• Gene id: 3036

Gene Summary

• Gene Symbol: HAS1   Gene   UCSC   Ensembl
• Aliases: HAS
• Gene name: hyaluronan synthase 1
• Alternate names: hyaluronan synthase 1, HA synthase 1, hyaluronate synthase 1, hyaluronic acid synthase 1,
• Gene location: 19q13.41 (51723990: 51713111)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 606532

Protein Summary

• Protein general information: Q92839  
  • Name: Hyaluronan synthase 1 (EC 2.4.1.212) (Hyaluronate synthase 1) (Hyaluronic acid synthase 1) (HA synthase 1) (HuHAS1)
  • Length: 578  
  • Mass: 64832
  • Tissue specificity: Widely expressed. Highly expressed in ovary followed by spleen, thymus, prostate, testes and large intestine. Weakly expressed in small intestine. {ECO
• Sequence:

  MRQQDAPKPTPAACRCSGLARRVLTIAFALLILGLMTWAYAAGVPLASDRYGLLAFGLYGAFLSAHLVAQSLFAY
  LEHRRVAAAARGPLDAATARSVALTISAYQEDPAYLRQCLASARALLYPRARLRVLMVVDGNRAEDLYMVDMFRE
  VFADEDPATYVWDGNYHQPWEPAAAGAVGAGAYREVEAEDPGRLAVEALVRTRRCVCVAQRWGGKREVMYTAFKA
  LGDSVDYVQVCDSDTRLDPMALLELVRVLDEDPRVGAVGGDVRILNPLDSWVSFLSSLRYWVAFNVERACQSYFH
  CVSCISGPLGLYRNNLLQQFLEAWYNQKFLGTHCTFGDDRHLTNRMLSMGYATKYTSRSRCYSETPSSFLRWLSQ
  QTRWSKSYFREWLYNALWWHRHHAWMTYEAVVSGLFPFFVAATVLRLFYAGRPWALLWVLLCVQGVALAKAAFAA
  WLRGCLRMVLLSLYAPLYMCGLLPAKFLALVTMNQSGWGTSGRRKLAANYVPLLPLALWALLLLGGLVRSVAHEA
  RADWSGPSRAAEAYHLAAGAGAYVGYWVAMLTLYWVGVRRLCRRRTGGYRVQV

• Structural information:
  • Interpro: IPR028385  IPR029044  
  • STRING: ENSP00000222115
• Other Databases: GeneCards:  HAS1  Malacards:  HAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030213	hyaluronan biosynthetic process	IBA	biological process
GO:0050501	hyaluronan synthase activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0045226	extracellular polysaccharide biosynthetic process	IBA	biological process
GO:0085029	extracellular matrix assembly	IBA	biological process
GO:0050501	hyaluronan synthase activity	ISS	molecular function
GO:0085029	extracellular matrix assembly	ISS	biological process
GO:0045226	extracellular polysaccharide biosynthetic process	ISS	biological process
GO:0030213	hyaluronan biosynthetic process	IEA	biological process
GO:0050501	hyaluronan synthase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0050501	hyaluronan synthase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0030213	hyaluronan biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044849	estrous cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045226	extracellular polysaccharide biosynthetic process	IEA	biological process
GO:0085029	extracellular matrix assembly	IEA	biological process
GO:0030213	hyaluronan biosynthetic process	IEA	biological process
GO:0050501	hyaluronan synthase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030213	hyaluronan biosynthetic process	IEA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IDA	biological process
GO:0010764	negative regulation of fibroblast migration	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R