• Gene id: 337876

Gene Summary

• Gene Symbol: CHSY3   Gene   UCSC   Ensembl
• Aliases: CHSY2, CSS3
• Gene name: chondroitin sulfate synthase 3
• Alternate names: chondroitin sulfate synthase 3, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3, N-acetylgalactosaminyltransferase 3, carbohydrate synthase 2, chSy-2, chondroitin glucuronyltransferase 3, chondroitin synthase-2, glucuronosyl-N-acetylgalactos,
• Gene location: 5q23.3 (129903383: 130186636)     Exons: 38     NC_000005.10
• Gene summary(Entrez): CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]
• OMIM: 609963

Protein Summary

• Protein general information: Q70JA7  
  • Name: Chondroitin sulfate synthase 3 (EC 2.4.1.175) (EC 2.4.1.226) (Carbohydrate synthase 2) (Chondroitin glucuronyltransferase 3) (Chondroitin synthase 2) (ChSy 2) (Glucuronosyl N acetylgalactosaminyl proteoglycan 4 beta N acetylgalactosaminyltransferase II) (
  • Length: 882  
  • Mass: 100284
  • Tissue specificity: Detected at low levels in brain, cerebral cortex, uterus and small intestine. {ECO
• Sequence:

  MAVRSRRPWMSVALGLVLGFTAASWLIAPRVAELSERKRRGSSLCSYYGRSAAGPRAGAQQPLPQPQSRPRQEQS
  PPPARQDLQGPPLPEAAPGITSFRSSPWQQPPPLQQRRRGREPEGATGLPGAPAAEGEPEEEDGGAAGQRRDGRP
  GSSHNGSGDGGAAAPSARPRDFLYVGVMTAQKYLGSRALAAQRTWARFIPGRVEFFSSQQPPNAGQPPPPLPVIA
  LPGVDDSYPPQKKSFMMIKYMHDHYLDKYEWFMRADDDVYIKGDKLEEFLRSLNSSKPLYLGQTGLGNIEELGKL
  GLEPGENFCMGGPGMIFSREVLRRMVPHIGECLREMYTTHEDVEVGRCVRRFGGTQCVWSYEMQQLFHENYEHNR
  KGYIQDLHNSKIHAAITLHPNKRPAYQYRLHNYMLSRKISELRYRTIQLHRESALMSKLSNTEVSKEDQQLGVIP
  SFNHFQPRERNEVIEWEFLTGKLLYSAAENQPPRQSLSSILRTALDDTVLQVMEMINENAKSRGRLIDFKEIQYG
  YRRVNPMHGVEYILDLLLLYKRHKGRKLTVPVRRHAYLQQLFSKPFFRETEELDVNSLVESINSETQSFSFISNS
  LKILSSFQGAKEMGGHNEKKVHILVPLIGRYDIFLRFMENFENMCLIPKQNVKLVIILFSRDSGQDSSKHIELIK
  GYQNKYPKAEMTLIPMKGEFSRGLGLEMASAQFDNDTLLLFCDVDLIFREDFLQRCRDNTIQGQQVYYPIIFSQY
  DPKVTNGGNPPTDDYFIFSKKTGFWRDYGYGITCIYKSDLLGAGGFDTSIQGWGLEDVDLYNKVILSGLRPFRSQ
  EVGVVHIFHPVHCDPNLDPKQYKMCLGSKASTFASTMQLAELWLEKHLGVRYNRTLS

• Structural information:
  • Interpro: IPR008428  IPR029044  
  • STRING: ENSP00000302629
• Other Databases: GeneCards:  CHSY3  Malacards:  CHSY3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0030206	chondroitin sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)