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Q92819 (HYAS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:HAS2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length552 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Catalytic activity

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).

Cofactor

Magnesium.

Pathway

Glycan biosynthesis; hyaluronan biosynthesis.

Subcellular location

Membrane; Multi-pass membrane protein Probable.

Tissue specificity

Expressed in fibroblasts.

Involvement in disease

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.

Sequence similarities

Belongs to the NodC/HAS family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityChromosomal rearrangement
   DomainTransmembrane
Transmembrane helix
   Molecular functionGlycosyltransferase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processatrioventricular canal development

Inferred from sequence or structural similarity. Source: UniProtKB

bone morphogenesis

Inferred from electronic annotation. Source: Ensembl

cellular response to fluid shear stress

Inferred from expression pattern PubMed 21551265. Source: BHF-UCL

cellular response to interleukin-1

Inferred from expression pattern PubMed 20522558. Source: BHF-UCL

cellular response to platelet-derived growth factor stimulus

Inferred from direct assay PubMed 17324121. Source: UniProtKB

cellular response to tumor necrosis factor

Inferred from expression pattern PubMed 20522558. Source: BHF-UCL

endocardial cushion to mesenchymal transition

Inferred from sequence or structural similarity. Source: UniProtKB

extracellular matrix assembly

Inferred from sequence or structural similarity. Source: UniProtKB

extracellular polysaccharide biosynthetic process

Inferred from sequence or structural similarity. Source: UniProtKB

hyaluronan biosynthetic process

Inferred from direct assay PubMed 17324121. Source: UniProtKB

kidney development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of cell migration

Inferred from mutant phenotype PubMed 22016393. Source: BHF-UCL

positive regulation of cell proliferation

Inferred from mutant phenotype PubMed 22016393. Source: BHF-UCL

positive regulation of monocyte aggregation

Inferred from mutant phenotype PubMed 20522558. Source: BHF-UCL

positive regulation of urine volume

Inferred from sequence or structural similarity. Source: UniProtKB

renal water absorption

Inferred from sequence or structural similarity. Source: UniProtKB

vasculogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentintegral component of plasma membrane

Inferred from direct assay PubMed 20522558. Source: BHF-UCL

   Molecular_functionhyaluronan synthase activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 552552Hyaluronan synthase 2
PRO_0000197173

Regions

Topological domain1 – 1111Cytoplasmic Potential
Transmembrane12 – 3221Helical; Name=1; Potential
Topological domain33 – 4513Extracellular Potential
Transmembrane46 – 6621Helical; Name=2; Potential
Topological domain67 – 374308Cytoplasmic Potential
Transmembrane375 – 39521Helical; Name=3; Potential
Topological domain396 – 4027Extracellular Potential
Transmembrane403 – 42321Helical; Name=4; Potential
Topological domain424 – 4296Cytoplasmic Potential
Transmembrane430 – 45021Helical; Name=5; Potential
Topological domain451 – 47525Extracellular Potential
Transmembrane476 – 49621Helical; Name=6; Potential
Topological domain497 – 51014Cytoplasmic Potential
Transmembrane511 – 53121Helical; Name=7; Potential
Topological domain532 – 55221Extracellular Potential

Sequences

Sequence LengthMass (Da)Tools
Q92819 [UniParc].

Last modified February 1, 1997. Version 1.
Checksum: EEEF58D97B131F9D

FASTA55263,566
        10         20         30         40         50         60 
MHCERFLCIL RIIGTTLFGV SLLLGITAAY IVGYQFIQTD NYYFSFGLYG AFLASHLIIQ 

        70         80         90        100        110        120 
SLFAFLEHRK MKKSLETPIK LNKTVALCIA AYQEDPDYLR KCLQSVKRLT YPGIKVVMVI 

       130        140        150        160        170        180 
DGNSEDDLYM MDIFSEVMGR DKSATYIWKN NFHEKGPGET DESHKESSQH VTQLVLSNKS 

       190        200        210        220        230        240 
ICIMQKWGGK REVMYTAFRA LGRSVDYVQV CDSDTMLDPA SSVEMVKVLE EDPMVGGVGG 

       250        260        270        280        290        300 
DVQILNKYDS WISFLSSVRY WMAFNIERAC QSYFGCVQCI SGPLGMYRNS LLHEFVEDWY 

       310        320        330        340        350        360 
NQEFMGNQCS FGDDRHLTNR VLSLGYATKY TARSKCLTET PIEYLRWLNQ QTRWSKSYFR 

       370        380        390        400        410        420 
EWLYNAMWFH KHHLWMTYEA IITGFFPFFL IATVIQLFYR GKIWNILLFL LTVQLVGLIK 

       430        440        450        460        470        480 
SSFASCLRGN IVMVFMSLYS VLYMSSLLPA KMFAIATINK AGWGTSGRKT IVVNFIGLIP 

       490        500        510        520        530        540 
VSVWFTILLG GVIFTIYKES KRPFSESKQT VLIVGTLLYA CYWVMLLTLY VVLINKCGRR 

       550 
KKGQQYDMVL DV 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U54804 mRNA. Translation: AAC50692.1.
BC069353 mRNA. Translation: AAH69353.1.
BC109071 mRNA. Translation: AAI09072.1.
BC109072 mRNA. Translation: AAI09073.1.
RefSeqNP_005319.1. NM_005328.2.
UniGeneHs.159226.

3D structure databases

ProteinModelPortalQ92819.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109287. 3 interactions.
STRING9606.ENSP00000306991.

Protein family/group databases

CAZyGT2. Glycosyltransferase Family 2.

PTM databases

PhosphoSiteQ92819.

Polymorphism databases

DMDM7387737.

Proteomic databases

PaxDbQ92819.
PRIDEQ92819.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303924; ENSP00000306991; ENSG00000170961.
GeneID3037.
KEGGhsa:3037.
UCSCuc003yph.2. human.

Organism-specific databases

CTD3037.
GeneCardsGC08M122624.
HGNCHGNC:4819. HAS2.
MIM601636. gene.
neXtProtNX_Q92819.
PharmGKBPA29195.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1215.
HOGENOMHOG000112847.
HOVERGENHBG000189.
InParanoidQ92819.
KOK00752.
OMATAYIMGY.
OrthoDBEOG77WWBZ.
PhylomeDBQ92819.
TreeFamTF332506.

Enzyme and pathway databases

BRENDA2.4.1.212. 2681.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00341.

Gene expression databases

BgeeQ92819.
CleanExHS_HAS2.
GenevestigatorQ92819.

Family and domain databases

InterProIPR026107. HAS/NodC.
IPR028371. HAS2.
[Graphical view]
PANTHERPTHR22913. PTHR22913. 1 hit.
PTHR22913:SF7. PTHR22913:SF7. 1 hit.
ProtoNetSearch...

Other

ChiTaRSHAS2. human.
GeneWikiHAS2.
GenomeRNAi3037.
NextBio12022.
PROQ92819.
SOURCESearch...

Entry information

Entry nameHYAS2_HUMAN
AccessionPrimary (citable) accession number: Q92819
Secondary accession number(s): Q32MM3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 1, 1997
Last modified: February 19, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM