Homo sapiens Protein: HYAL1
Summary
InnateDB Protein IDBP-36451.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HYAL1
Protein Name hyaluronoglucosaminidase 1
Synonyms HYAL-1; LUCA1; NAT6;
Species Homo sapiens
Ensembl Protein ENSP00000346068
InnateDB Gene IDBG-36447 (HYAL1)
Protein Structure
UniProt Annotation
Function May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth. {ECO:0000269PubMed:12084718}.
Subcellular Localization Secreted {ECO:0000269PubMed:9223416}. Lysosome {ECO:0000269PubMed:9223416}.
Disease Associations Mucopolysaccharidosis 9 (MPS9) [MIM:601492]: A lysosomal storage disease characterized by high hyaluronan concentration in the serum. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement. {ECO:0000269PubMed:10339581}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in the liver, kidney and heart. Weakly expressed in lung, placenta and skeletal muscle. No expression detected in adult brain. Isoform 1 is expressed only in bladder and prostate cancer cells, G2/G3 bladder tumor tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5 and isoform 6 are expressed in normal bladder and bladder tumor tissues. {ECO:0000269PubMed:10339581, ECO:0000269PubMed:12084718, ECO:0000269PubMed:9223416}.
Comments
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: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
Protein Structure and Domains
PDB ID
InterPro IPR017853 Glycoside hydrolase, superfamily
IPR018155 Hyaluronidase
PFAM PF01630
PRINTS PR00846
PIRSF PIRSF038193
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q12794
PhosphoSite PhosphoSite-Q12794
TrEMBL C9JRK1
UniProt Splice Variant
Entrez Gene 3373
UniGene Hs.75619
RefSeq NP_695013
HUGO HGNC:5320
OMIM 607071
CCDS CCDS2816
HPRD 06146
IMGT
EMBL AC002455 AF118821 AF173154 AF502904 AF502905 AF502906 AF502907 AF502908 BC025774 BC035695 CH471055 CR541933 U03056 U73167 U96078
GenPept AAB67046 AAC02730 AAD04190 AAD09137 AAD24460 AAD53277 AAH25774 AAH35695 AAM60770 AAM60771 AAM60772 AAM60773 AAM60774 CAG46731 EAW65083 EAW65085 EAW65089 EAW65091