-Aug. PMID 18639473
    4. Expression of hyaluronan synthases and hyaluronidases in the MG63 osteoblast cell line. Adams JR, et al. Matrix Biol, 2006 Jan. PMID 16203124
    5. Devising a pathway for hyaluronan catabolism: are we there yet? Stern R. Glycobiology, 2003 Dec. PMID 14514708

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HYAL3 as a potential novel marker of BLCA patient prognosis.
      Title: HYAL3 as a potential novel marker of BLCA patient prognosis.
    2. 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.
    3. the relative expression of hyalurosome (CD44, HAS3, HB-EGF) genes was found to be reduced in patients prior to topical treatment and to be notably increased following treatment.
      Title: Hyalurosome gene regulation and dose-dependent restoration of skin atrophy by retinaldehyde and defined-size hyaluronate fragments in dermatoporosis.
    4. mutations of the HYAL3 gene are rare in Chinese lung squamous cell carcinoma patients and might contribute to lymph node metastasis
      Title: Analysis of HYAL3 gene mutations in Chinese lung squamous cell carcinoma patients.
    5. polymorphisms in HYAL3 are potentially involved in glaucomatous neurodegeneration.
      Title: Genetic association and gene-gene interaction of HAS2, HABP1 and HYAL3 implicate hyaluronan metabolic genes in glaucomatous neurodegeneration.
    6. Nodular basal cell carcinoma is associated with increased levels of hyaluronic acid concomitant with upregulation of gene expression of HAS3, HYAL3 and RHAMM, when compared with normal adjacent skin.
      Title: Nodular basal cell carcinoma is associated with increased hyaluronan homeostasis.
    7. Overexpression of HYAL3 is associated with colorectal cancer.
      Title: Involvement of hyaluronidases in colorectal cancer.
    8. Hyal3 null sperm showed delayed cumulus penetration and reduced acrosomal exocytosis.
      Title: Acidic hyaluronidase activity is present in mouse sperm and is reduced in the absence of SPAM1: evidence for a role for hyaluronidase 3 in mouse and human sperm.
    9. Alternative mRNA splicing controls cellular expression of enzymatically active hyaluronidase.
      Title: Regulation of hyaluronidase activity by alternative mRNA splicing.
    10. Down-regulation of HYAL3 is associated with small cell lung cancer and glioma
      Title: Expression and regulation patterns of hyaluronidases in small cell lung cancer and glioma lines.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hyaluronoglucuronidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hyalurononglucosaminidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 interleukin-1 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 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 inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of ovarian follicle development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ovarian follicle atresia ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in penetration of zona pellucida ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of acrosomal vesicle exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to antibiotic IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm midpiece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    hyaluronidase-3
    Names
    hyaluronoglucosaminidase 3
    lung carcinoma protein 3
    NP_001186958.1
    NP_001186959.1
    NP_001186960.1
    NP_001186961.1
    NP_003540.2

    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.

    mRNA and Protein(s)

    1. NM_001200029.2 → NP_001186958.1  hyaluronidase-3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001186958.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode the same protein (isoform 1).
      Source sequence(s)
      BC012892, DB269188, U90094
      Consensus CDS
      CCDS2815.1
      UniProtKB/Swiss-Prot
      O43820, O60540, Q8NFK2, Q8NFK3, Q8NFK4, Q96E56, Q9BRW9
      UniProtKB/TrEMBL
      B2R8P5
      Related
      ENSP00000479935.1, ENST00000621157.5
      Conserved Domains (1) summary
      pfam01630
      Location:24 → 349
      Glyco_hydro_56; Hyaluronidase

    2. NM_001200030.2 → NP_001186959.1  hyaluronidase-3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001186959.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as HYAL3-v1, lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF036035, AF502909, DB319349
      Consensus CDS
      CCDS56257.1
      UniProtKB/TrEMBL
      B2R8P5
      Related
      ENSP00000391922.1, ENST00000450982.6
      Conserved Domains (1) summary
      pfam01630
      Location:24 → 319
      Glyco_hydro_56; Hyaluronidase

    3. NM_001200031.2 → NP_001186960.1  hyaluronidase-3 isoform 3

      See identical proteins and their annotated locations for NP_001186960.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as HYAL3-v2, initiates translation at an upstream start codon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AF036035, AF502910, DB319349
      Consensus CDS
      CCDS56260.1
      UniProtKB/Swiss-Prot
      O43820
      Related
      ENSP00000401092.1, ENST00000415204.5
      Conserved Domains (1) summary
      pfam01630
      Location:3 → 100
      Glyco_hydro_56; Hyaluronidase

    4. NM_001200032.2 → NP_001186961.1  hyaluronidase-3 isoform 4

      See identical proteins and their annotated locations for NP_001186961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also known as HYAL3-v3, initiates translation at an upstream start codon and has multiple differences in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AF036035, AF502911, DB319349
      Consensus CDS
      CCDS56259.1
      UniProtKB/Swiss-Prot
      O43820
      Related
      ENSP00000424633.1, ENST00000513170.1
      Conserved Domains (1) summary
      pfam01630
      Location:3 → 70
      Glyco_hydro_56; Hyaluronidase

    5. NM_003549.4 → NP_003540.2  hyaluronidase-3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_003540.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as HYAL3-wt, represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 5 encode the same protein.
      Source sequence(s)
      AF036035
      Consensus CDS
      CCDS2815.1
      UniProtKB/Swiss-Prot
      O43820, O60540, Q8NFK2, Q8NFK3, Q8NFK4, Q96E56, Q9BRW9
      UniProtKB/TrEMBL
      B2R8P5
      Related
      ENSP00000337425.1, ENST00000336307.6
      Conserved Domains (1) summary
      pfam01630
      Location:24 → 349
      Glyco_hydro_56; Hyaluronidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      50292832..50299405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50322188..50328761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43820.1 GenPept UniProtKB/Swiss-Prot:O43820

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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