Human Gene HAS3 (uc010cfh.3)
  Description: Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.
RefSeq Summary (NM_001199280): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:69,139,467-69,151,570 Size: 12,104 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr16:69,143,299-69,149,169 Size: 5,871 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:69,139,467-69,151,570)mRNA (may differ from genome)Protein (553 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIneXtProtOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HAS3_HUMAN
DESCRIPTION: RecName: Full=Hyaluronan synthase 3; EC=2.4.1.212; AltName: Full=Hyaluronate synthase 3; AltName: Full=Hyaluronic acid synthase 3; Short=HA synthase 3;
FUNCTION: Plays a role in hyaluronan/hyaluronic acid (HA) synthesis.
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).
CATALYTIC ACTIVITY: 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).
SIMILARITY: Belongs to the NodC/HAS family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HAS3
CDC HuGE Published Literature: HAS3
Positive Disease Associations: ADHD | attention-deficit hyperactivity disorder , Body Mass Index , Lipoproteins, HDL , Waist Circumference
Related Studies:
  1. ADHD | attention-deficit hyperactivity disorder
    Lasky-Su ,et al. 2008, Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations, American journal of medical genetics. Part B, Neuropsychiatric genetics 2008 147B- 8 : 1345-54. [PubMed 18821565]
  2. Body Mass Index
    , , . [PubMed 0]
  3. Lipoproteins, HDL
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.89 RPKM in Bladder
Total median expression: 72.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.13224-0.268 Picture PostScript Text
3' UTR -787.742401-0.328 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026108 - HA_synthase_3
IPR026107 - HAS/NodC

Pfam Domains:
PF03142 - Chitin synthase
PF13506 - Glycosyl transferase family 21
PF13632 - Glycosyl transferase family group 2
PF13641 - Glycosyltransferase like family 2

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on O00219
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0050501 hyaluronan synthase activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0007155 cell adhesion
GO:0030213 hyaluronan biosynthetic process
GO:0045226 extracellular polysaccharide biosynthetic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0085029 extracellular matrix assembly
GO:1900106 positive regulation of hyaluranon cable assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0036117 hyaluranon cable


-  Descriptions from all associated GenBank mRNAs
  LF208300 - JP 2014500723-A/15803: Polycomb-Associated Non-Coding RNAs.
LF212236 - JP 2014500723-A/19739: Polycomb-Associated Non-Coding RNAs.
AK291400 - Homo sapiens cDNA FLJ77140 complete cds, highly similar to Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 1, mRNA.
FJ648811 - Homo sapiens hyaluronan synthase 3 variant 2 (HAS3) mRNA, partial cds, alternatively spliced.
BC021853 - Homo sapiens hyaluronan synthase 3, mRNA (cDNA clone MGC:30024 IMAGE:4477285), complete cds.
FJ648810 - Homo sapiens hyaluronan synthase 3 variant 1 (HAS3) mRNA, partial cds, alternatively spliced.
AF234839 - Homo sapiens hyaluronan synthase 3 (HAS3) mRNA, complete cds.
AF232772 - Homo sapiens hyaluronan synthase 3 (HAS3) mRNA, complete cds.
KJ896958 - Synthetic construct Homo sapiens clone ccsbBroadEn_06352 HAS3 gene, encodes complete protein.
DQ591719 - Homo sapiens piRNA piR-58831, complete sequence.
JD237362 - Sequence 218386 from Patent EP1572962.
JD045576 - Sequence 26600 from Patent EP1572962.
JD077066 - Sequence 58090 from Patent EP1572962.
JD354968 - Sequence 335992 from Patent EP1572962.
JD302037 - Sequence 283061 from Patent EP1572962.
JD479670 - Sequence 460694 from Patent EP1572962.
JD099006 - Sequence 80030 from Patent EP1572962.
JD052108 - Sequence 33132 from Patent EP1572962.
JD075063 - Sequence 56087 from Patent EP1572962.
LF374350 - JP 2014500723-A/181853: Polycomb-Associated Non-Coding RNAs.
JD425953 - Sequence 406977 from Patent EP1572962.
LF374351 - JP 2014500723-A/181854: Polycomb-Associated Non-Coding RNAs.
JD446903 - Sequence 427927 from Patent EP1572962.
JD260044 - Sequence 241068 from Patent EP1572962.
JD049342 - Sequence 30366 from Patent EP1572962.
JD066289 - Sequence 47313 from Patent EP1572962.
JD184007 - Sequence 165031 from Patent EP1572962.
JD453253 - Sequence 434277 from Patent EP1572962.
JD091110 - Sequence 72134 from Patent EP1572962.
JD444966 - Sequence 425990 from Patent EP1572962.
JD489703 - Sequence 470727 from Patent EP1572962.
JD237078 - Sequence 218102 from Patent EP1572962.
JD341456 - Sequence 322480 from Patent EP1572962.
JD123502 - Sequence 104526 from Patent EP1572962.
JD446274 - Sequence 427298 from Patent EP1572962.
JD078425 - Sequence 59449 from Patent EP1572962.
JD525079 - Sequence 506103 from Patent EP1572962.
JD266064 - Sequence 247088 from Patent EP1572962.
JD548888 - Sequence 529912 from Patent EP1572962.
JD263954 - Sequence 244978 from Patent EP1572962.
JD565127 - Sequence 546151 from Patent EP1572962.
JD303707 - Sequence 284731 from Patent EP1572962.
JD432022 - Sequence 413046 from Patent EP1572962.
JD559772 - Sequence 540796 from Patent EP1572962.
JD418263 - Sequence 399287 from Patent EP1572962.
JD421740 - Sequence 402764 from Patent EP1572962.
JD480830 - Sequence 461854 from Patent EP1572962.
JD480831 - Sequence 461855 from Patent EP1572962.
JD419658 - Sequence 400682 from Patent EP1572962.
JD214774 - Sequence 195798 from Patent EP1572962.
JD300675 - Sequence 281699 from Patent EP1572962.
JD132129 - Sequence 113153 from Patent EP1572962.
JD546517 - Sequence 527541 from Patent EP1572962.
JD511991 - Sequence 493015 from Patent EP1572962.
JD045794 - Sequence 26818 from Patent EP1572962.
JD427392 - Sequence 408416 from Patent EP1572962.
JD530474 - Sequence 511498 from Patent EP1572962.
JD359841 - Sequence 340865 from Patent EP1572962.
LQ969669 - Sequence 153 from Patent WO2014198843.
MA443877 - JP 2018138019-A/15803: Polycomb-Associated Non-Coding RNAs.
MA447813 - JP 2018138019-A/19739: Polycomb-Associated Non-Coding RNAs.
MA609927 - JP 2018138019-A/181853: Polycomb-Associated Non-Coding RNAs.
MA609928 - JP 2018138019-A/181854: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O00219 (Reactome details) participates in the following event(s):

R-HSA-2142850 Hyaluronan biosynthesis and export
R-HSA-2142845 Hyaluronan metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5T5, HAS3_HUMAN, NM_001199280, NP_005320, O00219, Q8WTZ0, Q9NYP0
UCSC ID: uc010cfh.3
RefSeq Accession: NM_001199280
Protein: O00219 (aka HAS3_HUMAN)
CCDS: CCDS10871.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001199280.1
exon count: 4CDS single in 3' UTR: no RNA size: 4288
ORF size: 1662CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3524.00frame shift in genome: no % Coverage: 99.98
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.