• Gene id: 1676

Gene Summary

• Gene Symbol: DFFA   Gene   UCSC   Ensembl
• Aliases: DFF-45, DFF1, ICAD
• Gene name: DNA fragmentation factor subunit alpha
• Alternate names: DNA fragmentation factor subunit alpha, DFF45, DNA fragmentation factor 45 kDa subunit, DNA fragmentation factor, 45kDa, alpha polypeptide, inhibitor of CAD,
• Gene location: 1p36.22 (10472528: 10456521)     Exons: 6     NC_000001.11
• Gene summary(Entrez): Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal uni
• OMIM: 609305

Protein Summary

• Protein general information: O00273  
  • Name: DNA fragmentation factor subunit alpha (DNA fragmentation factor 45 kDa subunit) (DFF 45) (Inhibitor of CAD) (ICAD)
  • Length: 331  
  • Mass: 36522
• Sequence:

  MEVTGDAGVPESGEIRTLKPCLLRRNYSREQHGVAASCLEDLRSKACDILAIDKSLTPVTLVLAEDGTIVDDDDY
  FLCLPSNTKFVALASNEKWAYNNSDGGTAWISQESFDVDETDSGAGLKWKNVARQLKEDLSSIILLSEEDLQMLV
  DAPCSDLAQELRQSCATVQRLQHTLQQVLDQREEVRQSKQLLQLYLQALEKEGSLLSKQEESKAAFGEEVDAVDT
  GISRETSSDVALASHILTALREKQAPELSLSSQDLELVTKEDPKALAVALNWDIKKTETVQEACERELALRLQQT
  QSLHSLRSISASKASPPGDLQNPKRARQDPT

• Structural information:
  • Protein Domains: (17..9-)
    (/note="CIDE-N-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00447"-)
  • Interpro: IPR003508  IPR027296  IPR017299  IPR015121  
  • Prosite: PS51135
  • PDB: 1IBX 1IYR 1KOY
  • PDBsum: 1IBX 1IYR 1KOY
  • STRING: ENSP00000366237
• Other Databases: GeneCards:  DFFA  Malacards:  DFFA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900118	negative regulation of execution phase of apoptosis	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0006309	apoptotic DNA fragmentation	IEA	biological process
GO:0060703	deoxyribonuclease inhibitor activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:1902511	negative regulation of apoptotic DNA fragmentation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006309	apoptotic DNA fragmentation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0070242	thymocyte apoptotic process	IEA	biological process
GO:1902511	negative regulation of apoptotic DNA fragmentation	IEA	biological process
GO:1900118	negative regulation of execution phase of apoptosis	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0061077	chaperone-mediated protein folding	IMP	biological process
GO:0032076	negative regulation of deoxyribonuclease activity	IMP	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0060703	deoxyribonuclease inhibitor activity	IMP	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0044183	protein folding chaperone	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis

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