• Gene id: 51575

Gene Summary

• Gene Symbol: ESF1   Gene   UCSC   Ensembl
• Aliases: ABTAP, C20orf6, HDCMC28P, bA526K24.1
• Gene name: ESF1 nucleolar pre-rRNA processing protein homolog
• Alternate names: ESF1 homolog, ABT1-associated protein,
• Gene location: 20p12.1 (37976646: 37949571)     Exons: 13     NC_000010.11
• OMIM: 618765

Protein Summary

• Protein general information: Q9H501  
  • Name: ESF1 homolog (ABT1 associated protein)
  • Length: 851  
  • Mass: 98796
• Sequence:

  MSSKQEIMSDQRFRRVAKDPRFWEMPEKDRKVKIDKRFRAMFHDKKFKLNYAVDKRGRPISHSTTEDLKRFYDLS
  DSDSNLSGEDSKALSQKKIKKKKTQTKKEIDSKNLVEKKKETKKANHKGSENKTDLDNSIGIKKMKTSCKFKIDS
  NISPKKDSKEFTQKNKKEKKNIVQHTTDSSLEEKQRTLDSGTSEIVKSPRIECSKTRREMQSVVQLIMTRDSDGY
  ENSTDGEMCDKDALEEDSESVSEIGSDEESENEITSVGRASGDDDGSEDDEEEDEDEEEDEDEDSEDDDKSDSGP
  DLARGKGNIETSSEDEDDTADLFPEESGFEHAWRELDKDAPRADEITRRLAVCNMDWDRLKAKDLLALFNSFKPK
  GGVIFSVKIYPSEFGKERMKEEQVQGPVELLSIPEDAPEKDWTSREKLRDYQFKRLKYYYAVVDCDSPETASKIY
  EDCDGLEFESSCSFIDLRFIPDDITFDDEPKDVASEVNLTAYKPKYFTSAAMGTSTVEITWDETDHERITMLNRK
  FKKEELLDMDFQAYLASSSEDEEEIEEELQGDDGVNVEEDGKTKKSQKDDEEQIAKYRQLLQVIQEKEKKGKEND
  MEMEIKWVPGLKESAEEMVKNKLEGKDKLTPWEQFLEKKKEKKRLKRKQKALAEEASEEELPSDVDLNDPYFAEE
  VKQIGINKKSVKSAKDGTSPEEEIEIERQKAEMALLMMDEDEDSKKHFNYNKIVEHQNLSKKKKKQLMKKKELIE
  DDFEVNVNDARFQAMYTSHLFNLDPSDPNFKKTKAMEKILEEKARQRERKEQELTQAIKKKESEIEKESQRKSID
  PALSMLIKSIKTKTEQFQARKKQKVK

• Structural information:
  • Interpro: IPR039754  IPR012580  
  • STRING: ENSP00000202816
• Other Databases: GeneCards:  ESF1  Malacards:  ESF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006364	rRNA processing	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
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)