Display Settings:

Format

Send to:

Choose Destination

HAS1 hyaluronan synthase 1 [ Homo sapiens (human) ]

Gene ID: 3036, updated on 24-Jan-2015
Official Symbol
HAS1provided by HGNC
Official Full Name
hyaluronan synthase 1provided by HGNC
Primary source
HGNC:HGNC:4818
See related
Ensembl:ENSG00000105509; HPRD:03271; MIM:601463; Vega:OTTHUMG00000183499
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]
Orthologs
See HAS1 in MapViewer
Location:
19q13.4
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (51713112..51723986, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52216365..52227239, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SPACA6P antisense RNA Neighboring gene microRNA 125a Neighboring gene sperm acrosome associated 6, pseudogene Neighboring gene formyl peptide receptor 1 Neighboring gene formyl peptide receptor 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog

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

Go to the HIV-1, Human Interaction Database

  • Defective B3GAT3 causes JDSSDHD, organism-specific biosystem (from REACTOME)
    Defective B3GAT3 causes JDSSDHD, organism-specific biosystemGalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferases1, 2 and 3 (B3GAT1-3) are involved in forming the linker tetrasaccharide present in heparan sulfate and chondroitin sulfate. Defects ...
  • Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystem (from REACTOME)
    Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystemCongenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemica...
  • Defective B4GALT7 causes EDS, progeroid type, organism-specific biosystem (from REACTOME)
    Defective B4GALT7 causes EDS, progeroid type, organism-specific biosystemEhlersDanlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen types I or III. Abnormal collagen renders connective tissues more elas...
  • Defective CHST14 causes EDS, musculocontractural type, organism-specific biosystem (from REACTOME)
    Defective CHST14 causes EDS, musculocontractural type, organism-specific biosystemCarbohydrate sulfotransferase 14 (CHST14 also known as D4ST-1) mediates the transfer of sulfate to position 4 of further N-acetylgalactosamine (GalNAc) residues of dermatan sulfate (DS). Defects in C...
  • Defective CHST3 causes SEDCJD, organism-specific biosystem (from REACTOME)
    Defective CHST3 causes SEDCJD, organism-specific biosystemCarbohydrate sulfotransferase 3 (CHST3) transfers sulfate (SO4(2-)) to position 6 of N-acetylgalactosamine (GalNAc) residues of chondroitin-containg proteins resulting in chondroitin sulfate (CS), th...
  • Defective CHST6 causes MCDC1, organism-specific biosystem (from REACTOME)
    Defective CHST6 causes MCDC1, organism-specific biosystemCarbohydrate sulfotransferase 6 (CHST6) catalyzes the transfer of sulfate to position 6 of non-reducing ends of N-acetylglucosamine (GlcNAc) residues on keratan sulfate (KS). KS plays a central role ...
  • Defective CHSY1 causes TPBS, organism-specific biosystem (from REACTOME)
    Defective CHSY1 causes TPBS, organism-specific biosystemChondroitin sulfate synthases (CHSY) are involved in the synthesis of chondroitin sulfate, adding alternatingly glucuronate (GlcA) and N-acetylgalactosamine (GalNAc) to the growing chondroitin polyme...
  • Defective EXT1 causes exostoses 1, TRPS2 and CHDS, organism-specific biosystem (from REACTOME)
    Defective EXT1 causes exostoses 1, TRPS2 and CHDS, organism-specific biosystemHeparan sulfate (HS) is involved in regulating various body functions functions during development, homeostasis and pathology including blood clotting, angiogenesis and metastasis of cancer cells. Ex...
  • Defective EXT2 causes exostoses 2, organism-specific biosystem (from REACTOME)
    Defective EXT2 causes exostoses 2, organism-specific biosystemHeparan sulfate (HS) is involved in regulating various body functions during development, homeostasis and pathology including blood clotting, angiogenesis and metastasis of cancer cells. Exostosin 1 ...
  • Defective PAPSS2 causes SEMD-PA, organism-specific biosystem (from REACTOME)
    Defective PAPSS2 causes SEMD-PA, organism-specific biosystemDefects in PAPSS2 cause spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA; MIM:612847), a bone disease characterized by epiphyseal dysplasia with mild metaphyseal abnormalities. Clinical featu...
  • Defective SLC26A2 causes chondrodysplasias, organism-specific biosystem (from REACTOME)
    Defective SLC26A2 causes chondrodysplasias, organism-specific biosystemThe SLC26A1 and 2 genes encode sulfate transporter proteins that facilitate sulfate uptake into cells, critical in cartilage for sulfation of proteoglycans and extracellular matrix organization. Defe...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Diseases associated with glycosaminoglycan metabolism, organism-specific biosystemA number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of glycosaminoglycans (GAGs) as well as ...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Hyaluronan biosynthesis and export, organism-specific biosystem (from REACTOME)
    Hyaluronan biosynthesis and export, organism-specific biosystemHyaluronan (hyaluronic acid, HA) is composed of repeating disaccharide units of glucuronic acid and N-acetylglucosamine [-4GlcAb1-3GlcNAcb1-]. It is synthesized in the cell membrane by adding monosac...
  • Hyaluronan metabolism, organism-specific biosystem (from REACTOME)
    Hyaluronan metabolism, organism-specific biosystemHyaluronan (hyaluronic acid, hyaluronate or HA) is an anionic glycosaminoglycan (GAG) distributed widely throughout connective, epithelial, and neural tissues and most abundant in the extracellular m...
  • MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
    MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
  • MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
    MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
  • MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
    MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
  • MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
    MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
  • MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
    MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
  • MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
    MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
  • MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
  • MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
  • MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
    MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
  • MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
    MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
  • MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
    MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
    Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hyaluronan synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
hyaluronan synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cellular response to platelet-derived growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular matrix assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular polysaccharide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular polysaccharide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
hyaluronan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
hyaluronan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
hyaluronan biosynthetic process TAS
Traceable Author Statement
more info
 
hyaluronan metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of fibroblast migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
pathogenesis TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
hyaluronan synthase 1
Names
hyaluronan synthase 1
HA synthase 1
hyaluronate synthase 1
hyaluronic acid synthase 1
NP_001514.2

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)

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

    See proteins identical to 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
    D2N2G5
    UniProtKB/TrEMBL
    G3V1S7
    UniProtKB/TrEMBL
    Q8IYH3
    Conserved Domains (2) summary
    TIGR04242
    Location:51487
    glycosyl_transferase_family_2; chitooligosaccharide synthase NodC
    cl11394
    Location:95385
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. NM_001523.3NP_001514.2  hyaluronan synthase 1 isoform 1

    See proteins identical to 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/TrEMBL
    D2N2G5
    UniProtKB/TrEMBL
    Q8IYH3
    UniProtKB/Swiss-Prot
    Q92839
    Related
    ENSP00000222115, OTTHUMP00000271875, ENST00000222115, OTTHUMT00000466953
    Conserved Domains (2) summary
    TIGR04242
    Location:52488
    glycosyl_transferase_family_2; chitooligosaccharide synthase NodC
    cl11394
    Location:96386
    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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    51713112..51723986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258834.1XP_005258891.1  

    Related
    ENSP00000445021, OTTHUMP00000271846, ENST00000540069, OTTHUMT00000466902
    Conserved Domains (2) summary
    TIGR04242
    Location:51487
    glycosyl_transferase_family_2; chitooligosaccharide synthase NodC
    cl11394
    Location:95385
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    52218163..52229047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    48547305..48558022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)