• Gene id: 22856

Gene Summary

• Gene Symbol: CHSY1   Gene   UCSC   Ensembl
• Aliases: CHSY, CSS1, ChSy-1, TPBS
• Gene name: chondroitin sulfate synthase 1
• Alternate names: chondroitin sulfate synthase 1, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1, N-acetylgalactosaminyltransferase II, carbohydrate synthase 1, chondroitin glucuronyltransferase 1, chondroitin glucuronyltransferase II, chondroitin synthase ,
• Gene location: 15q26.3 (101252047: 101175726)     Exons: 7     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosami
• OMIM: 608183

Protein Summary

• Protein general information: Q86X52  
  • Name: Chondroitin sulfate synthase 1 (EC 2.4.1.175) (EC 2.4.1.226) (Chondroitin glucuronyltransferase 1) (Chondroitin synthase 1) (ChSy 1) (Glucuronosyl N acetylgalactosaminyl proteoglycan 4 beta N acetylgalactosaminyltransferase 1) (N acetylgalactosaminyl prot
  • Length: 802  
  • Mass: 91784
  • Tissue specificity: Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocyte
• Sequence:

  MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGGARGDARGAQLWPPGS
  DPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFFSSEGSDTSVPIPVVPLRGVDDSYPPQKKSF
  MMLKYMHDHYLDKYEWFMRADDDVYIKGDRLENFLRSLNSSEPLFLGQTGLGTTEEMGKLALEPGENFCMGGPGV
  IMSREVLRRMVPHIGKCLREMYTTHEDVEVGRCVRRFAGVQCVWSYEMQQLFYENYEQNKKGYIRDLHNSKIHQA
  ITLHPNKNPPYQYRLHSYMLSRKISELRHRTIQLHREIVLMSKYSNTEIHKEDLQLGIPPSFMRFQPRQREEILE
  WEFLTGKYLYSAVDGQPPRRGMDSAQREALDDIVMQVMEMINANAKTRGRIIDFKEIQYGYRRVNPMYGAEYILD
  LLLLYKKHKGKKMTVPVRRHAYLQQTFSKIQFVEHEELDAQELAKRINQESGSLSFLSNSLKKLVPFQLPGSKSE
  HKEPKDKKINILIPLSGRFDMFVRFMGNFEKTCLIPNQNVKLVVLLFNSDSNPDKAKQVELMRDYRIKYPKADMQ
  ILPVSGEFSRALALEVGSSQFNNESLLFFCDVDLVFTTEFLQRCRANTVLGQQIYFPIIFSQYDPKIVYSGKVPS
  DNHFAFTQKTGFWRNYGFGITCIYKGDLVRVGGFDVSIQGWGLEDVDLFNKVVQAGLKTFRSQEVGVVHVHHPVF
  CDPNLDPKQYKMCLGSKASTYGSTQQLAEMWLEKNDPSYSKSSNNNGSVRTA

• Structural information:
  • Interpro: IPR008428  IPR029044  
  • STRING: ENSP00000254190
• Other Databases: GeneCards:  CHSY1  Malacards:  CHSY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IDA	cellular component
GO:0030279	negative regulation of ossification	IMP	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0030206	chondroitin sulfate biosynthetic process	IDA	biological process
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IDA	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:0031667	response to nutrient levels	IEA	biological process
GO:0060349	bone morphogenesis	IEA	biological process
GO:0051923	sulfation	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0030206	chondroitin sulfate biosynthetic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0002063	chondrocyte development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Temtamy preaxial brachydactyly syndrome	KEGG:H01497
Temtamy preaxial brachydactyly syndrome	KEGG:H01497
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq