LOCUS       NM_001297436            2107 bp    mRNA    linear   PRI 01-JUL-2024
DEFINITION  Homo sapiens hyaluronan synthase 1 (HAS1), transcript variant 2,
            mRNA.
ACCESSION   NM_001297436 XM_005258834
VERSION     NM_001297436.2
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 2107)
  AUTHORS   Antikainen,A.A., Haukka,J.K., Kumar,A., Syreeni,A.,
            Hagg-Holmberg,S., Ylinen,A., Kilpelainen,E., Kytola,A., Palotie,A.,
            Putaala,J., Thorn,L.M., Harjutsalo,V., Groop,P.H. and Sandholm,N.
  CONSRTM   FinnDiane Study Group
  TITLE     Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1,
            and other genes and regulatory regions for stroke in type 1
            diabetes
  JOURNAL   Sci Rep 14 (1), 13453 (2024)
   PUBMED   38862513
  REMARK    GeneRIF: Whole-genome sequencing identifies variants in ANK1,
            LRRN1, HAS1, and other genes and regulatory regions for stroke in
            type 1 diabetes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2107)
  AUTHORS   Gruber,J.V., Holtz,R. and Riemer,J.
  TITLE     Hyaluronic acid (HA) stimulates the in vitro expression of CD44
            proteins but not HAS1 proteins in normal human epidermal
            keratinocytes (NHEKs) and is HA molecular weight dependent
  JOURNAL   J Cosmet Dermatol 21 (3), 1193-1198 (2022)
   PUBMED   33908161
  REMARK    GeneRIF: Hyaluronic acid (HA) stimulates the in vitro expression of
            CD44 proteins but not HAS1 proteins in normal human epidermal
            keratinocytes (NHEKs) and is HA molecular weight dependent.
REFERENCE   3  (bases 1 to 2107)
  AUTHORS   Kuroda,Y. and Higashi,H.
  TITLE     Regulation of hyaluronan production by beta2 adrenergic receptor
            signaling
  JOURNAL   Biochem Biophys Res Commun 575, 50-55 (2021)
   PUBMED   34455221
  REMARK    GeneRIF: Regulation of hyaluronan production by beta2 adrenergic
            receptor signaling.
REFERENCE   4  (bases 1 to 2107)
  AUTHORS   Koltai,T., Reshkin,S.J., Carvalho,T.M.A. and Cardone,R.A.
  TITLE     Targeting the Stromal Pro-Tumoral Hyaluronan-CD44 Pathway in
            Pancreatic Cancer
  JOURNAL   Int J Mol Sci 22 (8), 3953 (2021)
   PUBMED   33921242
  REMARK    GeneRIF: Targeting the Stromal Pro-Tumoral Hyaluronan-CD44 Pathway
            in Pancreatic Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2107)
  AUTHORS   Reiprich,S., Akova,E., Aszodi,A. and Schonitzer,V.
  TITLE     Hyaluronan Synthases' Expression and Activity Are Induced by Fluid
            Shear Stress in Bone Marrow-Derived Mesenchymal Stem Cells
  JOURNAL   Int J Mol Sci 22 (6), 3123 (2021)
   PUBMED   33803805
  REMARK    GeneRIF: Hyaluronan Synthases' Expression and Activity Are Induced
            by Fluid Shear Stress in Bone Marrow-Derived Mesenchymal Stem
            Cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2107)
  AUTHORS   Spicer,A.P. and Nguyen,T.K.
  TITLE     Mammalian hyaluronan synthases: investigation of functional
            relationships in vivo
  JOURNAL   Biochem Soc Trans 27 (2), 109-115 (1999)
   PUBMED   10093717
  REMARK    Review article
REFERENCE   7  (bases 1 to 2107)
  AUTHORS   Spicer,A.P., Seldin,M.F., Olsen,A.S., Brown,N., Wells,D.E.,
            Doggett,N.A., Itano,N., Kimata,K., Inazawa,J. and McDonald,J.A.
  TITLE     Chromosomal localization of the human and mouse hyaluronan synthase
            genes
  JOURNAL   Genomics 41 (3), 493-497 (1997)
   PUBMED   9169154
REFERENCE   8  (bases 1 to 2107)
  AUTHORS   Shyjan,A.M., Heldin,P., Butcher,E.C., Yoshino,T. and Briskin,M.J.
  TITLE     Functional cloning of the cDNA for a human hyaluronan synthase
  JOURNAL   J Biol Chem 271 (38), 23395-23399 (1996)
   PUBMED   8798544
REFERENCE   9  (bases 1 to 2107)
  AUTHORS   Itano,N. and Kimata,K.
  TITLE     Molecular cloning of human hyaluronan synthase
  JOURNAL   Biochem Biophys Res Commun 222 (3), 816-820 (1996)
   PUBMED   8651928
REFERENCE   10 (bases 1 to 2107)
  AUTHORS   Mian,N.
  TITLE     Analysis of cell-growth-phase-related variations in hyaluronate
            synthase activity of isolated plasma-membrane fractions of cultured
            human skin fibroblasts
  JOURNAL   Biochem J 237 (2), 333-342 (1986)
   PUBMED   3099751
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AM904814.1, BC035837.1 and
            BX371636.2.
            
            On Jun 2, 2019 this sequence version replaced NM_001297436.1.
            
            Summary: Hyaluronan or hyaluronic acid (HA) is a high molecular
            weight unbranched polysaccharide synthesized by a wide variety of
            organisms from bacteria to mammals, and is a constituent of the
            extracellular matrix. It consists of alternating glucuronic acid
            and N-acetylglucosamine residues that are linked by beta-1-3 and
            beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound
            synthase at the inner surface of the plasma membrane, and the
            chains are extruded through pore-like structures into the
            extracellular space. It serves a variety of functions, including
            space filling, lubrication of joints, and provision of a matrix
            through which cells can migrate. HA is actively produced during
            wound healing and tissue repair to provide a framework for ingrowth
            of blood vessels and fibroblasts. Changes in the serum
            concentration of HA are associated with inflammatory and
            degenerative arthropathies such as rheumatoid arthritis. In
            addition, the interaction of HA with the leukocyte receptor CD44 is
            important in tissue-specific homing by leukocytes, and
            overexpression of HA receptors has been correlated with tumor
            metastasis. HAS1 is a member of the newly identified vertebrate
            gene family encoding putative hyaluronan synthases, and its amino
            acid sequence shows significant homology to the hasA gene product
            of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42)
            from Xenopus laevis, and a recently described murine hyaluronan
            synthase. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. It
            encodes isoform 2, which is shorter by an amino acid, compared to
            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 :: BC035837.1, SRR14372079.1075844.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000540069.7/ ENSP00000445021.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AM904814.1         4-20
            18-94               BC035837.1         1-77
            95-95               AM904814.1         98-98
            96-663              BC035837.1         79-646
            664-743             BX371636.2         545-624             c
            744-2107            BC035837.1         727-2090
FEATURES             Location/Qualifiers
     source          1..2107
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..2107
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /note="hyaluronan synthase 1"
                     /db_xref="GeneID:3036"
                     /db_xref="HGNC:HGNC:4818"
                     /db_xref="MIM:601463"
     exon            1..67
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1792
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /EC_number="2.4.1.212"
                     /note="isoform 2 is encoded by transcript variant 2;
                     hyaluronate synthase 1; HA synthase 1; hyaluronic acid
                     synthase 1"
                     /codon_start=1
                     /product="hyaluronan synthase 1 isoform 2"
                     /protein_id="NP_001284365.1"
                     /db_xref="CCDS:CCDS74436.1"
                     /db_xref="GeneID:3036"
                     /db_xref="HGNC:HGNC:4818"
                     /db_xref="MIM:601463"
                     /translation="MRQDAPKPTPAACRCSGLARRVLTIAFALLILGLMTWAYAAGVP
                     LASDRYGLLAFGLYGAFLSAHLVAQSLFAYLEHRRVAAAARGPLDAATARSVALTISA
                     YQEDPAYLRQCLASARALLYPRARLRVLMVVDGNRAEDLYMVDMFREVFADEDPATYV
                     WDGNYHQPWEPAAAGAVGAGAYREVEAEDPGRLAVEALVRTRRCVCVAQRWGGKREVM
                     YTAFKALGDSVDYVQVCDSDTRLDPMALLELVRVLDEDPRVGAVGGDVRILNPLDSWV
                     SFLSSLRYWVAFNVERACQSYFHCVSCISGPLGLYRNNLLQQFLEAWYNQKFLGTHCT
                     FGDDRHLTNRMLSMGYATKYTSRSRCYSETPSSFLRWLSQQTRWSKSYFREWLYNALW
                     WHRHHAWMTYEAVVSGLFPFFVAATVLRLFYAGRPWALLWVLLCVQGVALAKAAFAAW
                     LRGCLRMVLLSLYAPLYMCGLLPAKFLALVTMNQSGWGTSGRRKLAANYVPLLPLALW
                     ALLLLGGLVRSVAHEARADWSGPSRAAEAYHLAAGAGAYVGYWVAMLTLYWVGVRRLC
                     RRRTGGYRVQV"
     exon            68..757
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /inference="alignment:Splign:2.1.0"
     exon            758..983
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1116
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..2107
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2085..2090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /note="hexamer: AATAAA"
     polyA_site      2107
                     /gene="HAS1"
                     /gene_synonym="HAS"
                     /note="major polyA site"
ORIGIN      
        1 acagagaggc tgggagagca agccggagag aagagagagc ccggccagac ccactgcgat
       61 gagacaggac gcgcccaagc ccactcctgc agcctgccgc tgctccggcc tggcccggag
      121 ggtgctgacc atcgccttcg ccctgctcat cctgggcctc atgacctggg cctacgccgc
      181 cggggtgccg ctggcctccg atcgctacgg cctcctggcc ttcggcctct acggggcctt
      241 cctttcagcg cacctggtgg cgcagagcct cttcgcgtac ctggagcacc ggcgggtggc
      301 ggcggcggcg cgggggccgc tggatgcagc caccgcgcgc agtgtggcgc tgaccatctc
      361 cgcctaccag gaggaccccg cgtacctgcg ccagtgcctg gcgtccgccc gcgccctgct
      421 gtacccgcgc gcgcggctgc gcgtcctcat ggtggtggat ggcaaccgcg ccgaggacct
      481 ctacatggtc gacatgttcc gcgaggtctt cgctgacgag gaccccgcca cgtacgtgtg
      541 ggacggcaac taccaccagc cctgggaacc cgcggcggcg ggcgcggtgg gcgccggagc
      601 ctatcgggag gtggaggcgg aggatcctgg gcggctggca gtggaggcgc tggtgaggac
      661 tcgcaggtgc gtgtgcgtgg cgcagcgctg gggcggcaag cgcgaggtca tgtacacagc
      721 cttcaaggcg ctcggagatt cggtggacta cgtgcaggtc tgtgactcgg acacaaggtt
      781 ggaccccatg gcactgctgg agctcgtgcg ggtactggac gaggaccccc gggtaggggc
      841 tgttggtggg gacgtgcgga tccttaaccc tctggactcc tgggtcagct tcctaagcag
      901 cctgcgatac tgggtagcct tcaatgtgga gcgggcttgt cagagctact tccactgtgt
      961 atcctgcatc agcggtcctc taggcctata taggaataac ctcttgcagc agtttcttga
     1021 ggcctggtac aaccagaagt tcctgggtac ccactgtact tttggggatg accggcacct
     1081 caccaaccgc atgctcagca tgggttatgc taccaagtac acctccaggt cccgctgcta
     1141 ctcagagacg ccctcgtcct tcctgcggtg gctgagccag cagacacgct ggtccaagtc
     1201 gtacttccgt gagtggctgt acaacgcgct ctggtggcac cggcaccatg cgtggatgac
     1261 ctacgaggcg gtggtctccg gcctgttccc cttcttcgtg gcggccactg tgctgcgtct
     1321 gttctacgcg ggccgccctt gggcgctgct gtgggtgctg ctgtgcgtgc agggcgtggc
     1381 actggccaag gcggccttcg cggcctggct gcggggctgc ctgcgcatgg tgcttctgtc
     1441 gctctacgcg cccctctaca tgtgtggcct cctgcctgcc aagttcctgg cgctagtcac
     1501 catgaaccag agtggctggg gcacctcggg ccggcggaag ctggccgcta actacgtccc
     1561 tctgctgccc ctggcgctct gggcgctgct gctgcttggg ggcctggtcc gcagcgtagc
     1621 acacgaggcc agggccgact ggagcggccc ttcccgcgca gccgaggcct accacttggc
     1681 cgcgggggcc ggcgcctacg tgggctactg ggtggccatg ttgacgctgt actgggtggg
     1741 cgtgcggagg ctttgccggc ggcggaccgg gggctaccgc gtccaggtgt gagtccagcc
     1801 acgcggatgc cgcctcaagg gtcttcaggg gaggccagag gagagctgct gggccccgag
     1861 ccacgaactt gctgggtggt tctctgggcc tcagtttccc tcctctgcaa aacgaggggg
     1921 tcagcccaag attcttcagt ctggactata ttgggactgg gacttctggg tctccaggga
     1981 gggtatttat tggtcagggt gtgggatctg aggagtggag ggaaagggtc ctgctttctc
     2041 ctcgttctta tttaatctcc atttctactg tgtgatcagg atgtaataaa gaattttatt
     2101 tattttc
//
