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This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
TNFAIP3 (TNF Alpha Induced Protein 3) is a Protein Coding gene. Diseases associated with TNFAIP3 include Autoinflammatory Syndrome, Familial, Behcet-Like and Iridocyclitis. Among its related pathways are 14-3-3 and Regulation of BAD Activity and TNF signaling (REACTOME). Gene Ontology (GO) annotations related to this gene include ligase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is OTUD7B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 18223652 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004842 | ubiquitin-protein transferase activity | IDA | 15258597 |
GO:0004843 | thiol-dependent ubiquitin-specific protease activity | TAS | 20392859 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 11463333 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005764 | lysosome | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | TNF signaling (REACTOME) |
.86
|
|
2 | Measles |
.35
|
|
3 | 4-1BB Pathway |
CD40 Signaling
.54
|
TNFR2 Pathway
.37
|
4 | TNFR1 Pathway |
TNFR1 Pathway
.56
|
|
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001922 | B-1 B cell homeostasis | ISS | -- |
GO:0002237 | response to molecule of bacterial origin | IEA,IDA | 19912257 |
GO:0002634 | regulation of germinal center formation | ISS,IEA | -- |
GO:0002677 | negative regulation of chronic inflammatory response | IEA | -- |
GO:0006508 | proteolysis | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | · | 3f | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 13c |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TNFAIP3 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | TNFAIP3 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | TNFAIP3 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Tnfaip3 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Tnfaip3 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | TNFAIP3 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | TNFAIP3 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | TNFAIP3 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | TNFAIP3 33 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | tnfaip3 33 32 |
|
OneToOne |
SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2230926 | not-provided, not specified, - | 137,874,929(+) | T/C/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs5029941 | uncertain-significance, not specified, - | 137,874,923(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs864321625 | pathogenic, Autoinflammatory syndrome, familial, Behcet-like | 137,876,041(+) | T/A | coding_sequence_variant, stop_gained | |
rs864321626 | pathogenic, Autoinflammatory syndrome, familial, Behcet-like, not provided | 137,877,081(+) | C/T | coding_sequence_variant, stop_gained | |
rs864321682 | pathogenic, Autoinflammatory syndrome, familial, Behcet-like | 137,876,030(+) | TTT/TT | coding_sequence_variant, frameshift |
Disorder | Aliases | PubMed IDs |
---|---|---|
autoinflammatory syndrome, familial, behcet-like |
|
|
iridocyclitis |
|
|
autoinflammatory syndrome |
|
|
primary mediastinal b-cell lymphoma |
|
|
marginal zone b-cell lymphoma |
|
|