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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]
AIF1 (Allograft Inflammatory Factor 1) is a Protein Coding gene. Diseases associated with AIF1 include Ectodermal Dysplasia 1, Hypohidrotic, X-Linked and Creutzfeldt-Jakob Disease. Among its related pathways are Spinal Cord Injury. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is AIF1L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0003779 | actin binding | IEA | -- |
GO:0005509 | calcium ion binding | IBA,ISS | 17011575 |
GO:0046872 | metal ion binding | IEA | -- |
GO:0051015 | actin filament binding | IDA | 16049345 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | ISS | -- |
GO:0001891 | phagocytic cup | ISS | -- |
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005829 | cytosol | IDA | 22116621 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Spinal Cord Injury |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001774 | microglial cell activation | NAS | 17011575 |
GO:0001934 | positive regulation of protein phosphorylation | IEA | -- |
GO:0006911 | phagocytosis, engulfment | ISS | -- |
GO:0006954 | inflammatory response | NAS | 7769138 |
GO:0008284 | positive regulation of cell proliferation | IDA | 19745784 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AIF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AIF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Aif1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AIF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aif1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2736182 | - | p.Gly14Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10403n54 | CNV | loss | 21841781 |
dgv10404n54 | CNV | loss | 21841781 |
nsv1073969 | CNV | deletion | 25765185 |
nsv1112900 | CNV | deletion | 24896259 |
nsv1126749 | CNV | deletion | 24896259 |
nsv1161370 | CNV | deletion | 26073780 |
nsv462871 | CNV | loss | 19166990 |
nsv601942 | CNV | loss | 21841781 |
nsv830627 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ectodermal dysplasia 1, hypohidrotic, x-linked |
|
|
creutzfeldt-jakob disease |
|
|
demyelinating polyneuropathy |
|
|
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive |
|
|
nonarteritic anterior ischemic optic neuropathy |
|
|