• Gene id: 64921

Gene Summary

• Gene Symbol: CASD1   Gene   UCSC   Ensembl
• Aliases: C7orf12, NBLA04196, SOAT
• Gene name: CAS1 domain containing 1
• Alternate names: N-acetylneuraminate 9-O-acetyltransferase, CAS1 domain-containing protein 1, O-acetyltransferase, WUGSC:H_GS542D18.2, sialate O-acetyltransferase,
• Gene location: 7q21.3 (94509808: 94633464)     Exons: 21     NC_000007.14

Protein Summary

• Protein general information: Q96PB1  
  • Name: N acetylneuraminate 9 O acetyltransferase (EC 2.3.1.45) (CAS1 domain containing protein 1) (Sialate O acetyltransferase) (SOAT)
  • Length: 797  
  • Mass: 91680
  • Tissue specificity: Highly expressed in peripheral B lymphocytes. {ECO
• Sequence:

  MAALAYNLGKREINHYFSVRSAKVLALVAVLLLAACHLASRRYRGNDSCEYLLSSGRFLGEKVWQPHSCMMHKYK
  ISEAKNCLVDKHIAFIGDSRIRQLFYSFVKIINPQFKEEGNKHENIPFEDKTASVKVDFLWHPEVNGSMKQCIKV
  WTEDSIAKPHVIVAGAATWSIKIHNGSSEALSQYKMNITSIAPLLEKLAKTSDVYWVLQDPVYEDLLSENRKMIT
  NEKIDAYNEAAVSILNSSTRNSKSNVKMFSVSKLIAQETIMESLDGLHLPESSRETTAMILMNVYCNKILKPVDG
  SCCQPRPPVTLIQKLAACFFTLSIIGYLIFYIIHRNAHRKNKPCTDLESGEEKKNIINTPVSSLEILLQSFCKLG
  LIMAYFYMCDRANLFMKENKFYTHSSFFIPIIYILVLGVFYNENTKETKVLNREQTDEWKGWMQLVILIYHISGA
  STFLPVYMHIRVLVAAYLFQTGYGHFSYFWIKGDFGIYRVCQVLFRLNFLVVVLCIVMDRPYQFYYFVPLVTVWF
  MVIYVTLALWPQIIQKKANGNCFWHFGLLLKLGFLLLFICFLAYSQGAFEKIFSLWPLSKCFELKGNVYEWWFRW
  RLDRYVVFHGMLFAFIYLALQKRQILSEGKGEPLFSNKISNFLLFISVVSFLTYSIWASSCKNKAECNELHPSVS
  VVQILAFILIRNIPGYARSVYSSFFAWFGKISLELFICQYHIWLAADTRGILVLIPGNPMLNIIVSTFIFVCVAH
  EISQITNDLAQIIIPKDNSSLLKRLACIAAFFCGLLILSSIQDKSKH

• Structural information:
  • Interpro: IPR012419  IPR036915  
  • STRING: ENSP00000297273
• Other Databases: GeneCards:  CASD1  Malacards:  CASD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0016407	acetyltransferase activity	IBA	molecular function
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0047186	N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity	IBA	molecular function
GO:0047186	N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity	IDA	molecular function
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0005975	carbohydrate metabolic process	IDA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0047186	N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881