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Gene id

199

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]

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: 16,703

Tissue specificity: Detected in T-lymphocytes and peripheral blood mononuclear cells. {ECO

Sequence

MSQTRDLQGGKAFGLLKAQQEERLDEINKQFLDDPKYSSDEDLPSKLEGFKEKYMEFDLNGNGDIDIMSLKRMLE
KLGVPKTHLELKKLIGEVSSGSGETFSYPDFLRMMLGKRSAILKMILMYEEKAREKEKPTGPPAKKAISELP

Structural information

Protein Domains	EF-hand (45-80) EF-hand (81-115) ({ECO:0000255\|PROSITE-ProRule:PRU00448}.-)
Interpro:	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 activatio n	NAS	biological_process
GO:0001891	phagocytic cup	ISS	cellular_component
GO:0001934	positive regulation of pr otein 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 ge ne expression	IEA	biological_process
GO:0014739	positive regulation of mu scle hyperplasia	IEA	biological_process
GO:0016601	Rac protein signal transd uction	ISS	biological_process
GO:0030027	lamellipodium	ISS	cellular_component
GO:0030041	actin filament polymeriza tion	IDA	biological_process
GO:0031668	cellular response to extr acellular stimulus	IEA	biological_process
GO:0032870	cellular response to horm one stimulus	IEA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043204	perikaryon	IEA	cellular_component
GO:0045429	positive regulation of ni tric oxide biosynthetic p rocess	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048662	negative regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048662	negative regulation of sm ooth muscle cell prolifer ation	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 ass embly	IDA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0051602	response to electrical st imulus	IEA	biological_process
GO:0071315	cellular response to morp hine	IEA	biological_process
GO:0071346	cellular response to inte rferon-gamma	ISS	biological_process
GO:0071346	cellular response to inte rferon-gamma	IEP	biological_process
GO:0071447	cellular response to hydr operoxide	IEA	biological_process
GO:0071672	negative regulation of sm ooth muscle cell chemotax is	IDA	biological_process
GO:0071673	positive regulation of sm ooth muscle cell chemotax is	IDA	biological_process
GO:0090026	positive regulation of mo nocyte 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 activatio n	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 pr otein 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 ge ne expression	IEA	biological_process
GO:0014739	positive regulation of mu scle hyperplasia	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016601	Rac protein signal transd uction	IEA	biological_process
GO:0016601	Rac protein signal transd uction	ISS	biological_process
GO:0030027	lamellipodium	IEA	cellular_component
GO:0030027	lamellipodium	ISS	cellular_component
GO:0030041	actin filament polymeriza tion	IDA	biological_process
GO:0030335	positive regulation of ce ll migration	IEA	biological_process
GO:0031668	cellular response to extr acellular stimulus	IEA	biological_process
GO:0032587	ruffle membrane	IEA	cellular_component
GO:0032587	ruffle membrane	IEA	cellular_component
GO:0032870	cellular response to horm one 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 ap optotic process	IEA	biological_process
GO:0043204	perikaryon	IEA	cellular_component
GO:0045429	positive regulation of ni tric oxide biosynthetic p rocess	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IEA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048662	negative regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048662	negative regulation of sm ooth muscle cell prolifer ation	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 ass embly	IEA	biological_process
GO:0051017	actin filament bundle ass embly	IDA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0051602	response to electrical st imulus	IEA	biological_process
GO:0071315	cellular response to morp hine	IEA	biological_process
GO:0071346	cellular response to inte rferon-gamma	IEA	biological_process
GO:0071346	cellular response to inte rferon-gamma	ISS	biological_process
GO:0071346	cellular response to inte rferon-gamma	IEP	biological_process
GO:0071447	cellular response to hydr operoxide	IEA	biological_process
GO:0071672	negative regulation of sm ooth muscle cell chemotax is	IDA	biological_process
GO:0071673	positive regulation of sm ooth muscle cell chemotax is	IDA	biological_process
GO:0090026	positive regulation of mo nocyte 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 activatio n	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 transd uction	ISS	biological_process
GO:0030027	lamellipodium	ISS	cellular_component
GO:0030041	actin filament polymeriza tion	IDA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048662	negative regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0048662	negative regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0051015	actin filament binding	IDA	molecular_function
GO:0051015	actin filament binding	IDA	molecular_function
GO:0051017	actin filament bundle ass embly	IDA	biological_process
GO:0071346	cellular response to inte rferon-gamma	ISS	biological_process
GO:0071346	cellular response to inte rferon-gamma	IEP	biological_process
GO:0071672	negative regulation of sm ooth muscle cell chemotax is	IDA	biological_process
GO:0071673	positive regulation of sm ooth muscle cell chemotax is	IDA	biological_process
GO:0090026	positive regulation of mo nocyte 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

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19204726
Arthritis	PMID: 18721278
Diabetes	PMID: 12559634
Endometriosis	PMID: 15507512
Multiple sclerosis	PMID: 17660530
Non-obstructive azoospermia (NOA)	PMID: 26162009
Systemic lupus erythematosus	PMID: 19851445
Endometriosis	INFBASE15507512

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
15507512	Endometrio sis						Show abstract