• Gene id: 1446

Gene Summary

• Gene Symbol: CSN1S1   Gene   UCSC   Ensembl
• Aliases: CASA, CSN1
• Gene name: casein alpha s1
• Alternate names: alpha-S1-casein, casein, alpha,
• Gene location: 4q13.3 (69931061: 69946573)     Exons: 16     NC_000004.12
• OMIM: 115450

Protein Summary

• Protein general information: P47710  
  • Name: Alpha S1 casein [Cleaved into: Casoxin D]
  • Length: 185  
  • Mass: 21671
  • Tissue specificity: Mammary gland specific. Secreted in milk.
• Sequence:

  MRLLILTCLVAVALARPKLPLRYPERLQNPSESSEPIPLESREEYMNGMNRQRNILREKQTDEIKDTRNESTQNC
  VVAEPEKMESSISSSSEEMSLSKCAEQFCRLNEYNQLQLQAAHAQEQIRRMNENSHVQVPFQQLNQLAAYPYAVW
  YYPQIMQYVPFPPFSDISNPTAHENYEKNNVMLQW

• Structural information:
  • Interpro: IPR026999  IPR031305  
  • Prosite: PS00306
  • STRING: ENSP00000246891
• Other Databases: GeneCards:  CSN1S1  Malacards:  CSN1S1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903494	response to dehydroepiandrosterone	IBA	biological process
GO:0032570	response to progesterone	IBA	biological process
GO:0032355	response to estradiol	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:1903496	response to 11-deoxycorticosterone	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
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)