• Gene id: 150209

Gene Summary

• Gene Symbol: AIFM3   Gene   UCSC   Ensembl
• Aliases: AIFL
• Gene name: apoptosis inducing factor mitochondria associated 3
• Alternate names: apoptosis-inducing factor 3, apoptosis-inducing factor like, apoptosis-inducing factor, mitochondrion-associated, 3,
• Gene location: 22q11.21 (20965171: 20981357)     Exons: 22     NC_000022.11
• OMIM: 613499

Protein Summary

• Protein general information: Q96NN9  
  • Name: Apoptosis inducing factor 3 (EC 1. . . ) (Apoptosis inducing factor like protein)
  • Length: 605  
  • Mass: 66791
  • Tissue specificity: Ubiquitous. Expressed in bone marrow, cerebral cortex, liver, ovary, thymus, thyroid gland and tongue (at protein level). {ECO
• Sequence:

  MGGCFSKPKPVELKIEVVLPEKERGKEELSASGKGSPRAYQGNGTARHFHTEERLSTPHPYPSPQDCVEAAVCHV
  KDLENGQMREVELGWGKVLLVKDNGEFHALGHKCPHYGAPLVKGVLSRGRVRCPWHGACFNISTGDLEDFPGLDS
  LHKFQVKIEKEKVYVRASKQALQLQRRTKVMAKCISPSAGYSSSTNVLIVGAGAAGLVCAETLRQEGFSDRIVLC
  TLDRHLPYDRPKLSKSLDTQPEQLALRPKEFFRAYGIEVLTEAQVVTVDVRTKKVVFKDGFKLEYSKLLLAPGSS
  PKTLSCKGKEVENVFTIRTPEDANRVVRLARGRNVVVVGAGFLGMEVAAYLTEKAHSVSVVELEETPFRRFLGER
  VGRALMKMFENNRVKFYMQTEVSELRGQEGKLKEVVLKSSKVVRADVCVVGIGAVPATGFLRQSGIGLDSRGFIP
  VNKMMQTNVPGVFAAGDAVTFPLAWRNNRKVNIPHWQMAHAQGRVAAQNMLAQEAEMSTVPYLWTAMFGKSLRYA
  GYGEGFDDVIIQGDLEELKFVAFYTKGDEVIAVASMNYDPIVSKVAEVLASGRAIRKREVELFVLHSKTGDMSWL
  TGKGS

• Structural information:
  • Protein Domains: (70..16-)
    (/note="Rieske-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00628"-)
  • Interpro: IPR036188  IPR023753  IPR016156  IPR028202  IPR017941   IPR036922  
  • Prosite: PS51296
  • PDB: 5O9V
  • PDBsum: 5O9V
  • STRING: ENSP00000382120
• Other Databases: GeneCards:  AIFM3  Malacards:  AIFM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0097194	execution phase of apoptosis	IDA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq