• Gene id: 83543

Gene Summary

• Gene Symbol: AIF1L   Gene   UCSC   Ensembl
• Aliases: C9orf58, IBA2
• Gene name: allograft inflammatory factor 1 like
• Alternate names: allograft inflammatory factor 1-like, ionized calcium binding adapter molecule 2,
• Gene location: 9q34.12-q34.13 (46833200: 46886737)     Exons: 6     NC_000017.11

Protein Summary

• Protein general information: Q9BQI0  
  • Name: Allograft inflammatory factor 1 like (Ionized calcium binding adapter molecule 2)
  • Length: 150  
  • Mass: 17068
• Sequence:

  MSGELSNRFQGGKAFGLLKARQERRLAEINREFLCDQKYSDEENLPEKLTAFKEKYMEFDLNNEGEIDLMSLKRM
  MEKLGVPKTHLEMKKMISEVTGGVSDTISYRDFVNMMLGKRSAVLKLVMMFEGKANESSPKPVGPPPERDIASLP

• Structural information:
  • Protein Domains: (47..8-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (83..11-)
    (/note="EF-hand-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR028453  IPR042433  IPR011992  IPR002048  
  • Prosite: PS50222
  • PDB: 2JJZ 2VTG
  • PDBsum: 2JJZ 2VTG
• Other Databases: GeneCards:  AIF1L  Malacards:  AIF1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097178	ruffle assembly	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0042995	cell projection	IBA	cellular component
GO:0032587	ruffle membrane	IBA	colocalizes with
GO:0005509	calcium ion binding	IBA	molecular function
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0005884	actin filament	IBA	colocalizes with
GO:0051015	actin filament binding	IDA	molecular function
GO:0005884	actin filament	IDA	colocalizes with
GO:0005509	calcium ion binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Breast cancer	PMID:30233209
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq