Hyal1 hyaluronoglucosaminidase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hyal1provided by MGI
Official Full Name: hyaluronoglucosaminidase 1provided by MGI
Primary source: MGI:MGI:96298
See related: Ensembl:ENSMUSG00000010051 AllianceGenome:MGI:96298
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fus2; Hya1; Nat6; Hyal-1
Summary: Enables chondroitin hydrolase activity and hyalurononglucosaminidase activity. Involved in chondroitin sulfate catabolic process; hyaluronan catabolic process; and response to virus. Acts upstream of or within embryonic skeletal joint morphogenesis. Is active in lysosome. Is expressed in liver; metanephros; and renal tubule. Used to study mucopolysaccharidosis IX. Human ortholog(s) of this gene implicated in mucopolysaccharidosis and mucopolysaccharidosis IX. Orthologous to human HYAL1 (hyaluronidase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in liver adult (RPKM 16.1), lung adult (RPKM 10.4) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F1; 9 58.17 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (107454149..107458898)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (107576950..107581699)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HYAL1 deficiency attenuates lipopolysaccharide-triggered renal injury and endothelial glycocalyx breakdown in septic AKI in mice.
Title: HYAL1 deficiency attenuates lipopolysaccharide-triggered renal injury and endothelial glycocalyx breakdown in septic AKI in mice.
Hyaluronidase 1 deficiency decreases bone mineral density in mice.
Title: Hyaluronidase 1 deficiency decreases bone mineral density in mice.
It was concluded that: HYAL1 and HYAL2 are both needed for tissue HA catabolism; 2) HYAL2 is required for high MW HA clearance in lymph nodes and plasma and for HA endocytosis by liver NPCs; and 3) the main role of HYAL1 is HA degradation within liver NPCs.
Title: Respective roles of hyaluronidases 1 and 2 in endogenous hyaluronan turnover.
Findings suggest that HYAL1 contributes to endothelial and glycocalyx dysfunction induced by diabetes. HYAL1 inhibitors could be explored as a new therapeutic approach to prevent vascular complications in diabetes.
Title: Hyaluronidase 1 Deficiency Preserves Endothelial Function and Glycocalyx Integrity in Early Streptozotocin-Induced Diabetes.
HYAL1 is necessary for the breakdown of intracellular HA in the cortex, whereas HYAL2 is essential for the degradation of extracellular HA in all kidney regions
Title: Hyaluronidase 1 and hyaluronidase 2 are required for renal hyaluronan turnover.
The activity of the processed form of Hyal-1 was largely underestimated.
Title: Subcellular trafficking and activity of Hyal-1 and its processed forms in murine macrophages.
The knockdown of Hyal-1 results in an 80% decrease of total acid hyaluronidase activity in the mouse liver, confirming that Hyal-1 is a key actor of hyaluronic acid catabolism in this organ.
Title: Mouse liver lysosomes contain enzymatically active processed forms of Hyal-1.
Chondroitin sulfate is a crucial determinant for skeletal muscle development/regeneration and improvement of muscular dystrophies through HYAL1
Title: Chondroitin sulfate is a crucial determinant for skeletal muscle development/regeneration and improvement of muscular dystrophies.
both HYAL1 and beta-hexosaminidase cleave chondroitin sulfate, but it is a preferred substrate for beta-hexosaminidase. These studies provide in vivo evidence to support and extend existing knowledge of GAG breakdown.
Title: Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.
Data show that Hyal-1, but not Hyal-3,is an ovarian regulator factor for follicle development, and show an interrelationship between this enzyme and the follistatin/activin/Smad3 pathway.
Title: Hyal-1 but not Hyal-3 deficiency has an impact on ovarian folliculogenesis and female fertility by altering the follistatin/activin/Smad3 pathway and the apoptotic process.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Markers

RH136004 (e-PCR)
- UniSTS:210000

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AF011567 (e-PCR)
- UniSTS:163468

Hyal1 (e-PCR), detects polymorphism
- UniSTS:526011

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chondroitin hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hyaluronan synthase activity	ISO Inferred from Sequence Orthology more info
enables hyalurononglucosaminidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hyalurononglucosaminidase activity	ISO Inferred from Sequence Orthology more info
enables hyalurononglucosaminidase activity	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to UV-B	ISO Inferred from Sequence Orthology more info
involved_in cellular response to UV-B	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to fibroblast growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fibroblast growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to interleukin-1	ISO Inferred from Sequence Orthology more info
involved_in cellular response to interleukin-1	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to pH	ISO Inferred from Sequence Orthology more info
involved_in cellular response to pH	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to platelet-derived growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to platelet-derived growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal joint morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hyaluronan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in hyaluronan catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hyaluronan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hyaluronan catabolic process	ISO Inferred from Sequence Orthology more info
involved_in hyaluronan catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in hyaluronan metabolic process	ISO Inferred from Sequence Orthology more info
involved_in hyaluronan metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epithelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hyaluranon cable assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hyaluranon cable assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to antibiotic	ISO Inferred from Sequence Orthology more info
involved_in response to antibiotic	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to reactive oxygen species	ISO Inferred from Sequence Orthology more info
involved_in response to reactive oxygen species	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in response to virus	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
located_in hyaluranon cable	ISO Inferred from Sequence Orthology more info
located_in hyaluranon cable	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: hyaluronidase-1

Names: N-acetyltransferase 6; Protein fus-2; Protein fusion-2

NP_001318090.2

EC 3.2.1.35

NP_032343.3

EC 3.2.1.35

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)

NM_001331161.2 → NP_001318090.2 hyaluronidase-1 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus compared to isoform 1.

Source sequence(s)

AL672219

UniProtKB/Swiss-Prot

B1AV90, O70229, Q8CE62, Q8QZX3, Q8VBW7, Q8VDK0, Q91ZJ9

Related

ENSMUSP00000108006.3, ENSMUST00000112387.9

Conserved Domains (1) summary

pfam01630
Location:41 → 366

Glyco_hydro_56; Hyaluronidase
NM_008317.6 → NP_032343.3 hyaluronidase-1 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL672219

Consensus CDS

CCDS23497.1

UniProtKB/Swiss-Prot

B1AV90, O70229, Q8CE62, Q8QZX3, Q8VBW7, Q8VDK0, Q91ZJ9

Related

ENSMUSP00000010195.8, ENSMUST00000010195.14

Conserved Domains (1) summary

pfam01630
Location:41 → 366

Glyco_hydro_56; Hyaluronidase