HYAL1: Difference between revisions

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{{Infobox_gene}}
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'''Hyaluronidase-1''' is an [[enzyme]] that in humans is encoded by the ''HYAL1'' [[gene]].<ref name="pmid9223416">{{cite journal |vauthors=Frost GI, Csoka AB, Wong T, Stern R | title = Purification, cloning, and expression of human plasma hyaluronidase | journal = Biochem Biophys Res Commun | volume = 236 | issue = 1 | pages = 10–5 |date=Aug 1997 | pmid = 9223416 | pmc =  | doi =10.1006/bbrc.1997.6773 }}</ref><ref name="pmid9409739">{{cite journal |vauthors=Csoka AB, Frost GI, Wong T, Stern R | title = Purification and microsequencing of hyaluronidase isozymes from human urine | journal = FEBS Lett | volume = 417 | issue = 3 | pages = 307–10 |date=Jan 1998 | pmid = 9409739 | pmc =  | doi =10.1016/S0014-5793(97)01309-4 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HYAL1 hyaluronoglucosaminidase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3373| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Hyaluronoglucosaminidase 1
| HGNCid = 5320
| Symbol = HYAL1
| AltSymbols =; HYAL-1; LUCA1; MGC45987; NAT6
| OMIM = 607071
| ECnumber =
| Homologene = 5277
| MGIid = 96298
  | GeneAtlas_image1 = PBB_GE_HYAL1_210619_s_at_tn.png
  | Function = {{GNF_GO|id=GO:0004415 |text = hyalurononglucosaminidase activity}} {{GNF_GO|id=GO:0016798 |text = hydrolase activity, acting on glycosyl bonds}}
| Component = {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0005764 |text = lysosome}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0008152 |text = metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3373
    | Hs_Ensembl = ENSG00000114378
    | Hs_RefseqProtein = NP_009296
    | Hs_RefseqmRNA = NM_007312
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 50312325
    | Hs_GenLoc_end = 50316008
    | Hs_Uniprot = Q12794
    | Mm_EntrezGene = 15586
    | Mm_Ensembl =   
    | Mm_RefseqmRNA = NM_008317
    | Mm_RefseqProtein = NP_032343
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Hyaluronoglucosaminidase 1''', also known as '''HYAL1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HYAL1 hyaluronoglucosaminidase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3373| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: HYAL1 hyaluronoglucosaminidase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3373| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez"/>
}}
}}


==References==
== See also ==
{{reflist|2}}
* [[Hyaluronidase deficiency]]
==Further reading==
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Wei MH, Latif F, Bader S, ''et al.'' |title=Construction of a 600-kilobase cosmid clone contig and generation of a transcriptional map surrounding the lung cancer tumor suppressor gene (TSG) locus on human chromosome 3p21.3: progress toward the isolation of a lung cancer TSG. |journal=Cancer Res. |volume=56 |issue= 7 |pages= 1487-92 |year= 1996 |pmid= 8603390 |doi=  }}
*{{cite journal   |vauthors=Wei MH, Latif F, Bader S, etal |title=Construction of a 600-kilobase cosmid clone contig and generation of a transcriptional map surrounding the lung cancer tumor suppressor gene (TSG) locus on human chromosome 3p21.3: progress toward the isolation of a lung cancer TSG. |journal=Cancer Res. |volume=56 |issue= 7 |pages= 1487–92 |year= 1996 |pmid= 8603390 |doi=  }}
*{{cite journal | author=Natowicz MR, Short MP, Wang Y, ''et al.'' |title=Clinical and biochemical manifestations of hyaluronidase deficiency. |journal=N. Engl. J. Med. |volume=335 |issue= 14 |pages= 1029-33 |year= 1996 |pmid= 8793927 |doi=  }}
*{{cite journal   |vauthors=Natowicz MR, Short MP, Wang Y, etal |title=Clinical and biochemical manifestations of hyaluronidase deficiency. |journal=N. Engl. J. Med. |volume=335 |issue= 14 |pages= 1029–33 |year= 1996 |pmid= 8793927 |doi=10.1056/NEJM199610033351405 }}
*{{cite journal | author=Frost GI, Csóka AB, Wong T, ''et al.'' |title=Purification, cloning, and expression of human plasma hyaluronidase. |journal=Biochem. Biophys. Res. Commun. |volume=236 |issue= 1 |pages= 10-5 |year= 1997 |pmid= 9223416 |doi= }}
*{{cite journal   |vauthors=Csóka AB, Frost GI, Heng HH, etal |title=The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus. |journal=Genomics |volume=48 |issue= 1 |pages= 63–70 |year= 1998 |pmid= 9503017 |doi=10.1006/geno.1997.5158  }}
*{{cite journal | author=Csóka AB, Frost GI, Wong T, ''et al.'' |title=Purification and microsequencing of hyaluronidase isozymes from human urine. |journal=FEBS Lett. |volume=417 |issue= 3 |pages= 307-10 |year= 1998 |pmid= 9409739 |doi= }}
*{{cite journal   |vauthors=Triggs-Raine B, Salo TJ, Zhang H, etal |title=Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 11 |pages= 6296–300 |year= 1999 |pmid= 10339581 |doi=10.1073/pnas.96.11.6296  | pmc=26875  }}
*{{cite journal | author=Csóka AB, Frost GI, Heng HH, ''et al.'' |title=The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus. |journal=Genomics |volume=48 |issue= 1 |pages= 63-70 |year= 1998 |pmid= 9503017 |doi= }}
*{{cite journal   |vauthors=Frost GI, Mohapatra G, Wong TM, etal |title=HYAL1LUCA-1, a candidate tumor suppressor gene on chromosome 3p21.3, is inactivated in head and neck squamous cell carcinomas by aberrant splicing of pre-mRNA. |journal=Oncogene |volume=19 |issue= 7 |pages= 870–7 |year= 2000 |pmid= 10702795 |doi= 10.1038/sj.onc.1203317 }}
*{{cite journal | author=Triggs-Raine B, Salo TJ, Zhang H, ''et al.'' |title=Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 11 |pages= 6296-300 |year= 1999 |pmid= 10339581 |doi= }}
*{{cite journal   |vauthors=Shuttleworth TL, Wilson MD, Wicklow BA, etal |title=Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3. |journal=J. Biol. Chem. |volume=277 |issue= 25 |pages= 23008–18 |year= 2002 |pmid= 11929860 |doi= 10.1074/jbc.M108991200 }}
*{{cite journal | author=Frost GI, Mohapatra G, Wong TM, ''et al.'' |title=HYAL1LUCA-1, a candidate tumor suppressor gene on chromosome 3p21.3, is inactivated in head and neck squamous cell carcinomas by aberrant splicing of pre-mRNA. |journal=Oncogene |volume=19 |issue= 7 |pages= 870-7 |year= 2000 |pmid= 10702795 |doi= 10.1038/sj.onc.1203317 }}
*{{cite journal   |vauthors=Lokeshwar VB, Schroeder GL, Carey RI, etal |title=Regulation of hyaluronidase activity by alternative mRNA splicing. |journal=J. Biol. Chem. |volume=277 |issue= 37 |pages= 33654–63 |year= 2002 |pmid= 12084718 |doi= 10.1074/jbc.M203821200 }}
*{{cite journal | author=Shuttleworth TL, Wilson MD, Wicklow BA, ''et al.'' |title=Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3. |journal=J. Biol. Chem. |volume=277 |issue= 25 |pages= 23008-18 |year= 2002 |pmid= 11929860 |doi= 10.1074/jbc.M108991200 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal  | author=Lokeshwar VB, Schroeder GL, Carey RI, ''et al.'' |title=Regulation of hyaluronidase activity by alternative mRNA splicing. |journal=J. Biol. Chem. |volume=277 |issue= 37 |pages= 33654-63 |year= 2002 |pmid= 12084718 |doi= 10.1074/jbc.M203821200 }}
*{{cite journal  |vauthors=Junker N, Latini S, Petersen LN, Kristjansen PE |title=Expression and regulation patterns of hyaluronidases in small cell lung cancer and glioma lines. |journal=Oncol. Rep. |volume=10 |issue= 3 |pages= 609–16 |year= 2003 |pmid= 12684632 |doi= 10.3892/or.10.3.609}}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Franzmann EJ, Schroeder GL, Goodwin WJ, etal |title=Expression of tumor markers hyaluronic acid and hyaluronidase (HYAL1) in head and neck tumors. |journal=Int. J. Cancer |volume=106 |issue= 3 |pages= 438–45 |year= 2003 |pmid= 12845686 |doi= 10.1002/ijc.11252 }}
*{{cite journal | author=Junker N, Latini S, Petersen LN, Kristjansen PE |title=Expression and regulation patterns of hyaluronidases in small cell lung cancer and glioma lines. |journal=Oncol. Rep. |volume=10 |issue= 3 |pages= 609-16 |year= 2003 |pmid= 12684632 |doi= }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Franzmann EJ, Schroeder GL, Goodwin WJ, ''et al.'' |title=Expression of tumor markers hyaluronic acid and hyaluronidase (HYAL1) in head and neck tumors. |journal=Int. J. Cancer |volume=106 |issue= 3 |pages= 438-45 |year= 2003 |pmid= 12845686 |doi= 10.1002/ijc.11252 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Muzny DM, Scherer SE, Kaul R, etal |title=The DNA sequence, annotation and analysis of human chromosome 3. |journal=Nature |volume=440 |issue= 7088 |pages= 1194–8 |year= 2006 |pmid= 16641997 |doi= 10.1038/nature04728 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Christopoulos TA, Papageorgakopoulou N, Theocharis DA, etal |title=Hyaluronidase and CD44 hyaluronan receptor expression in squamous cell laryngeal carcinoma. |journal=Biochim. Biophys. Acta |volume=1760 |issue= 7 |pages= 1039–45 |year= 2006 |pmid= 16713680 |doi= 10.1016/j.bbagen.2006.03.019 }}
*{{cite journal | author=Muzny DM, Scherer SE, Kaul R, ''et al.'' |title=The DNA sequence, annotation and analysis of human chromosome 3. |journal=Nature |volume=440 |issue= 7088 |pages= 1194-8 |year= 2006 |pmid= 16641997 |doi= 10.1038/nature04728 }}
*{{cite journal   |vauthors=Lokeshwar VB, Estrella V, Lopez L, etal |title=HYAL1-v1, an alternatively spliced variant of HYAL1 hyaluronidase: a negative regulator of bladder cancer. |journal=Cancer Res. |volume=66 |issue= 23 |pages= 11219–27 |year= 2007 |pmid= 17145867 |doi= 10.1158/0008-5472.CAN-06-1121 }}
*{{cite journal | author=Christopoulos TA, Papageorgakopoulou N, Theocharis DA, ''et al.'' |title=Hyaluronidase and CD44 hyaluronan receptor expression in squamous cell laryngeal carcinoma. |journal=Biochim. Biophys. Acta |volume=1760 |issue= 7 |pages= 1039-45 |year= 2006 |pmid= 16713680 |doi= 10.1016/j.bbagen.2006.03.019 }}
*{{cite journal   |vauthors=Hofinger ES, Spickenreither M, Oschmann J, etal |title=Recombinant human hyaluronidase Hyal-1: insect cells versus Escherichia coli as expression system and identification of low molecular weight inhibitors. |journal=Glycobiology |volume=17 |issue= 4 |pages= 444–53 |year= 2007 |pmid= 17227790 |doi= 10.1093/glycob/cwm003 }}
*{{cite journal | author=Lokeshwar VB, Estrella V, Lopez L, ''et al.'' |title=HYAL1-v1, an alternatively spliced variant of HYAL1 hyaluronidase: a negative regulator of bladder cancer. |journal=Cancer Res. |volume=66 |issue= 23 |pages= 11219-27 |year= 2007 |pmid= 17145867 |doi= 10.1158/0008-5472.CAN-06-1121 }}
*{{cite journal   |vauthors=Nieuwdorp M, Holleman F, de Groot E, etal |title=Perturbation of hyaluronan metabolism predisposes patients with type 1 diabetes mellitus to atherosclerosis. |journal=Diabetologia |volume=50 |issue= 6 |pages= 1288–93 |year= 2007 |pmid= 17415544 |doi= 10.1007/s00125-007-0666-4 | pmc=1914278 }}
*{{cite journal | author=Hofinger ES, Spickenreither M, Oschmann J, ''et al.'' |title=Recombinant human hyaluronidase Hyal-1: insect cells versus Escherichia coli as expression system and identification of low molecular weight inhibitors. |journal=Glycobiology |volume=17 |issue= 4 |pages= 444-53 |year= 2007 |pmid= 17227790 |doi= 10.1093/glycob/cwm003 }}
*{{cite journal  |vauthors=Bharadwaj AG, Rector K, Simpson MA |title=Inducible hyaluronan production reveals differential effects on prostate tumor cell growth and tumor angiogenesis. |journal=J. Biol. Chem. |volume=282 |issue= 28 |pages= 20561–72 |year= 2007 |pmid= 17502371 |doi= 10.1074/jbc.M702964200 }}
*{{cite journal  | author=Nieuwdorp M, Holleman F, de Groot E, ''et al.'' |title=Perturbation of hyaluronan metabolism predisposes patients with type 1 diabetes mellitus to atherosclerosis. |journal=Diabetologia |volume=50 |issue= 6 |pages= 1288-93 |year= 2007 |pmid= 17415544 |doi= 10.1007/s00125-007-0666-4 }}
*{{cite journal  | author=Bharadwaj AG, Rector K, Simpson MA |title=Inducible hyaluronan production reveals differential effects on prostate tumor cell growth and tumor angiogenesis. |journal=J. Biol. Chem. |volume=282 |issue= 28 |pages= 20561-72 |year= 2007 |pmid= 17502371 |doi= 10.1074/jbc.M702964200 }}
}}
}}
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Latest revision as of 14:11, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

Hyaluronidase-1 is an enzyme that in humans is encoded by the HYAL1 gene.[1][2][3]

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.[3]

See also

References

  1. ↑ Frost GI, Csoka AB, Wong T, Stern R (Aug 1997). "Purification, cloning, and expression of human plasma hyaluronidase". Biochem Biophys Res Commun. 236 (1): 10–5. doi:10.1006/bbrc.1997.6773. PMID 9223416.
  2. ↑ Csoka AB, Frost GI, Wong T, Stern R (Jan 1998). "Purification and microsequencing of hyaluronidase isozymes from human urine". FEBS Lett. 417 (3): 307–10. doi:10.1016/S0014-5793(97)01309-4. PMID 9409739.
  3. ↑ 3.0 3.1 "Entrez Gene: HYAL1 hyaluronoglucosaminidase 1".

Further reading



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