Homo sapiens Gene: HYAL3
Summary
InnateDB Gene IDBG-36306.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HYAL3
Gene Name hyaluronoglucosaminidase 3
Synonyms HYAL-3; LUCA-3; LUCA3;
Species Homo sapiens
Ensembl Gene ENSG00000186792
Encoded Proteins
hyaluronoglucosaminidase 3
hyaluronoglucosaminidase 3
hyaluronoglucosaminidase 3
hyaluronoglucosaminidase 3
hyaluronoglucosaminidase 3
hyaluronoglucosaminidase 3
hyaluronoglucosaminidase 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:50292828-50299468
Strand Reverse strand
Band p21.31
Transcripts
ENST00000336307 ENSP00000337425
ENST00000359051 ENSP00000351946
ENST00000415204 ENSP00000401092
ENST00000450982 ENSP00000391922
ENST00000435141 ENSP00000391663
ENST00000513170 ENSP00000424633
ENST00000621157 ENSP00000479935
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004415 hyalurononglucosaminidase activity
GO:0033906 hyaluronoglucuronidase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006954 inflammatory response
GO:0009615 response to virus
GO:0030214 hyaluronan catabolic process
GO:0046677 response to antibiotic
GO:0051216 cartilage development
GO:0071347 cellular response to interleukin-1
GO:0071356 cellular response to tumor necrosis factor
GO:0071493 cellular response to UV-B
Cellular Component
GO:0005576 extracellular region
GO:0005764 lysosome
GO:0031410 cytoplasmic vesicle
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
CS/DS degradation pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Hyaluronan uptake and degradation pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
Hyaluronan metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan degradation pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL A0A024R2Y7 C9JB51
UniProt Splice Variant
Entrez Gene 8372
UniGene
RefSeq NM_001200029 NM_003549 NM_001200031 NM_001200032 NM_001200030
HUGO HGNC:5322
OMIM 604038
CCDS CCDS2815 CCDS56257 CCDS56260 CCDS56259
HPRD
IMGT
EMBL AF036035 AF040710 AF502909 AF502910 AF502911 AF502912 BC005896 BC012892 CH471055 U73167
GenPept AAC02729 AAC70915 AAD04257 AAH05896 AAH12892 AAM60775 AAM60776 AAM60777 AAM60778 EAW65073 EAW65075
RNA Seq Atlas 8372