HAS1 hyaluronan synthase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAS1provided by HGNC
Official Full Name: hyaluronan synthase 1provided by HGNC
Primary source: HGNC:HGNC:4818
See related: Ensembl:ENSG00000105509 MIM:601463; AllianceGenome:HGNC:4818
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
Also known as: HAS
Summary: Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression: Broad expression in appendix (RPKM 1.7), ovary (RPKM 1.2) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.41

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51713112..51723991, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54800274..54811173, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (52216365..52227244, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.
Title: Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.
Hyaluronic acid (HA) stimulates the in vitro expression of CD44 proteins but not HAS1 proteins in normal human epidermal keratinocytes (NHEKs) and is HA molecular weight dependent.
Title: Hyaluronic acid (HA) stimulates the in vitro expression of CD44 proteins but not HAS1 proteins in normal human epidermal keratinocytes (NHEKs) and is HA molecular weight dependent.
Regulation of hyaluronan production by beta2 adrenergic receptor signaling.
Title: Regulation of hyaluronan production by β2 adrenergic receptor signaling.
Epigenome-wide association study in healthy individuals identifies significant associations with DNA methylation and PBMC extract VEGF-A concentration.
Title: Epigenome-wide association study in healthy individuals identifies significant associations with DNA methylation and PBMC extract VEGF-A concentration.
miR-125a regulates HAS1 and inhibits the proliferation, invasion and metastasis by targeting STAT3 in non-small cell lung cancer cells.
Title: miR-125a regulates HAS1 and inhibits the proliferation, invasion and metastasis by targeting STAT3 in non-small cell lung cancer cells.
Targeting the Stromal Pro-Tumoral Hyaluronan-CD44 Pathway in Pancreatic Cancer.
Title: Targeting the Stromal Pro-Tumoral Hyaluronan-CD44 Pathway in Pancreatic Cancer.
Hyaluronan Synthases' Expression and Activity Are Induced by Fluid Shear Stress in Bone Marrow-Derived Mesenchymal Stem Cells.
Title: Hyaluronan Synthases' Expression and Activity Are Induced by Fluid Shear Stress in Bone Marrow-Derived Mesenchymal Stem Cells.
These results demonstrate that miR-125a could constrain cell migration, invasion, and regulate HAS1 expression in renal cell carcinoma cells by targeting STAT3.
Title: MicroRNA-125a suppresses cell migration, invasion, and regulates hyaluronic acid synthase 1 expression by targeting signal transducers and activators of transcription 3 in renal cell carcinoma 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.
hyaluronic acid synthase-1 promotes malignant transformation via epithelial-to-mesenchymal transition, micronucleation and centrosome abnormalities
Title: Human hyaluronic acid synthase-1 promotes malignant transformation via epithelial-to-mesenchymal transition, micronucleation and centrosome abnormalities.

Submit: New GeneRIF Correction See all GeneRIFs (50)

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
Discovery and refinement of loci associated with lipid levels. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of hyaluronan synthase 1 (HAS1) in peptide-treated PBMCs	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	ISS Inferred from Sequence or Structural Similarity more info
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 cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to platelet-derived growth factor stimulus	IDA Inferred from Direct Assay 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 glycosaminoglycan biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in hyaluronan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
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 negative regulation of fibroblast migration	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
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 1

Names: HA synthase 1; hyaluronate synthase 1; hyaluronic acid synthase 1

NP_001284365.1

EC 2.4.1.212

NP_001514.2

EC 2.4.1.212

XP_011525186.1

EC 2.4.1.212

XP_047294675.1

EC 2.4.1.212

XP_054176750.1

EC 2.4.1.212

XP_054176751.1

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.

mRNA and Protein(s)

NM_001297436.2 → NP_001284365.1 hyaluronan synthase 1 isoform 2

See identical proteins and their annotated locations for NP_001284365.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1.

Source sequence(s)

AM904814, BC035837, BX371636

Consensus CDS

CCDS74436.1

UniProtKB/TrEMBL

G3V1S7, Q8IYH3

Related

ENSP00000445021.2, ENST00000540069.7

Conserved Domains (2) summary

TIGR04242
Location:51 → 487

nodulat_NodC; chitooligosaccharide synthase NodC

cl11394
Location:95 → 385

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
NM_001523.4 → NP_001514.2 hyaluronan synthase 1 isoform 1

See identical proteins and their annotated locations for NP_001514.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AM904814, BC035837, U59269

Consensus CDS

CCDS12838.1

UniProtKB/Swiss-Prot

Q14470, Q92839, Q9NS49

UniProtKB/TrEMBL

Q8IYH3

Related

ENSP00000222115.1, ENST00000222115.5

Conserved Domains (1) summary

cl11394
Location:96 → 386

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

51713112..51723991 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438719.1 → XP_047294675.1 hyaluronan synthase 1 isoform X2
XM_011526884.3 → XP_011525186.1 hyaluronan synthase 1 isoform X1

Conserved Domains (1) summary

cl11394
Location:96 → 310

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