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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
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
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: 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 ]
Body Mass Index , , .
[PubMed 0 ]
Lipoproteins, HDL , , .
[PubMed 0 ]
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Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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
Other Names for This Gene
Alternate Gene Symbols: A8K5T5, HAS3_HUMAN, NM_001199280, NP_005320, O00219, Q8WTZ0, Q9NYP0UCSC ID: uc010cfh.3RefSeq 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:
4 CDS single in 3' UTR:
no
RNA size:
4288
ORF size:
1662 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
3524.00 frame 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.