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... See more...

Aliases for HAS3 Gene

Aliases for HAS3 Gene

  • Hyaluronan Synthase 3 2 3 4 5
  • Hyaluronic Acid Synthase 3 3 4
  • Hyaluronate Synthase 3 3 4
  • HA Synthase 3 3 4
  • EC 2.4.1.212 4

External Ids for HAS3 Gene

Previous GeneCards Identifiers for HAS3 Gene

  • GC16P059825
  • GC16P069517
  • GC16P068875
  • GC16P068916
  • GC16P067697
  • GC16P069140
  • GC16P055012

Summaries for HAS3 Gene

Entrez Gene Summary for HAS3 Gene

  • 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]

GeneCards Summary for HAS3 Gene

HAS3 (Hyaluronan Synthase 3) is a Protein Coding gene. Diseases associated with HAS3 include Nodular Basal Cell Carcinoma and Deafness, Autosomal Dominant 40. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include hyaluronan synthase activity. An important paralog of this gene is HAS2.

UniProtKB/Swiss-Prot Summary for HAS3 Gene

  • 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 (By similarity).

Gene Wiki entry for HAS3 Gene

Additional gene information for HAS3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAS3 Gene

Genomics for HAS3 Gene

GeneHancer (GH) Regulatory Elements for HAS3 Gene

Promoters and enhancers for HAS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J069105 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.5 1456 4 CTCF MYC POLR2G USF1 TEAD4 ZIC2 POLR2A ZBTB10 ZBTB26 SAP30 HAS3 lnc-TANGO6-1 lnc-TANGO6-3 SNTB2 NFAT5 ENSG00000260290 NOB1
GH16J069057 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.4 -48.3 -48263 4.2 TCF12 JUND POLR2A FOS SIX5 FOSL2 ARNT CEBPB PBX2 NBN CDH1 RNU6-898P HAS3 SNTB2 ENSG00000200164 TMED6 RF00017-2119 RPS2P45 TANGO6
GH16J069039 Enhancer 1.1 Ensembl ENCODE 11.2 -65.4 -65363 2.4 FOXK2 POLR2G NCOR1 TCF7 ZBTB25 SKI TEAD1 TBX3 KMT2B NR2F2 HAS3 NOB1 SNTB2 RPS2P45 RF00017-2119 TANGO6
GH16J069031 Enhancer 0.9 Ensembl ENCODE 11.1 -73.6 -73551 1.1 TGIF2 TEAD1 FOXA2 USF1 SAP130 FOSL2 JUND SMAD4 ZGPAT ZFP91 RPS2P45 RNU6-898P HAS3 NOB1 LOC101060098 TANGO6
GH16J068990 Enhancer 0.8 ENCODE 11.4 -111.7 -111686 6.5 CTCF TCF12 JUND POLR2A TEAD1 FOXA2 HDAC2 FOS SIX5 RAD21 lnc-CHTF8-8 UTP4 HAS3 SNTB2 ENSG00000200164 CDH1 FTLP14 NFATC3 ENSG00000260999 TANGO6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAS3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAS3

Top Transcription factor binding sites by QIAGEN in the HAS3 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • HEN1
  • Nkx2-5
  • RORalpha1

Genomic Locations for HAS3 Gene

Genomic Locations for HAS3 Gene
chr16:69,105,564-69,118,719
(GRCh38/hg38)
Size:
13,156 bases
Orientation:
Plus strand
chr16:69,139,467-69,152,622
(GRCh37/hg19)
Size:
13,156 bases
Orientation:
Plus strand

Genomic View for HAS3 Gene

Genes around HAS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAS3 Gene

Proteins for HAS3 Gene

  • Protein details for HAS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00219-HYAS3_HUMAN
    Recommended name:
    Hyaluronan synthase 3
    Protein Accession:
    O00219
    Secondary Accessions:
    • A8K5T5
    • Q8WTZ0
    • Q9NYP0

    Protein attributes for HAS3 Gene

    Size:
    553 amino acids
    Molecular mass:
    62998 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HAS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAS3 Gene

Post-translational modifications for HAS3 Gene

  • Glycosylation at Asn462
  • Modification sites at PhosphoSitePlus

Other Protein References for HAS3 Gene

No data available for DME Specific Peptides for HAS3 Gene

Domains & Families for HAS3 Gene

Gene Families for HAS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for HAS3 Gene

Blocks:
  • Glycosyl transferase, family 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAS3 Gene

GenScript: Design optimal peptide antigens:
  • Hyaluronan synthase 3 variant 2 (C0KZD9_HUMAN)
  • Hyaluronic acid synthase 3 (HAS3_HUMAN)
  • Hyaluronan synthase 3 (Q96RV2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00219

UniProtKB/Swiss-Prot:

HYAS3_HUMAN :
  • Belongs to the NodC/HAS family.
Family:
  • Belongs to the NodC/HAS family.
genes like me logo Genes that share domains with HAS3: view

Function for HAS3 Gene

Molecular function for HAS3 Gene

UniProtKB/Swiss-Prot 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 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP; Xref=Rhea:RHEA:20465, Rhea:RHEA-COMP:12583, Rhea:RHEA-COMP:12585, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:132153, ChEBI:CHEBI:132154; EC=2.4.1.212;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP-alpha-D-glucuronate = [hyaluronan](n+1) + H(+) + UDP; Xref=Rhea:RHEA:12528, Rhea:RHEA-COMP:12585, Rhea:RHEA-COMP:12587, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132153, ChEBI:CHEBI:132154; EC=2.4.1.212;.
GENATLAS Biochemistry:
hyaluronan synthase gene 3,63.3kDa

Enzyme Numbers (IUBMB) for HAS3 Gene

Phenotypes From GWAS Catalog for HAS3 Gene

Gene Ontology (GO) - Molecular Function for HAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25795779
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0042802 identical protein binding IPI 25795779
GO:0050501 hyaluronan synthase activity IBA,IDA 16900089
genes like me logo Genes that share ontologies with HAS3: view
genes like me logo Genes that share phenotypes with HAS3: view

Animal Models for HAS3 Gene

MGI Knock Outs for HAS3:
  • Has3 Has3<tm1Daq>
  • Has3 Has3<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAS3

Clone Products

  • Addgene plasmids for HAS3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HAS3 Gene

Localization for HAS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAS3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAS3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
golgi apparatus 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 9083017
genes like me logo Genes that share ontologies with HAS3: view

Pathways & Interactions for HAS3 Gene

genes like me logo Genes that share pathways with HAS3: view

UniProtKB/Swiss-Prot O00219-HYAS3_HUMAN

  • Pathway: Glycan biosynthesis; hyaluronan biosynthesis.

Gene Ontology (GO) - Biological Process for HAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 9169154
GO:0030213 hyaluronan biosynthetic process TAS --
GO:0045226 extracellular polysaccharide biosynthetic process IBA,ISS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 16900089
GO:0085029 extracellular matrix assembly IBA,ISS --
genes like me logo Genes that share ontologies with HAS3: view

No data available for SIGNOR curated interactions for HAS3 Gene

Drugs & Compounds for HAS3 Gene

(9) Drugs for HAS3 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma 730
Magnesium Approved, Experimental, Investigational Pharma 0
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
anthracyclines and related substances Pharma 0

(4) Additional Compounds for HAS3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with HAS3: view

Transcripts for HAS3 Gene

mRNA/cDNA for HAS3 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAS3

Clone Products

  • Addgene plasmids for HAS3

Alternative Splicing Database (ASD) splice patterns (SP) for HAS3 Gene

No ASD Table

Relevant External Links for HAS3 Gene

GeneLoc Exon Structure for
HAS3

Expression for HAS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAS3 Gene

This gene is overexpressed in Esophagus - Mucosa (x9.9), Minor Salivary Gland (x8.5), and Bladder (x4.3).

Protein differential expression in normal tissues from HIPED for HAS3 Gene

This gene is overexpressed in Adrenal (36.8) and Urine (32.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HAS3 Gene



Protein tissue co-expression partners for HAS3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAS3

SOURCE GeneReport for Unigene cluster for HAS3 Gene:

Hs.592069

Evidence on tissue expression from TISSUES for HAS3 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with HAS3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAS3 Gene

Orthologs for HAS3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HAS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAS3 31 30
  • 99.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAS3 31
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAS3 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAS3 31 30
  • 93.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HAS3 31 30
  • 92.77 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Has3 30
  • 90.6 (n)
mouse
(Mus musculus)
Mammalia Has3 17 31 30
  • 90.24 (n)
chicken
(Gallus gallus)
Aves HAS3 31 30
  • 82.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAS3 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia has3 30
  • 72.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC399037 30
zebrafish
(Danio rerio)
Actinopterygii has3 31 30
  • 72.03 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHS3 33
Species where no ortholog for HAS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HAS3 Gene

ENSEMBL:
Gene Tree for HAS3 (if available)
TreeFam:
Gene Tree for HAS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HAS3: view image

Paralogs for HAS3 Gene

Paralogs for HAS3 Gene

(2) SIMAP similar genes for HAS3 Gene using alignment to 4 proteins:

  • HYAS3_HUMAN
  • C0KZD9_HUMAN
  • H3BRH5_HUMAN
  • Q96RV2_HUMAN

Pseudogenes.org Pseudogenes for HAS3 Gene

genes like me logo Genes that share paralogs with HAS3: view

Variants for HAS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAS3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
709923 Benign: not provided 69,109,609(+) C/T MISSENSE_VARIANT
731126 Benign: not provided 69,115,181(+) C/G MISSENSE_VARIANT,INTRON_VARIANT
781209 Benign: not provided 69,115,194(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
rs147999236 Uncertain Significance: not provided 69,109,536(+) G/T SYNONYMOUS_VARIANT
rs2232228 Drug Response: anthracyclines and related substances response - Toxicity/ADR 69,109,674(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HAS3 Gene

Structural Variations from Database of Genomic Variants (DGV) for HAS3 Gene

Variant ID Type Subtype PubMed ID
nsv833268 CNV loss 17160897

Variation tolerance for HAS3 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAS3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAS3 Gene

Disorders for HAS3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HAS3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
nodular basal cell carcinoma
  • basal cell carcinoma, nodular
deafness, autosomal dominant 40
  • dfna40
- elite association - COSMIC cancer census association via MalaCards
Search HAS3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAS3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HAS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAS3 Gene

Publications for HAS3 Gene

  1. Molecular cloning and characterization of a cDNA encoding the third putative mammalian hyaluronan synthase. (PMID: 9083017) Spicer AP … McDonald JA (The Journal of biological chemistry 1997) 2 3 4 23 54
  2. Further evidence for the association of MMP9 with nephropathy in type 2 diabetes and application of DNA pooling technology to candidate gene screening. (PMID: 18587729) Nair S … Bowen T (Journal of nephrology 2008) 3 23 41 54
  3. Chromosomal localization of the human and mouse hyaluronan synthase genes. (PMID: 9169154) Spicer AP … McDonald JA (Genomics 1997) 2 3 23 54
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. Expression of hyaluronan synthases (HAS1-3) and hyaluronidases (HYAL1-2) in serous ovarian carcinomas: inverse correlation between HYAL1 and hyaluronan content. (PMID: 19435493) Nykopp TK … Anttila M (BMC cancer 2009) 3 23 54

Products for HAS3 Gene

Sources for HAS3 Gene