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Q92819

- HYAS2_HUMAN

UniProt

Q92819 - HYAS2_HUMAN

Protein

Hyaluronan synthase 2

Gene

HAS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    Functioni

    Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. May also play a role in vasculogenesis. High molecular mass hyaluronan also play a role in early contact inhibition a process which stops cell growth when cells come into contact with each other or the extracellular matrix By similarity.By similarity

    Catalytic activityi

    UDP-alpha-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan) = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan).
    UDP-alpha-D-glucuronate + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan) = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan).

    Cofactori

    Magnesium.

    Pathwayi

    GO - Molecular functioni

    1. hyaluronan synthase activity Source: UniProtKB

    GO - Biological processi

    1. atrioventricular canal development Source: UniProtKB
    2. bone morphogenesis Source: Ensembl
    3. cellular response to fluid shear stress Source: BHF-UCL
    4. cellular response to interleukin-1 Source: BHF-UCL
    5. cellular response to platelet-derived growth factor stimulus Source: UniProtKB
    6. cellular response to tumor necrosis factor Source: BHF-UCL
    7. endocardial cushion to mesenchymal transition Source: UniProtKB
    8. extracellular matrix assembly Source: UniProtKB
    9. extracellular polysaccharide biosynthetic process Source: UniProtKB
    10. hyaluronan biosynthetic process Source: UniProtKB
    11. kidney development Source: UniProtKB
    12. positive regulation of cell migration Source: BHF-UCL
    13. positive regulation of cell proliferation Source: BHF-UCL
    14. positive regulation of monocyte aggregation Source: BHF-UCL
    15. positive regulation of urine volume Source: UniProtKB
    16. renal water absorption Source: UniProtKB
    17. vasculogenesis Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BRENDAi2.4.1.212. 2681.
    ReactomeiREACT_121301. Hyaluronan biosynthesis and export.
    UniPathwayiUPA00341.

    Protein family/group databases

    CAZyiGT2. Glycosyltransferase Family 2.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hyaluronan synthase 2 (EC:2.4.1.212)
    Alternative name(s):
    Hyaluronate synthase 2
    Hyaluronic acid synthase 2
    Short name:
    HA synthase 2
    Gene namesi
    Name:HAS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:4819. HAS2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving HAS2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. 8q12.1 to 8q24.1 intrachromosomal rearrangement with PLAG1.

    Organism-specific databases

    PharmGKBiPA29195.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 552552Hyaluronan synthase 2PRO_0000197173Add
    BLAST

    Proteomic databases

    PaxDbiQ92819.
    PRIDEiQ92819.

    PTM databases

    PhosphoSiteiQ92819.

    Expressioni

    Tissue specificityi

    Expressed in fibroblasts.

    Gene expression databases

    BgeeiQ92819.
    CleanExiHS_HAS2.
    GenevestigatoriQ92819.

    Interactioni

    Protein-protein interaction databases

    BioGridi109287. 3 interactions.
    STRINGi9606.ENSP00000306991.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92819.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1111CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini33 – 4513ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini67 – 374308CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini396 – 4027ExtracellularSequence Analysis
    Topological domaini424 – 4296CytoplasmicSequence Analysis
    Topological domaini451 – 47525ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini497 – 51014CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini532 – 55221ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei12 – 3221Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei46 – 6621Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei375 – 39521Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei403 – 42321Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei430 – 45021Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei476 – 49621Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei511 – 53121Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NodC/HAS family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1215.
    HOGENOMiHOG000112847.
    HOVERGENiHBG000189.
    InParanoidiQ92819.
    KOiK00752.
    OMAiHYDMVLD.
    OrthoDBiEOG77WWBZ.
    PhylomeDBiQ92819.
    TreeFamiTF332506.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR026107. HAS/NodC.
    IPR028371. HAS2.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR22913. PTHR22913. 1 hit.
    PTHR22913:SF7. PTHR22913:SF7. 1 hit.
    SUPFAMiSSF53448. SSF53448. 2 hits.

    Sequencei

    Sequence statusi: Complete.

    Q92819-1 [UniParc]FASTAAdd to Basket

    « Hide

    MHCERFLCIL RIIGTTLFGV SLLLGITAAY IVGYQFIQTD NYYFSFGLYG    50
    AFLASHLIIQ SLFAFLEHRK MKKSLETPIK LNKTVALCIA AYQEDPDYLR 100
    KCLQSVKRLT YPGIKVVMVI DGNSEDDLYM MDIFSEVMGR DKSATYIWKN 150
    NFHEKGPGET DESHKESSQH VTQLVLSNKS ICIMQKWGGK REVMYTAFRA 200
    LGRSVDYVQV CDSDTMLDPA SSVEMVKVLE EDPMVGGVGG DVQILNKYDS 250
    WISFLSSVRY WMAFNIERAC QSYFGCVQCI SGPLGMYRNS LLHEFVEDWY 300
    NQEFMGNQCS FGDDRHLTNR VLSLGYATKY TARSKCLTET PIEYLRWLNQ 350
    QTRWSKSYFR EWLYNAMWFH KHHLWMTYEA IITGFFPFFL IATVIQLFYR 400
    GKIWNILLFL LTVQLVGLIK SSFASCLRGN IVMVFMSLYS VLYMSSLLPA 450
    KMFAIATINK AGWGTSGRKT IVVNFIGLIP VSVWFTILLG GVIFTIYKES 500
    KRPFSESKQT VLIVGTLLYA CYWVMLLTLY VVLINKCGRR KKGQQYDMVL 550
    DV 552
    Length:552
    Mass (Da):63,566
    Last modified:February 1, 1997 - v1
    Checksum:iEEEF58D97B131F9D
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U54804 mRNA. Translation: AAC50692.1.
    BC069353 mRNA. Translation: AAH69353.1.
    BC109071 mRNA. Translation: AAI09072.1.
    BC109072 mRNA. Translation: AAI09073.1.
    CCDSiCCDS6335.1.
    RefSeqiNP_005319.1. NM_005328.2.
    UniGeneiHs.159226.

    Genome annotation databases

    EnsembliENST00000303924; ENSP00000306991; ENSG00000170961.
    GeneIDi3037.
    KEGGihsa:3037.
    UCSCiuc003yph.2. human.

    Polymorphism databases

    DMDMi7387737.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database"

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U54804 mRNA. Translation: AAC50692.1 .
    BC069353 mRNA. Translation: AAH69353.1 .
    BC109071 mRNA. Translation: AAI09072.1 .
    BC109072 mRNA. Translation: AAI09073.1 .
    CCDSi CCDS6335.1.
    RefSeqi NP_005319.1. NM_005328.2.
    UniGenei Hs.159226.

    3D structure databases

    ProteinModelPortali Q92819.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109287. 3 interactions.
    STRINGi 9606.ENSP00000306991.

    Protein family/group databases

    CAZyi GT2. Glycosyltransferase Family 2.

    PTM databases

    PhosphoSitei Q92819.

    Polymorphism databases

    DMDMi 7387737.

    Proteomic databases

    PaxDbi Q92819.
    PRIDEi Q92819.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303924 ; ENSP00000306991 ; ENSG00000170961 .
    GeneIDi 3037.
    KEGGi hsa:3037.
    UCSCi uc003yph.2. human.

    Organism-specific databases

    CTDi 3037.
    GeneCardsi GC08M122624.
    HGNCi HGNC:4819. HAS2.
    MIMi 601636. gene.
    neXtProti NX_Q92819.
    PharmGKBi PA29195.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1215.
    HOGENOMi HOG000112847.
    HOVERGENi HBG000189.
    InParanoidi Q92819.
    KOi K00752.
    OMAi HYDMVLD.
    OrthoDBi EOG77WWBZ.
    PhylomeDBi Q92819.
    TreeFami TF332506.

    Enzyme and pathway databases

    UniPathwayi UPA00341 .
    BRENDAi 2.4.1.212. 2681.
    Reactomei REACT_121301. Hyaluronan biosynthesis and export.

    Miscellaneous databases

    ChiTaRSi HAS2. human.
    GeneWikii HAS2.
    GenomeRNAii 3037.
    NextBioi 12022.
    PROi Q92819.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q92819.
    CleanExi HS_HAS2.
    Genevestigatori Q92819.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR026107. HAS/NodC.
    IPR028371. HAS2.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR22913. PTHR22913. 1 hit.
    PTHR22913:SF7. PTHR22913:SF7. 1 hit.
    SUPFAMi SSF53448. SSF53448. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular identification of a putative human hyaluronan synthase."
      Watanabe K., Yamaguchi Y.
      J. Biol. Chem. 271:22945-22948(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "PLAG1-HAS2 fusion in lipoblastoma with masked 8q intrachromosomal rearrangement."
      Morerio C., Rapella A., Rosanda C., Tassano E., Gambini C., Romagnoli G., Panarello C.
      Cancer Genet. Cytogenet. 156:183-184(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL REARRANGEMENT WITH PLAG1.

    Entry informationi

    Entry nameiHYAS2_HUMAN
    AccessioniPrimary (citable) accession number: Q92819
    Secondary accession number(s): Q32MM3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: February 1, 1997
    Last modified: October 1, 2014
    This is version 116 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3