• Gene id: 1475

Gene Summary

• Gene Symbol: CSTA   Gene   UCSC   Ensembl
• Aliases: AREI, PSS4, STF1, STFA
• Gene name: cystatin A
• Alternate names: cystatin-A, cystatin A (stefin A), cystatin AS,
• Gene location: 3q21.1 (122325247: 122341968)     Exons: 3     NC_000003.12
• Gene summary(Entrez): The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory
• OMIM: 0

Protein Summary

• Protein general information: P01040  
  • Name: Cystatin A (Cystatin AS) (Stefin A) [Cleaved into: Cystatin A, N terminally processed]
  • Length: 98  
  • Mass: 11006
  • Tissue specificity: Expressed in the skin throughout the epidermis. {ECO
• Sequence:

  MIPGGLSEAKPATPEIQEIVDKVKPQLEEKTNETYGKLEAVQYKTQVVAGTNYYIKVRAGDNKYMHLKVFKSLPG
  QNEDLVLTGYQVDKNKDDELTGF

• Structural information:
  • Interpro: IPR000010  IPR018073  IPR001713  
  • Prosite: PS00287
  • CDD: cd00042
  • PDB: 1CYU 1CYV 1DVC 1DVD 1GD3 1GD4 1N9J 1NB3 1NB5 3K9M 3KFQ 3KSE
  • PDBsum: 1CYU 1CYV 1DVC 1DVD 1GD3 1GD4 1N9J 1NB3 1NB5 3K9M 3KFQ 3KSE
  • STRING: ENSP00000264474
• Other Databases: GeneCards:  CSTA  Malacards:  CSTA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004869	cysteine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0098609	cell-cell adhesion	IMP	biological process
GO:0004866	endopeptidase inhibitor activity	IEA	molecular function
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001533	cornified envelope	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004869	cysteine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0010466	negative regulation of peptidase activity	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0001533	cornified envelope	IDA	cellular component
GO:0045861	negative regulation of proteolysis	IDA	biological process
GO:0004869	cysteine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0030216	keratinocyte differentiation	IDA	biological process
GO:0018149	peptide cross-linking	IDA	biological process

Diseases

Associated diseases	References
Peeling skin syndrome	KEGG:H00737
Peeling skin syndrome	KEGG:H00737
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			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