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The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
IL1A (Interleukin 1 Alpha) is a Protein Coding gene. Diseases associated with IL1A include Arthritis and Cholesteatoma Of Middle Ear. Among its related pathways are NF-KappaB Family Pathway and Diseases associated with the TLR signaling cascade. Gene Ontology (GO) annotations related to this gene include cytokine activity and interleukin-1 receptor binding.
Cytokines are proteinaceous signaling compounds that are major mediators of the immune response. They control many different cellular functions including proliferation, differentiation and cell survival/apoptosis but are also involved in several pathophysiological processes.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005125 | cytokine activity | IMP | 2989698 |
GO:0005149 | interleukin-1 receptor binding | IEA | -- |
GO:0005507 | copper ion binding | IDA | 12746488 |
GO:0005515 | protein binding | IPI | 12746488 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | TAS,IMP | 3493774 |
GO:0005829 | cytosol | IDA | 12746488 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
|
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
|
2 | TGF-Beta Pathway |
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
|
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.41
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
|
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
|
4 | IL-1 signaling pathway | ||
5 | Allograft rejection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001660 | fever generation | IEA | -- |
GO:0002248 | connective tissue replacement involved in inflammatory response wound healing | IEA | -- |
GO:0002437 | inflammatory response to antigenic stimulus | IBA | -- |
GO:0006915 | apoptotic process | TAS | 1924307 |
GO:0006954 | inflammatory response | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Rilonacept | Approved, Investigational | Pharma | Target, binder | 25 | ||
Olanzapine | Approved, Investigational | Pharma | Antagonist, Agonist, Full agonist, Inverse agonist | 442 | ||
Pirfenidone | Approved, Investigational | Pharma | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 86 | ||
Thalidomide | Approved, Investigational, Withdrawn | Pharma | Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents | 429 | ||
AMG-108 | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
AS 101 |
|
106566-58-9 |
|
|||
GIT 27 |
|
6501-72-0 |
|
|
Compound | Action | Cas Number |
---|---|---|
AS 101 | Immunomodulator; inhibits IL-10 synthesis and potentiates IL-1alpha, IL-2 and TNF-alpha release | 106566-58-9 |
GIT 27 | Immunomodulator; reduces production of pro-inflammatory cytokines | 6501-72-0 |
Pirfenidone | Antifibrotic agent; regulates cytokine levels in vivo | 53179-13-8 |
Thalidomide | TNF-alpha synthesis inhibitor | 50-35-1 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IL1A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IL1A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IL1A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Il1a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Il1a 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IL1A 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
740365 | Likely Benign: not provided | 112,779,527(-) | C/T | SYNONYMOUS_VARIANT | |
775754 | Benign: not provided | 112,781,647(-) | G/A | SYNONYMOUS_VARIANT | |
780832 | Likely Benign: not provided | 112,779,613(-) | T/C | MISSENSE_VARIANT | |
791867 | Benign: not provided | 112,779,574(-) | C/T | MISSENSE_VARIANT | |
rs17561 | - | p.Ala114Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2518569 | CNV | deletion | 19546169 |
esv2720538 | CNV | deletion | 23290073 |
esv2720540 | CNV | deletion | 23290073 |
esv2720541 | CNV | deletion | 23290073 |
esv2720542 | CNV | deletion | 23290073 |
esv2720543 | CNV | deletion | 23290073 |
esv2720544 | CNV | deletion | 23290073 |
nsv1072437 | CNV | deletion | 25765185 |
nsv1144910 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
arthritis |
|
|
cholesteatoma of middle ear |
|
|
irritant dermatitis |
|
|
bacterial vaginosis |
|
|
rheumatoid arthritis |
|