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Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]
AZU1 (Azurocidin 1) is a Protein Coding gene. Diseases associated with AZU1 include Erysipelas and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. Among its related pathways are Innate Immune System and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and toxic substance binding. An important paralog of this gene is CTSG.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH19J000823 | Promoter/Enhancer | 2 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas | 273.1 | -1.1 | -1096 | 1.6 | TBP IKZF1 SMAD5 MBD2 NONO CEBPB ZNF395 VEZF1 NBN RUNX1 | AZU1 PLPPR3 HSALNG0122934 HSALNG0122935 PRTN3 ELANE PTBP1 PRSS57 BSG | |
GH19J000821 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 250.7 | -3.4 | -3396 | 2.6 | IKZF1 NONO VEZF1 ADNP PRDM10 SUPT5H MLLT1 ZNF48 ZNF589 ZNF148 | AZU1 HSALNG0122934 HSALNG0122935 PLPPR3 lnc-MED16-3 MN298678-035 PTBP1 | |
GH19J000827 | Promoter | 1.1 | EPDnew Ensembl | 250.7 | +2.9 | 2904 | 0.8 | SPI1 CBX1 PTBP1 POLR2A ZBTB33 REST ZFP36 ZMYM3 ZNF768 KDM1A | AZU1 HSALNG0122936 PRTN3 | |
GH19J000839 | Promoter | 0.4 | Ensembl | 0.4 | +14.4 | 14404 | 0.2 | CEBPB | PRTN3 RF00017-2717 AZU1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004252 | serine-type endopeptidase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 11994286 |
GO:0008201 | heparin binding | IMP | 11994286 |
GO:0008233 | peptidase activity | IDA | 21550830 |
GO:0015643 | toxic substance binding | NAS | 10534120 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 15879141 |
GO:0016020 | membrane | IEA | -- |
GO:0019898 | extrinsic component of membrane | IDA | 2312733 |
GO:0035577 | azurophil granule membrane | IDA | 2312733 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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2 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001774 | microglial cell activation | IEP | 12465046 |
GO:0006508 | proteolysis | IDA | 21550830 |
GO:0006935 | chemotaxis | IEA | -- |
GO:0006954 | inflammatory response | NAS | 12678126 |
GO:0007205 | protein kinase C-activating G protein-coupled receptor signaling pathway | TAS | 12465046 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Heparin | Approved, Investigational | Pharma | 1141 | |||
1,1'-HEXANE-1,6-DIYLBIS(1H-IMIDAZOLE) | Experimental | Pharma | Target | 0 | ||
4,7-Dimethyl-[1,10]Phenanthroline | Experimental | Pharma | Target | 0 | ||
Bis(N-maleimidomethyl)ether | Experimental | Pharma | Target | 0 | ||
lambda-bis(2,2'-bipyridine)imidazole osmium (II) | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AZU1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AZU1 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs372854624 | Benign: not provided | 831,815(+) |
GT/G NM_001700.5(AZU1):c.695del (p.Val232fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv134n111 | CNV | deletion | 26073780 |
esv2668045 | CNV | deletion | 23128226 |
esv2717794 | CNV | deletion | 23290073 |
esv2743058 | CNV | deletion | 23290073 |
nsv1148551 | CNV | insertion | 26484159 |
nsv458321 | CNV | loss | 19166990 |
nsv470101 | CNV | loss | 18288195 |
nsv578167 | CNV | loss | 21841781 |
nsv578172 | CNV | loss | 21841781 |
nsv953938 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
erysipelas |
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camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
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dacryocystitis |
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acute inflammation of lacrimal passage |
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coxa vara |
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