• Gene id: 199

Gene Summary

• Gene Symbol: AIF1   Gene   UCSC   Ensembl
• Aliases: AIF-1, IBA1, IRT-1, IRT1
• Gene name: allograft inflammatory factor 1
• Alternate names: allograft inflammatory factor 1, interferon gamma responsive transcript, ionized calcium-binding adapter molecule 1, protein G1,
• Gene location: 6p21.33 (31615208: 31617024)     Exons: 6     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated wit
• OMIM: 601833

Protein Summary

• Protein general information: P55008  
  • Name: Allograft inflammatory factor 1 (AIF 1) (Ionized calcium binding adapter molecule 1) (Protein G1)
  • Length: 147  
  • Mass: 16703
  • Tissue specificity: Detected in T-lymphocytes and peripheral blood mononuclear cells. {ECO
• Sequence:

  MSQTRDLQGGKAFGLLKAQQEERLDEINKQFLDDPKYSSDEDLPSKLEGFKEKYMEFDLNGNGDIDIMSLKRMLE
  KLGVPKTHLELKKLIGEVSSGSGETFSYPDFLRMMLGKRSAILKMILMYEEKAREKEKPTGPPAKKAISELP

• Structural information:
  • Protein Domains: (45..8-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (81..11-)
    (/note="EF-hand-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR042433  IPR011992  IPR002048  
  • Prosite: PS50222
  • PDB: 2D58 2G2B
  • PDBsum: 2D58 2G2B
  • STRING: ENSP00000365227
• Other Databases: GeneCards:  AIF1  Malacards:  AIF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001774	microglial cell activation	NAS	biological process
GO:0001891	phagocytic cup	ISS	cellular component
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006911	phagocytosis, engulfment	ISS	biological process
GO:0006954	inflammatory response	ISS	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0014739	positive regulation of muscle hyperplasia	IEA	biological process
GO:0016601	Rac protein signal transduction	ISS	biological process
GO:0030027	lamellipodium	ISS	cellular component
GO:0030041	actin filament polymerization	IDA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0051017	actin filament bundle assembly	IDA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0071315	cellular response to morphine	IEA	biological process
GO:0071346	cellular response to interferon-gamma	ISS	biological process
GO:0071346	cellular response to interferon-gamma	IEP	biological process
GO:0071447	cellular response to hydroperoxide	IEA	biological process
GO:0071672	negative regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0071673	positive regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0090026	positive regulation of monocyte chemotaxis	IDA	biological process
GO:0097178	ruffle assembly	ISS	biological process
GO:0097178	ruffle assembly	NAS	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:2000406	positive regulation of T cell migration	IDA	biological process
GO:0005884	actin filament	IDA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0001774	microglial cell activation	NAS	biological process
GO:0001891	phagocytic cup	IEA	cellular component
GO:0001891	phagocytic cup	ISS	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005884	actin filament	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006911	phagocytosis, engulfment	IEA	biological process
GO:0006911	phagocytosis, engulfment	ISS	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0006954	inflammatory response	ISS	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0014739	positive regulation of muscle hyperplasia	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016601	Rac protein signal transduction	IEA	biological process
GO:0016601	Rac protein signal transduction	ISS	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0030041	actin filament polymerization	IDA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0051017	actin filament bundle assembly	IDA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0071315	cellular response to morphine	IEA	biological process
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0071346	cellular response to interferon-gamma	ISS	biological process
GO:0071346	cellular response to interferon-gamma	IEP	biological process
GO:0071447	cellular response to hydroperoxide	IEA	biological process
GO:0071672	negative regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0071673	positive regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0090026	positive regulation of monocyte chemotaxis	IDA	biological process
GO:0097178	ruffle assembly	IEA	biological process
GO:0097178	ruffle assembly	ISS	biological process
GO:0097178	ruffle assembly	NAS	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:2000406	positive regulation of T cell migration	IDA	biological process
GO:0005884	actin filament	IDA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:0001774	microglial cell activation	NAS	biological process
GO:0001891	phagocytic cup	ISS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006911	phagocytosis, engulfment	ISS	biological process
GO:0006954	inflammatory response	ISS	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0016601	Rac protein signal transduction	ISS	biological process
GO:0030027	lamellipodium	ISS	cellular component
GO:0030041	actin filament polymerization	IDA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0051017	actin filament bundle assembly	IDA	biological process
GO:0071346	cellular response to interferon-gamma	ISS	biological process
GO:0071346	cellular response to interferon-gamma	IEP	biological process
GO:0071672	negative regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0071673	positive regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0090026	positive regulation of monocyte chemotaxis	IDA	biological process
GO:0097178	ruffle assembly	ISS	biological process
GO:0097178	ruffle assembly	NAS	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:2000406	positive regulation of T cell migration	IDA	biological process
GO:0005884	actin filament	IDA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:2000778	positive regulation of interleukin-6 secretion	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0050921	positive regulation of chemotaxis	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0090197	positive regulation of chemokine secretion	IDA	biological process
GO:0090271	positive regulation of fibroblast growth factor production	IDA	biological process
GO:0034599	cellular response to oxidative stress	IDA	biological process
GO:0071677	positive regulation of mononuclear cell migration	IDA	biological process
GO:0001726	ruffle	ISS	cellular component
GO:0001891	phagocytic cup	ISS	cellular component
GO:0005884	actin filament	ISS	cellular component
GO:0010468	regulation of gene expression	HDA	biological process
GO:0030046	parallel actin filament bundle assembly	ISS	biological process
GO:0051764	actin crosslink formation	ISS	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0032587	ruffle membrane	IBA	colocalizes with
GO:0042995	cell projection	IBA	cellular component
GO:0051015	actin filament binding	IBA	molecular function
GO:0097178	ruffle assembly	IBA	biological process
GO:0005884	actin filament	IBA	colocalizes with
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0032587	ruffle membrane	IDA	colocalizes with
GO:0051017	actin filament bundle assembly	IDA	biological process
GO:0005884	actin filament	IDA	colocalizes with
GO:0005509	calcium ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0097178	ruffle assembly	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0030046	parallel actin filament bundle assembly	IEA	biological process
GO:0016601	Rac protein signal transduction	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0001891	phagocytic cup	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0071447	cellular response to hydroperoxide	IEA	biological process
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0034097	response to cytokine	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0014739	positive regulation of muscle hyperplasia	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0051764	actin crosslink formation	IEA	biological process
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0006911	phagocytosis, engulfment	IEA	biological process
GO:0005884	actin filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0071315	cellular response to morphine	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0090026	positive regulation of monocyte chemotaxis	IDA	biological process
GO:0071672	negative regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0030041	actin filament polymerization	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:2000406	positive regulation of T cell migration	IDA	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0071673	positive regulation of smooth muscle cell chemotaxis	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0097178	ruffle assembly	NAS	biological process
GO:0071346	cellular response to interferon-gamma	IEP	biological process
GO:0071346	cellular response to interferon-gamma	ISS	biological process
GO:0016601	Rac protein signal transduction	ISS	biological process
GO:0001891	phagocytic cup	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0006954	inflammatory response	NAS	biological process
GO:0006954	inflammatory response	ISS	biological process
GO:0006911	phagocytosis, engulfment	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0001774	microglial cell activation	NAS	biological process
GO:0097178	ruffle assembly	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005634	nucleus	ISS	cellular component

Diseases

Associated diseases	References
Cancer (lymphoma)	GAD: 20855536
Multiple sclerosis	GAD: 17660530
Systemic lupus erythematosus (SLE)	GAD: 19851445
Arthritis	GAD: 18721278
Diabetes	GAD: 12559634
Osteoarthritis	GAD: 18835879
Alzheimer's disease	GAD: 19204726
Abortion	GAD: 20587610
Endometriosis	INFBASE: 15507512
Female infertility	INFBASE: 15507512
Alzheimer's disease	PMID:16340083
Brain infarction	PMID:10683518
type 1 diabetes mellitus	PMID:18987644
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Maturation arrest	MIK: 26162009
Non- obstructive azoospermia	MIK: 26162009
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26162009	Non- obstructive azoospermia, maturation arrest			80 (12 men with preserved spermatogenesis, 68 men with nonobstructive azoospermia (NOA) (40 Sertoli-cell-only syndrome (SCOS) and 28 premiotic maturation arrest (MA)))	Male infertility	USP9Y DDX3Y XKRY HSFY1 CYORF15A CYORF15B KDM5D EIF1AY RPS4Y2 RBMY1A1 PRY BPY2 DAZ1 and CDY1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881