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Gene

HYAL1

hyaluronidase 1

Summary

Cytogenetic location
3p21.31
Coordinates
Chromosome 3: 50,299,893–50,303,574 (GRCh38)
Exons
4 exons across 3.7 kb
Protein
435 amino acids
Also known as
LUCA1, HYAL-1
MANE Select transcript
ENST00000395144.7NM_033159.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Lysosomal Storage Disease

      • Lysosomal storage disease (other and unspecified types)

        One of 59 genes linked to it

        Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

        • ClinGen rates the link moderate
        • 3 GenCC submitters rate it definitive or strong

    How HYAL1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 3, with a bracket where HYAL1 sits. HYAL1 and 31 genes near it on chromosome 3, from 49,801,734 to 50,801,733.Chromosome 33p21.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2950 Mb50.2 Mb50.4 Mb50.6 Mb50.8 MbINKA1: 49,803,228–49,805,237, forward strandINKA1UBA7: 49,805,205–49,814,151, reverse strandUBA7TRAIP: 49,828,595–49,856,597, reverse strandTRAIPCAMKV: 49,857,214–49,870,064, reverse strandCAMKVMST1R: 49,886,902–49,906,130, reverse strandMST1RMON1A: 49,907,160–49,930,173, reverse strandMON1ARBM6: 49,940,007–50,100,045, forward strandRBM6RBM5: 50,088,898–50,119,021, forward strandRBM5SEMA3F: 50,155,012–50,189,075, forward strandSEMA3FGNAT1: 50,191,586–50,197,696, forward strandGNAT1SLC38A3: 50,202,871–50,221,504, forward strandSLC38A3GNAI2: 50,226,292–50,259,362, forward strandGNAI2SEMA3B: 50,267,507–50,277,573, forward strandLSMEM2: 50,279,030–50,288,116, forward strandIFRD2: 50,286,003–50,292,918, reverse strandIFRD2HYAL3: 50,292,830–50,299,437, reverse strandHYAL3NAA80: 50,296,402–50,299,437, reverse strandNAA80HYAL1: 50,299,893–50,303,574, reverse strandHYAL1HYAL2: 50,313,396–50,324,687, reverse strandTUSC2: 50,320,027–50,328,251, reverse strandRASSF1: 50,329,782–50,340,980, reverse strandZMYND10: 50,341,110–50,345,746, reverse strandNPRL2: 50,347,330–50,350,826, reverse strandNPRL2CYB561D2: 50,350,834–50,358,460, forward strand: 50,350,892–50,367,923, forward strandTMEM115: 50,352,820–50,359,566, reverse strandCACNA2D2: 50,362,613–50,504,244, reverse strandC3orf18: 50,556,409–50,573,568, reverse strandC3orf18HEMK1: 50,567,895–50,596,168, forward strandHEMK1CISH: 50,606,456–50,611,984, reverse strandCISHMAPKAPK3: 50,611,487–50,651,017, forward strandMAPKAPK3DOCK3: 50,674,875–51,384,198, forward strandDOCK3Diagram of HYAL1: 4 exons on the reverse strand of chromosome 3Exon 4: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 44 known disease-causing sitesExon 4: 50,299,893–50,300,800, 908 basesExon 3: 50,300,988–50,301,077, 90 basesExon 2: 50,302,057–50,302,980, 924 basesExon 1: 50,303,466–50,303,574, 109 bases43215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 2 kb of the gene's 3.7 kb; 1,308 of those bases code for the protein.

    How a genome test reads HYAL1

    50

    positions in HYAL1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 3.7 kb of HYAL1, introns included, not only the 2 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). HYAL1 gene: hyaluronidase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/hyal1

    Vancouver

    Dante Labs. HYAL1 gene: hyaluronidase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hyal1

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