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    HYAL3 hyaluronidase 3 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001200029.2NP_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:24349
      Glyco_hydro_56; Hyaluronidase
    2. NM_001200030.2NP_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:24319
      Glyco_hydro_56; Hyaluronidase
    3. NM_001200031.2NP_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:3100
      Glyco_hydro_56; Hyaluronidase
    4. NM_001200032.2NP_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:370
      Glyco_hydro_56; Hyaluronidase
    5. NM_003549.4NP_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:24349
      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)