LOCUS       NM_033159               2031 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens hyaluronidase 1 (HYAL1), transcript variant 7, mRNA.
ACCESSION   NM_033159
VERSION     NM_033159.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2031)
  AUTHORS   Nguyen,T.A., Hoang,T., Nguyen,T.T., Jeong,C., Tran,T.V., Choi,M.G.
            and Lee,C.
  TITLE     Substitution of acidic residues near the catalytic Glu131 leads to
            human HYAL1 activity at neutral pH via charge-charge interactions
  JOURNAL   PLoS One 19 (8), e0308370 (2024)
   PUBMED   39121049
  REMARK    GeneRIF: Substitution of acidic residues near the catalytic Glu131
            leads to human HYAL1 activity at neutral pH via charge-charge
            interactions.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2031)
  AUTHORS   Abe,M., Masuda,M., Mizukami,Y., Inoue,S. and Mizutani,Y.
  TITLE     Epidermal keratinocytes regulate hyaluronan metabolism via
            extracellularly secreted hyaluronidase 1 and hyaluronan synthase 3
  JOURNAL   J Biol Chem 300 (7), 107449 (2024)
   PUBMED   38844132
  REMARK    GeneRIF: Epidermal keratinocytes regulate hyaluronan metabolism via
            extracellularly secreted hyaluronidase 1 and hyaluronan synthase 3.
REFERENCE   3  (bases 1 to 2031)
  AUTHORS   Yuan,J., Hou,B., Guo,K., Zhu,J. and Xiao,H.
  TITLE     Tumor-derived exosomal hyaluronidase 1 induced M2 macrophage
            polarization and promoted esophageal cancer progression
  JOURNAL   Exp Cell Res 439 (1), 113963 (2024)
   PUBMED   38382806
  REMARK    GeneRIF: Tumor-derived exosomal hyaluronidase 1 induced M2
            macrophage polarization and promoted esophageal cancer progression.
REFERENCE   4  (bases 1 to 2031)
  AUTHORS   Wu,K.X., Yeo,N.J.Y., Ng,C.Y., Chioh,F.W.J., Fan,Q., Tian,X.,
            Yang,B., Narayanan,G., Tay,H.M., Hou,H.W., Dunn,N.R., Su,X.,
            Cheung,C.M.G. and Cheung,C.
  TITLE     Hyaluronidase-1-mediated glycocalyx impairment underlies
            endothelial abnormalities in polypoidal choroidal vasculopathy
  JOURNAL   BMC Biol 20 (1), 47 (2022)
   PUBMED   35164755
  REMARK    GeneRIF: Hyaluronidase-1-mediated glycocalyx impairment underlies
            endothelial abnormalities in polypoidal choroidal vasculopathy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2031)
  AUTHORS   Liu,J., Deng,Y., Wang,Z., Mo,B., Wei,J., Cheng,Z., Peng,Q., Wei,G.,
            Li,J., Shu,Y., Yang,H., Fang,S., Luo,G., Yang,S., Wang,Y., Zhu,J.,
            Yang,J., Wu,M., Xu,X., Ge,R., Zhang,X., Xiong,W., Wang,X. and Li,Z.
  TITLE     A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase
            1 (HYAL1) is associated with increased risk of idiopathic pulmonary
            fibrosis in Southern Han Chinese
  JOURNAL   J Clin Lab Anal 35 (6), e23782 (2021)
   PUBMED   33942374
  REMARK    GeneRIF: A nonsynonymous polymorphism (rs117179004, T392M) of
            hyaluronidase 1 (HYAL1) is associated with increased risk of
            idiopathic pulmonary fibrosis in Southern Han Chinese.
REFERENCE   6  (bases 1 to 2031)
  AUTHORS   Csoka,A.B., Frost,G.I., Heng,H.H., Scherer,S.W., Mohapatra,G. and
            Stern,R.
  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 48 (1), 63-70 (1998)
   PUBMED   9503017
  REMARK    Erratum:[Genomics. 2004 Jul;84(1):227.. Csoka, T B [corrected to
            Csoka, A B]]
REFERENCE   7  (bases 1 to 2031)
  AUTHORS   Csoka,A.B., Frost,G.I., Wong,T. and Stern,R.
  TITLE     Purification and microsequencing of hyaluronidase isozymes from
            human urine
  JOURNAL   FEBS Lett 417 (3), 307-310 (1997)
   PUBMED   9409739
  REMARK    Erratum:[FEBS Lett. 2004 May 21;566(1-3):316.. Csoka, T B
            [corrected to Csoka, A B]]
REFERENCE   8  (bases 1 to 2031)
  AUTHORS   Frost,G.I., Csoka,A.B., Wong,T. and Stern,R.
  TITLE     Purification, cloning, and expression of human plasma hyaluronidase
  JOURNAL   Biochem Biophys Res Commun 236 (1), 10-15 (1997)
   PUBMED   9223416
  REMARK    Erratum:[Biochem Biophys Res Commun. 2004 Jun 25;319(2):705..
            Csoka, T B [corrected to Csoka, A B]]
REFERENCE   9  (bases 1 to 2031)
  AUTHORS   Natowicz,M.R., Short,M.P., Wang,Y., Dickersin,G.R., Gebhardt,M.C.,
            Rosenthal,D.I., Sims,K.B. and Rosenberg,A.E.
  TITLE     Clinical and biochemical manifestations of hyaluronidase deficiency
  JOURNAL   N Engl J Med 335 (14), 1029-1033 (1996)
   PUBMED   8793927
REFERENCE   10 (bases 1 to 2031)
  AUTHORS   Wei,M.H., Latif,F., Bader,S., Kashuba,V., Chen,J.Y., Duh,F.M.,
            Sekido,Y., Lee,C.C., Geil,L., Kuzmin,I., Zabarovsky,E., Klein,G.,
            Zbar,B., Minna,J.D. and Lerman,M.I.
  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 56 (7), 1487-1492 (1996)
   PUBMED   8603390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA566755.1 and BC035695.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_033159.3.
            
            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].
            
            Transcript Variant: This variant (7) differs in the 5' UTR compared
            to variant 8. Variants 7 and 8 both encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279868.2439.1, AF173154.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395144.7/ ENSP00000378576.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DA566755.1         30-48
            20-2031             BC035695.1         1-2012
FEATURES             Location/Qualifiers
     source          1..2031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..2031
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /note="hyaluronidase 1"
                     /db_xref="GeneID:3373"
                     /db_xref="HGNC:HGNC:5320"
                     /db_xref="MIM:607071"
     exon            1..109
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /inference="alignment:Splign:2.1.0"
     exon            110..1033
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..1441
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /EC_number="3.2.1.35"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 7; plasma hyaluronidase; tumor suppressor LUCA-1;
                     luCa-1; lung carcinoma protein 1; hyaluronoglucosaminidase
                     1"
                     /codon_start=1
                     /product="hyaluronidase-1 isoform 1 precursor"
                     /protein_id="NP_149349.2"
                     /db_xref="CCDS:CCDS2816.1"
                     /db_xref="GeneID:3373"
                     /db_xref="HGNC:HGNC:5320"
                     /db_xref="MIM:607071"
                     /translation="MAAHLLPICALFLTLLDMAQGFRGPLLPNRPFTTVWNANTQWCL
                     ERHGVDVDVSVFDVVANPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASL
                     IAHLARTFQDILAAIPAPDFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHP
                     DWPAPQVEAVAQDQFQGAARAWMAGTLQLGRALRPRGLWGFYGFPDCYNYDFLSPNYT
                     GQCPSGIRAQNDQLGWLWGQSRALYPSIYMPAVLEGTGKSQMYVQHRVAEAFRVAVAA
                     GDPNLPVLPYVQIFYDTTNHFLPLDELEHSLGESAAQGAAGVVLWVSWENTRTKESCQ
                     AIKEYMDTTLGPFILNVTSGALLCSQALCSGHGRCVRRTSHPKALLLLNPASFSIQLT
                     PGGGPLSLRGALSLEDQAQMAVEFKCRCYPGWQAPWCERKSMW"
     exon            1034..1123
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..2031
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2012..2017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /note="hexamer: AATAAA"
     polyA_site      2031
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /note="major polyA site"
ORIGIN      
        1 ccttcctcca ggagtctctg gtgcagctgg ggtggaatct ggccaggccc tgcttaggcc
       61 cccatcctgg ggtcaggaaa tttggaggat aaggcccttc agccccaagg ttgtcctcga
      121 ccagtcccgt gccatggcag cccacctgct tcccatctgc gccctcttcc tgaccttact
      181 cgatatggcc caaggcttta ggggcccctt gctacccaac cggcccttca ccaccgtctg
      241 gaatgcaaac acccagtggt gcctggagag gcacggtgtg gacgtggatg tcagtgtctt
      301 cgatgtggta gccaacccag ggcagacctt ccgcggccct gacatgacaa ttttctatag
      361 ctcccagctg ggcacctacc cctactacac gcccactggg gagcctgtgt ttggtggtct
      421 gccccagaat gccagcctga ttgcccacct ggcccgcaca ttccaggaca tcctggctgc
      481 catacctgct cctgacttct cagggctggc agtcatcgac tgggaggcat ggcgcccacg
      541 ctgggccttc aactgggaca ccaaggacat ttaccggcag cgctcacggg cactggtaca
      601 ggcacagcac cctgattggc cagctcctca ggtggaggca gtagcccagg accagttcca
      661 gggagctgca cgggcctgga tggcaggcac cctccagctg gggcgggcac tgcgtcctcg
      721 cggcctctgg ggcttctatg gcttccctga ctgctacaac tatgactttc taagccccaa
      781 ctacaccggc cagtgcccat caggcatccg tgcccaaaat gaccagctag ggtggctgtg
      841 gggccagagc cgtgccctct atcccagcat ctacatgccc gcagtgctgg agggcacagg
      901 gaagtcacag atgtatgtgc aacaccgtgt ggccgaggca ttccgtgtgg ctgtggctgc
      961 tggtgacccc aatctgccgg tgctgcccta tgtccagatc ttctatgaca cgacaaacca
     1021 ctttctgccc ctggatgagc tggagcacag cctgggggag agtgcggccc agggggcagc
     1081 tggagtggtg ctctgggtga gctgggaaaa tacaagaacc aaggaatcat gtcaggccat
     1141 caaggagtat atggacacta cactggggcc cttcatcctg aacgtgacca gtggggccct
     1201 tctctgcagt caagccctgt gctccggcca tggccgctgt gtccgccgca ccagccaccc
     1261 caaagccctc ctcctcctta accctgccag tttctccatc cagctcacgc ctggtggtgg
     1321 gcccctgagc ctgcggggtg ccctctcact tgaagatcag gcacagatgg ctgtggagtt
     1381 caaatgtcga tgctaccctg gctggcaggc accgtggtgt gagcggaaga gcatgtggtg
     1441 attggccaca cactgagttg cacatattga gaacctaatg cactctgggt ctggccaggg
     1501 cttcctcaaa tacatgcaca gtcatacaag tcatggtcac agtaaagagt acactcagcc
     1561 actgtcacag gcatattccc tgcacacaca tgcatactta cagactggaa tagtggcata
     1621 aggagttaga accacagcag acaccattca ttccatgtcc atatgcatct acttggcaag
     1681 gtcatagaca attcctccag agacactgag ccagtctttg aactgcagca atcacaaagg
     1741 ctgacattca ctgagtgcct actctttgcc aatccccgtg ctaagcgttt tatgtggact
     1801 tattcattcc tcacaatgag gctatgagga aactgagtca ctcacattga gagtaagcac
     1861 gttgcccaag gttgcacagc aagaaaaggg agaagttgag attcaaaccc aggctgtcta
     1921 gctccggggg tacagccctt gcactcctac tgagtttgtg gtaaccagcc ctgcacgacc
     1981 cctgaatctg ctgagaggca ccagtccagc aaataaagca gtcatgattt a
//
