HAS3 hyaluronan synthase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAS3provided by HGNC
Official Full Name: hyaluronan synthase 3provided by HGNC
Primary source: HGNC:HGNC:4820
See related: Ensembl:ENSG00000103044 MIM:602428; AllianceGenome:HGNC:4820
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Broad expression in urinary bladder (RPKM 19.2), lung (RPKM 12.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (69083484..69118719)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (74879801..74915029)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (69139556..69152622)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epidermal keratinocytes regulate hyaluronan metabolism via extracellularly secreted hyaluronidase 1 and hyaluronan synthase 3.
Title: Epidermal keratinocytes regulate hyaluronan metabolism via extracellularly secreted hyaluronidase 1 and hyaluronan synthase 3.
Melatonin inhibits the stemness of head and neck squamous cell carcinoma by modulating HA synthesis via the FOSL1/HAS3 axis.
Title: Melatonin inhibits the stemness of head and neck squamous cell carcinoma by modulating HA synthesis via the FOSL1/HAS3 axis.
4-Methylumebelliferone Enhances Radiosensitizing Effects of Radioresistant Oral Squamous Cell Carcinoma Cells via Hyaluronan Synthase 3 Suppression.
Title: 4-Methylumebelliferone Enhances Radiosensitizing Effects of Radioresistant Oral Squamous Cell Carcinoma Cells via Hyaluronan Synthase 3 Suppression.
Hyaluronan synthase 3 is protective after cardiac ischemia-reperfusion by preserving the T cell response.
Title: Hyaluronan synthase 3 is protective after cardiac ischemia-reperfusion by preserving the T cell response.
A Connecting Link between Hyaluronan Synthase 3-Mediated Hyaluronan Production and Epidermal Function.
Title: A Connecting Link between Hyaluronan Synthase 3-Mediated Hyaluronan Production and Epidermal Function.
Endothelial Hyaluronan Synthase 3 Augments Postischemic Arteriogenesis Through CD44/eNOS Signaling.
Title: Endothelial Hyaluronan Synthase 3 Augments Postischemic Arteriogenesis Through CD44/eNOS Signaling.
HAS3-induced extracellular vesicles from melanoma cells stimulate IHH mediated c-Myc upregulation via the hedgehog signaling pathway in target cells.
Title: HAS3-induced extracellular vesicles from melanoma cells stimulate IHH mediated c-Myc upregulation via the hedgehog signaling pathway in target cells.
The regulation of HAS3 by miR-10b and miR-29a in neuroendocrine transdifferentiated LNCaP prostate cancer cells.
Title: The regulation of HAS3 by miR-10b and miR-29a in neuroendocrine transdifferentiated LNCaP prostate cancer cells.
There was a higher HAS1 and HAS2 reactivity and lower HAS3 reactivity in the PCOS endometrium compared to women with regular menstrual cycles in the proliferative phase.
Title: Analysis of hyaluronic acid in the endometrium of women with polycystic ovary syndrome.
Study shows that HAS3 is induced by IL-1beta in vascular smooth muscle cells and that HAS3 is critically involved in early macrophage driven inflammation.
Title: Hyaluronan synthase 3 promotes plaque inflammation and atheroprogression.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3301 (e-PCR)
- UniSTS:15940

D16S2678 (e-PCR)
- UniSTS:152427

SHGC-60590 (e-PCR)
- UniSTS:45752

SHGC-60824 (e-PCR)
- UniSTS:6100

G32357 (e-PCR)
- UniSTS:116948

RH48919 (e-PCR)
- UniSTS:72169

A006H34 (e-PCR)
- UniSTS:56047

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hyaluronan synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables hyaluronan synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables hyaluronan synthase activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in extracellular matrix assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular polysaccharide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular polysaccharide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in hyaluronan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hyaluronan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hyaluronan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hyaluronan biosynthetic process	TAS Traceable Author Statement more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of hyaluranon cable assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in hyaluranon cable	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: hyaluronan synthase 3

Names: HA synthase 3; hyaluronate synthase 3; hyaluronic acid synthase 3

NP_001186209.1

EC 2.4.1.212

NP_005320.2

EC 2.4.1.212

NP_619515.1

EC 2.4.1.212

XP_005255978.1

EC 2.4.1.212

XP_011521363.1

EC 2.4.1.212

XP_047290001.1

EC 2.4.1.212

XP_047290002.1

EC 2.4.1.212

XP_047290003.1

EC 2.4.1.212

XP_054236175.1

EC 2.4.1.212

XP_054236176.1

EC 2.4.1.212

XP_054236177.1

EC 2.4.1.212

XP_054236178.1

EC 2.4.1.212

XP_054236179.1

EC 2.4.1.212

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047056.2 RefSeqGene

Range

27171..39178

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199280.2 → NP_001186209.1 hyaluronan synthase 3 isoform a

See identical proteins and their annotated locations for NP_001186209.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript. Both variants 1 and 3 encode the same protein (isoform a).

Source sequence(s)

AC009027, AK291400

Consensus CDS

CCDS10871.1

UniProtKB/Swiss-Prot

A8K5T5, O00219, Q8WTZ0, Q9NYP0

UniProtKB/TrEMBL

Q96RV2

Related

ENSP00000454731.1, ENST00000569188.6

Conserved Domains (1) summary

cd06434
Location:86 → 364

GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
NM_005329.3 → NP_005320.2 hyaluronan synthase 3 isoform a

See identical proteins and their annotated locations for NP_005320.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains a different 5' exon as compared to variant 3. Both variants 1 and 3 encode the same protein (isoform a).

Source sequence(s)

AC009027, AF234839

Consensus CDS

CCDS10871.1

UniProtKB/Swiss-Prot

A8K5T5, O00219, Q8WTZ0, Q9NYP0

UniProtKB/TrEMBL

Q96RV2

Related

ENSP00000304440.1, ENST00000306560.1

Conserved Domains (1) summary

cd06434
Location:86 → 364

GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
NM_138612.3 → NP_619515.1 hyaluronan synthase 3 isoform b

See identical proteins and their annotated locations for NP_619515.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a different 5' and 3' exon as compared to variant 3. As a result, variant 2 encodes isoform b, which has the same N-terminus but is shorter and has a different C-terminus than isoform a encoded by variant 3.

Source sequence(s)

AC009027, BC021853

Consensus CDS

CCDS10870.1

UniProtKB/TrEMBL

H3BRH5

Related

ENSP00000219322.3, ENST00000219322.7

Conserved Domains (1) summary

cl11394
Location:86 → 247

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold