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hyaluronidase-1; hyal-1; hyaluronoglucosaminidase-1; lung carcinoma protein 1; LuCa-1 (HYAL1, LUCA1)
Function:
1) blocks TGFB1-enhanced cell growth
2) random hydrolysis of 1->4-linkages between N-acetyl-beta-D-glucosamine & D-glucuronate residues in hyaluronate
Kinetic parameters:
- Optimum pH is about 3.8
Structure:
- belongs to the glycosyl hydrolase 56 family
- contains 1 EGF-like domain
Compartment: secreted, lysosome
Alternative splicing: named isoforms=7
Expression:
- expressed in the liver, kidney, heart > lung, placenta, skeletal muscle
- not expressed in adult brain
Pathology:
1) may have a role in promoting tumor progression
a) isoform 1 is expressed only in bladder cancer & prostate cancer cells, G2/G3 bladder tumor tissues & lymph node showing tumor invasive tumors cells
b) isoforms 3,4,5 & 6 are expressed in normal bladder & bladder tumor tissues
2) defects in HYAL1 are a cause of mucopolysaccharidosis 9
Related
HYAL1 gene mutation
General
glycoprotein
hyaluronoglucosaminidase; hyaluronidase (HYAL)
secreted protein
Properties
SIZE: entity length = 435 aa
MW = 48 kD
COMPARTMENT: lysosome
MOTIF: signal sequence {1-21}
cysteine residue {C43}
MODIFICATION: cysteine residue {C333}
N-glycosylation site {N99}
glutamate residue {E131}
cysteine residue {C207}
MODIFICATION: cysteine residue {C221}
N-glycosylation site {N216}
cysteine residue {C221}
MODIFICATION: cysteine residue {C207}
cysteine residue {C333}
MODIFICATION: cysteine residue {C43}
N-glycosylation site {N350}
EGF domain {354-430}
MOTIF: cysteine residue {C358}
MODIFICATION: cysteine residue {C369}
cysteine residue {C363}
MODIFICATION: cysteine residue {C418}
cysteine residue {C369}
MODIFICATION: cysteine residue {C358}
cysteine residue {C418}
MODIFICATION: cysteine residue {C363}
cysteine residue {C420}
MODIFICATION: cysteine residue {C429}
cysteine residue {C429}
MODIFICATION: cysteine residue {C420}
Database Correlations
OMIM correlations
MORBIDMAP 607071
UniProt Q12794
Pfam PF01630
Entrez Gene 3373
Kegg hsa:3373
ENZYME 3.2.1.35
References
- UniProt :accession Q12794
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/HYAL1ID40903ch3p21.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/HYAL1