• Gene id: 51380

Gene Summary

• Gene Symbol: CSAD   Gene   UCSC   Ensembl
• Aliases: CSD, PCAP
• Gene name: cysteine sulfinic acid decarboxylase
• Alternate names: cysteine sulfinic acid decarboxylase, P-selectin cytoplasmic tail-associated protein, aspartate 1-decarboxylase, cysteine sulfinic acid decarboxylase-related protein, cysteine-sulfinate decarboxylase, sulfinoalanine decarboxylase,
• Gene location: 12q13.13 (53181662: 53157662)     Exons: 23     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaur
• OMIM: 616569

Protein Summary

• Protein general information: Q9Y600  
  • Name: Cysteine sulfinic acid decarboxylase (EC 4.1.1.29) (Aspartate 1 decarboxylase) (EC 4.1.1.11) (Cysteine sulfinate decarboxylase) (Sulfinoalanine decarboxylase)
  • Length: 493  
  • Mass: 55023
  • Tissue specificity: Expressed in liver and brain. Also expressed in both astrocytes and neurons, but lower levels are expressed in astrocytes. {ECO
• Sequence:

  MADSEALPSLAGDPVAVEALLRAVFGVVVDEAIQKGTSVSQKVCEWKEPEELKQLLDLELRSQGESQKQILERCR
  AVIRYSVKTGHPRFFNQLFSGLDPHALAGRIITESLNTSQYTYEIAPVFVLMEEEVLRKLRALVGWSSGDGIFCP
  GGSISNMYAVNLARYQRYPDCKQRGLRTLPPLALFTSKECHYSIQKGAAFLGLGTDSVRVVKADERGKMVPEDLE
  RQIGMAEAEGAVPFLVSATSGTTVLGAFDPLEAIADVCQRHGLWLHVDAAWGGSVLLSQTHRHLLDGIQRADSVA
  WNPHKLLAAGLQCSALLLQDTSNLLKRCHGSQASYLFQQDKFYDVALDTGDKVVQCGRRVDCLKLWLMWKAQGDQ
  GLERRIDQAFVLARYLVEEMKKREGFELVMEPEFVNVCFWFVPPSLRGKQESPDYHERLSKVAPVLKERMVKEGS
  MMIGYQPHGTRGNFFRVVVANSALTCADMDFLLNELERLGQDL

• Structural information:
  • Interpro: IPR002129  IPR015424  IPR015421  
  • PDB: 2JIS
  • PDBsum: 2JIS
  • STRING: ENSP00000267085
• Other Databases: GeneCards:  CSAD  Malacards:  CSAD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0019752	carboxylic acid metabolic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0004782	sulfinoalanine decarboxylase activity	IEA	molecular function
GO:0004068	aspartate 1-decarboxylase activity	IEA	molecular function
GO:0004782	sulfinoalanine decarboxylase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0019449	L-cysteine catabolic process to hypotaurine	IEA	biological process
GO:0019452	L-cysteine catabolic process to taurine	IEA	biological process
GO:0042412	taurine biosynthetic process	IEA	biological process
GO:0042412	taurine biosynthetic process	IEA	biological process
GO:0004782	sulfinoalanine decarboxylase activity	ISS	molecular function
GO:0019452	L-cysteine catabolic process to taurine	ISS	biological process
GO:0019449	L-cysteine catabolic process to hypotaurine	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00430	Taurine and hypotaurine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
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