Homo sapiens Gene: HYAL1
Summary
InnateDB Gene IDBG-36447.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HYAL1
Gene Name hyaluronoglucosaminidase 1
Synonyms HYAL-1; LUCA1; NAT6;
Species Homo sapiens
Ensembl Gene ENSG00000114378
Encoded Proteins
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
hyaluronoglucosaminidase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:50299889-50312381
Strand Reverse strand
Band p21.31
Transcripts
ENST00000266031 ENSP00000266031
ENST00000320295 ENSP00000346068
ENST00000395144 ENSP00000378576
ENST00000395143 ENSP00000378575
ENST00000447605 ENSP00000390149
ENST00000457214 ENSP00000393358
ENST00000418723 ENSP00000394526
ENST00000452672 ENSP00000391666
ENST00000618175 ENSP00000477903
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 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004415 hyalurononglucosaminidase activity
GO:0008134 transcription factor binding
GO:0050501 hyaluronan synthase activity
Biological Process
GO:0000302 response to reactive oxygen species
GO:0005975 carbohydrate metabolic process
GO:0006954 inflammatory response
GO:0009615 response to virus
GO:0010634 positive regulation of epithelial cell migration
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030207 chondroitin sulfate catabolic process
GO:0030212 hyaluronan metabolic process
GO:0030213 hyaluronan biosynthetic process
GO:0030214 hyaluronan catabolic process
GO:0030307 positive regulation of cell growth
GO:0030308 negative regulation of cell growth
GO:0036120 cellular response to platelet-derived growth factor stimulus
GO:0044281 small molecule metabolic process
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045766 positive regulation of angiogenesis
GO:0045785 positive regulation of cell adhesion
GO:0045927 positive regulation of growth
GO:0046677 response to antibiotic
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051216 cartilage development
GO:0060272 embryonic skeletal joint morphogenesis
GO:0071347 cellular response to interleukin-1
GO:0071356 cellular response to tumor necrosis factor
GO:0071467 cellular response to pH
GO:0071493 cellular response to UV-B
GO:1900106 positive regulation of hyaluranon cable assembly
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0031410 cytoplasmic vesicle
GO:0036117 hyaluranon cable
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
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
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q12794
TrEMBL
UniProt Splice Variant
Entrez Gene 3373
UniGene Hs.742482 Hs.75619
RefSeq NM_153285 NM_033159 NM_153281 NM_153282 NM_153283
HUGO HGNC:5320
OMIM 607071
CCDS CCDS46833 CCDS2816 CCDS2817 CCDS46832
HPRD 06146
IMGT
EMBL AC002455 AF118821 AF173154 AF502904 AF502905 AF502906 AF502907 AF502908 BC025774 BC035695 CR541933 U03056 U73167 U96078
GenPept AAB67046 AAC02730 AAD04190 AAD09137 AAD24460 AAD53277 AAH25774 AAH35695 AAM60770 AAM60771 AAM60772 AAM60773 AAM60774 CAG46731
RNA Seq Atlas 3373