hyaluronidase 1

Summary
Gene Symbol
  • HYAL1
Aliases
  • HYAL-1
  • LUCA1
Organism
Homo sapiens (human)
NCBI Gene
3373
HGNC
5320
KEGG Gene ID
hsa:3373
PubChem
3373
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Glycoprotein
  • Glycosidase
  • Lysosome
  • Mucopolysaccharidosis
  • Reference proteome
  • Secreted
  • Signal
Proteins
Displaying all 4 entries
UniProt Protein Name
A0A024R2X3
A0A0S2Z3Q0
B3KUI5
Q12794
  • Hyaluronoglucosaminidase-1
  • Lung carcinoma protein 1
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Hyaluronidase
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K01197
Name
hyaluronoglucosaminidase [EC:3.2.1.35]
References
Reactions
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0050809 mucopolysaccharidosis IX
DOID:12798 mucopolysaccharidosis
DOID:6432 pulmonary hypertension
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000403 Recurrent otitis media
HP:0000934 Chondrocalcinosis
HP:0003170 Abnormal acetabulum morphology
HP:0003621 Juvenile onset
HP:0004322 Short stature
HP:0004626 Lumbar scoliosis
HP:0005072 Wrist hypermobility
Displaying all 2 entries
Disease ID Disease Name
OMIM:601492
  • mucopolysaccharidosis type 9
ORPHA:67041
  • mucopolysaccharidosis type 9

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024