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    HAS3 hyaluronan synthase 3 [ Homo sapiens (human) ]

    Gene ID: 3038, updated on 14-Nov-2024

    Summary

    Official Symbol
    HAS3provided by HGNC
    Official Full Name
    hyaluronan synthase 3provided by HGNC
    Primary source
    HGNC:HGNC:4820
    See related
    Ensembl:ENSG00000103044 MIM:602428; AllianceGenome:HGNC:4820
    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
    Summary
    The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in urinary bladder (RPKM 19.2), lung (RPKM 12.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HAS3 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (69083484..69118719)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (74879801..74915029)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69139556..69152622)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transport and golgi organization 6 homolog Neighboring gene deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial-like Neighboring gene ribosomal protein S2 pseudogene 45 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:69096798-69097616 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:69105561-69106280 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:69106281-69106998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69106999-69107717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69107718-69108435 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69111819-69112338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69122977-69123854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69131715-69132540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:69133965-69134466 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:69139221-69139769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69143266-69144235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7653 Neighboring gene chromosome transmission fidelity factor 8 Neighboring gene DERPC proline and glycine rich nuclear protein Neighboring gene Sharpr-MPRA regulatory region 12307 Neighboring gene UTP4 small subunit processome component Neighboring gene RNA, U6 small nuclear 22, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hyaluronan synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hyaluronan synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hyaluronan synthase activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in extracellular matrix assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in extracellular matrix assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hyaluronan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hyaluronan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hyaluronan biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hyaluronan biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in polysaccharide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in polysaccharide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of hyaluranon cable assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in hyaluranon cable IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    hyaluronan synthase 3
    Names
    HA synthase 3
    hyaluronate synthase 3
    hyaluronic acid synthase 3
    NP_001186209.1
    NP_005320.2
    NP_619515.1
    XP_005255978.1
    XP_011521363.1
    XP_047290001.1
    XP_047290002.1
    XP_047290003.1
    XP_054236175.1
    XP_054236176.1
    XP_054236177.1
    XP_054236178.1
    XP_054236179.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_047056.2 RefSeqGene

      Range
      27171..39178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199280.2NP_001186209.1  hyaluronan synthase 3 isoform a

      See identical proteins and their annotated locations for NP_001186209.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Both variants 1 and 3 encode the same protein (isoform a).
      Source sequence(s)
      AC009027, AK291400
      Consensus CDS
      CCDS10871.1
      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
      UniProtKB/TrEMBL
      Q96RV2
      Related
      ENSP00000454731.1, ENST00000569188.6
      Conserved Domains (1) summary
      cd06434
      Location:86364
      GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
    2. NM_005329.3NP_005320.2  hyaluronan synthase 3 isoform a

      See identical proteins and their annotated locations for NP_005320.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains a different 5' exon as compared to variant 3. Both variants 1 and 3 encode the same protein (isoform a).
      Source sequence(s)
      AC009027, AF234839
      Consensus CDS
      CCDS10871.1
      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
      UniProtKB/TrEMBL
      Q96RV2
      Related
      ENSP00000304440.1, ENST00000306560.1
      Conserved Domains (1) summary
      cd06434
      Location:86364
      GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
    3. NM_138612.3NP_619515.1  hyaluronan synthase 3 isoform b

      See identical proteins and their annotated locations for NP_619515.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a different 5' and 3' exon as compared to variant 3. As a result, variant 2 encodes isoform b, which has the same N-terminus but is shorter and has a different C-terminus than isoform a encoded by variant 3.
      Source sequence(s)
      AC009027, BC021853
      Consensus CDS
      CCDS10870.1
      UniProtKB/TrEMBL
      H3BRH5
      Related
      ENSP00000219322.3, ENST00000219322.7
      Conserved Domains (1) summary
      cl11394
      Location:86247
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      69083484..69118719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434047.1XP_047290003.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
    2. XM_047434046.1XP_047290002.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
    3. XM_047434045.1XP_047290001.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
    4. XM_011523061.3XP_011521363.1  hyaluronan synthase 3 isoform X1

      See identical proteins and their annotated locations for XP_011521363.1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
      UniProtKB/TrEMBL
      Q96RV2
      Conserved Domains (1) summary
      cd06434
      Location:86364
      GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
    5. XM_005255921.3XP_005255978.1  hyaluronan synthase 3 isoform X1

      See identical proteins and their annotated locations for XP_005255978.1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
      UniProtKB/TrEMBL
      Q96RV2
      Conserved Domains (1) summary
      cd06434
      Location:86364
      GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      74879801..74915029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380204.1XP_054236179.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
    2. XM_054380203.1XP_054236178.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
    3. XM_054380202.1XP_054236177.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
    4. XM_054380200.1XP_054236175.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0
    5. XM_054380201.1XP_054236176.1  hyaluronan synthase 3 isoform X1

      UniProtKB/Swiss-Prot
      A8K5T5, O00219, Q8WTZ0, Q9NYP0