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    HAS1 hyaluronan synthase 1 [ Homo sapiens (human) ]

    Gene ID: 3036, updated on 4-Feb-2018
    Official Symbol
    HAS1provided by HGNC
    Official Full Name
    hyaluronan synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:4818
    See related
    Ensembl:ENSG00000105509 MIM:601463; Vega:OTTHUMG00000183499
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HAS
    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]
    Expression
    Broad expression in appendix (RPKM 1.7), ovary (RPKM 1.2) and 14 other tissues See more
    Orthologs
    Location:
    19q13.41
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (51713112..51723992, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52216365..52227239, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SPACA6P antisense RNA Neighboring gene sperm acrosome associated 6 Neighboring gene microRNA let-7e Neighboring gene microRNA 125a Neighboring gene formyl peptide receptor 1 Neighboring gene formyl peptide receptor 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of hyaluronan synthase 1 (HAS1) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
    • Hyaluronan biosynthesis and export, organism-specific biosystem (from REACTOME)
      Hyaluronan biosynthesis and export, organism-specific biosystemHyaluronan (hyaluronic acid, HA) is composed of repeating disaccharide units of glucuronic acid and N-acetylglucosamine [-4GlcAb1-3GlcNAcb1-]. It is synthesized in the cell membrane by adding monosac...
    • Hyaluronan metabolism, organism-specific biosystem (from REACTOME)
      Hyaluronan metabolism, organism-specific biosystemHyaluronan (hyaluronic acid, hyaluronate or HA) is an anionic glycosaminoglycan (GAG) distributed widely throughout connective, epithelial, and neural tissues and most abundant in the extracellular m...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hyaluronan synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    hyaluronan synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hyaluronan synthase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to platelet-derived growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    estrous cycle IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular matrix assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular polysaccharide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular polysaccharide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glycosaminoglycan biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    hyaluronan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    hyaluronan biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    hyaluronan biosynthetic process TAS
    Traceable Author Statement
    more info
     
    negative regulation of fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    hyaluronan synthase 1
    Names
    HA synthase 1
    hyaluronate synthase 1
    hyaluronic acid synthase 1
    NP_001284365.1
    NP_001514.2
    XP_011525186.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001297436.1NP_001284365.1  hyaluronan synthase 1 isoform 2

      See identical proteins and their annotated locations for NP_001284365.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AM904814, BC035837, BX371636
      Consensus CDS
      CCDS74436.1
      UniProtKB/TrEMBL
      D2N2G5, G3V1S7, Q8IYH3
      Related
      ENSP00000445021.1, OTTHUMP00000271846, ENST00000540069.6, OTTHUMT00000466902
      Conserved Domains (2) summary
      TIGR04242
      Location:51487
      nodulat_NodC; chitooligosaccharide synthase NodC
      cl11394
      Location:95385
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    2. NM_001523.3NP_001514.2  hyaluronan synthase 1 isoform 1

      See identical proteins and their annotated locations for NP_001514.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AM904814, BC035837, U59269
      Consensus CDS
      CCDS12838.1
      UniProtKB/Swiss-Prot
      Q92839
      UniProtKB/TrEMBL
      D2N2G5, Q8IYH3
      Related
      ENSP00000222115.1, OTTHUMP00000271875, ENST00000222115.5, OTTHUMT00000466953
      Conserved Domains (2) summary
      TIGR04242
      Location:52488
      nodulat_NodC; chitooligosaccharide synthase NodC
      cl11394
      Location:96386
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      51713112..51723992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526884.2XP_011525186.1  hyaluronan synthase 1 isoform X1

      Conserved Domains (1) summary
      cl11394
      Location:96310
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      52218163..52229071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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