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HAS3 hyaluronan synthase 3 [ Homo sapiens (human) ]

Gene ID: 3038, updated on 21-Dec-2019

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
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

Genomic context

See HAS3 in Genome Data Viewer
Location:
16q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (69105653..69118719)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69139467..69152622)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transport and golgi organization 6 homolog Neighboring gene deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial-like Neighboring gene ribosomal protein S2 pseudogene 45 Neighboring gene DERPC proline and glycine rich nuclear protein Neighboring gene chromosome transmission fidelity factor 8 Neighboring gene Sharpr-MPRA regulatory region 12307 Neighboring gene UTP4 small subunit processome component

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hyaluronan synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hyaluronan synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
extracellular polysaccharide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
hyaluronan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hyaluronan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
hyaluronan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
hyaluronan biosynthetic process TAS
Traceable Author Statement
more info
 
positive regulation of hyaluranon cable assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
hyaluranon cable IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
hyaluronan synthase 3
Names
HA synthase 3
hyaluronate synthase 3
hyaluronic acid synthase 3
NP_001186209.1
NP_005320.2
NP_619515.1
XP_005255978.1
XP_011521363.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_047056.1 RefSeqGene

    Range
    5090..17097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199280.2NP_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
    O00219
    Related
    ENSP00000454731.1, ENST00000569188.6
    Conserved Domains (1) summary
    cd06434
    Location:86364
    GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
  2. NM_005329.2NP_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
    O00219
    UniProtKB/TrEMBL
    Q96RV2
    Related
    ENSP00000304440.1, ENST00000306560.1
    Conserved Domains (1) summary
    cd06434
    Location:86364
    GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
  3. NM_138612.3NP_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/Swiss-Prot
    O00219
    Related
    ENSP00000219322.3, ENST00000219322.7
    Conserved Domains (1) summary
    cl11394
    Location:86247
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    69105653..69118719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255921.2XP_005255978.1  hyaluronan synthase 3 isoform X1

    See identical proteins and their annotated locations for XP_005255978.1

    UniProtKB/Swiss-Prot
    O00219
    Conserved Domains (1) summary
    cd06434
    Location:86364
    GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
  2. XM_011523061.2XP_011521363.1  hyaluronan synthase 3 isoform X1

    See identical proteins and their annotated locations for XP_011521363.1

    UniProtKB/Swiss-Prot
    O00219
    Conserved Domains (1) summary
    cd06434
    Location:86364
    GT2_HAS; Hyaluronan synthases catalyze polymerization of hyaluronan
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