2pe4
From Proteopedia
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{{STRUCTURE_2pe4| PDB=2pe4 | SCENE= }} | {{STRUCTURE_2pe4| PDB=2pe4 | SCENE= }} | ||
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===Structure of Human Hyaluronidase 1, a Hyaluronan Hydrolyzing Enzyme Involved in Tumor Growth and Angiogenesis=== | ===Structure of Human Hyaluronidase 1, a Hyaluronan Hydrolyzing Enzyme Involved in Tumor Growth and Angiogenesis=== | ||
+ | {{ABSTRACT_PUBMED_17503783}} | ||
- | + | ==Disease== | |
+ | [[http://www.uniprot.org/uniprot/HYAL1_HUMAN HYAL1_HUMAN]] Defects in HYAL1 are the cause of mucopolysaccharidosis type 9 (MPS9) [MIM:[http://omim.org/entry/601492 601492]]; also called hyaluronidase deficiency. MPS9 is a lysosomal storage disease characterized by high hyaluronan (HA) 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.<ref>PMID:10339581</ref> | ||
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+ | ==Function== | ||
+ | [[http://www.uniprot.org/uniprot/HYAL1_HUMAN HYAL1_HUMAN]] May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.<ref>PMID:12084718</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
- | <ref group="xtra">PMID:017503783</ref><references group="xtra"/> | + | <ref group="xtra">PMID:017503783</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hyaluronoglucosaminidase]] | [[Category: Hyaluronoglucosaminidase]] |
Revision as of 20:21, 24 March 2013
Contents |
Structure of Human Hyaluronidase 1, a Hyaluronan Hydrolyzing Enzyme Involved in Tumor Growth and Angiogenesis
Template:ABSTRACT PUBMED 17503783
Disease
[HYAL1_HUMAN] Defects in HYAL1 are the cause of mucopolysaccharidosis type 9 (MPS9) [MIM:601492]; also called hyaluronidase deficiency. MPS9 is a lysosomal storage disease characterized by high hyaluronan (HA) 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.[1]
Function
[HYAL1_HUMAN] May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.[2]
About this Structure
2pe4 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Chao KL, Muthukumar L, Herzberg O. Structure of human hyaluronidase-1, a hyaluronan hydrolyzing enzyme involved in tumor growth and angiogenesis. Biochemistry. 2007 Jun 12;46(23):6911-20. Epub 2007 May 16. PMID:17503783 doi:10.1021/bi700382g
- ↑ Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6296-300. PMID:10339581
- ↑ Lokeshwar VB, Schroeder GL, Carey RI, Soloway MS, Iida N. Regulation of hyaluronidase activity by alternative mRNA splicing. J Biol Chem. 2002 Sep 13;277(37):33654-63. Epub 2002 Jun 25. PMID:12084718 doi:10.1074/jbc.M203821200