AZU1 Gene (Protein Coding)

Azurocidin 1

GC19P000825
GIFtS:
41
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. T... See more...

Aliases for AZU1 Gene

Aliases for AZU1 Gene

  • Azurocidin 1 2 3 5
  • Heparin-Binding Protein 2 3 4
  • HBP 2 3 4
  • Cationic Antimicrobial Protein CAP37 3 4
  • Cationic Antimicrobial Protein 37 2 3
  • Neutrophil Azurocidin 2 3
  • Azurocidin 3 4
  • HUMAZUR 2 3
  • AZAMP 2 3
  • CAP37 2 3
  • NAZC 2 3
  • HHBP 3 4
  • AZU 2 3
  • AZU1 5

External Ids for AZU1 Gene

Previous GeneCards Identifiers for AZU1 Gene

  • GC19P000909
  • GC19P000765
  • GC19P000776
  • GC19P000597

Summaries for AZU1 Gene

Entrez Gene Summary for AZU1 Gene

  • 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]

GeneCards Summary for AZU1 Gene

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.

UniProtKB/Swiss-Prot Summary for AZU1 Gene

  • This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G.

Gene Wiki entry for AZU1 Gene

Additional gene information for AZU1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AZU1 Gene

Genomics for AZU1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AZU1 Gene
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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AZU1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AZU1

Top Transcription factor binding sites by QIAGEN in the AZU1 gene promoter:
  • AML1a
  • AP-1

Genomic Locations for AZU1 Gene

Latest Assembly
chr19:825,097-832,018
(GRCh38/hg38)
Size:
6,922 bases
Orientation:
Plus strand

Previous Assembly
chr19:827,837-832,018
(GRCh37/hg19 by Entrez Gene)
Size:
4,182 bases
Orientation:
Plus strand

chr19:825,097-832,017
(GRCh37/hg19 by Ensembl)
Size:
6,921 bases
Orientation:
Plus strand

Genomic View for AZU1 Gene

Genes around AZU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AZU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AZU1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AZU1 Gene

Proteins for AZU1 Gene

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  • Protein details for AZU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20160-CAP7_HUMAN
    Recommended name:
    Azurocidin
    Protein Accession:
    P20160
    Secondary Accessions:
    • P80014
    • Q52LG4
    • Q9UCM1
    • Q9UCT5

    Protein attributes for AZU1 Gene

    Size:
    251 amino acids
    Molecular mass:
    26886 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AZU1 Gene

neXtProt entry for AZU1 Gene

Protein Expression for AZU1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AZU1 Gene

  • Cleavage of the N-terminal propeptide which is composed of 7 amino acids occurs in two steps. The initial cleavage of 5 amino acids is followed by the cleavage of a dipeptide to produce the mature form.
  • Glycosylation at Asn126, Asn140, and Asn171
  • Glycosylation from GlyConnect

Other Protein References for AZU1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AZU1 Gene

Domains & Families for AZU1 Gene

Gene Families for AZU1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for AZU1 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for AZU1 Gene

GenScript: Design optimal peptide antigens:
  • Heparin-binding protein (CAP7_HUMAN)
  • AZU1 protein (Q86SR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20160

UniProtKB/Swiss-Prot:

CAP7_HUMAN :
  • Belongs to the peptidase S1 family. Elastase subfamily.
Family:
  • Belongs to the peptidase S1 family. Elastase subfamily.
genes like me logo Genes that share domains with AZU1: view

Function for AZU1 Gene

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  6. Cell Lines for research

Molecular function for AZU1 Gene

UniProtKB/Swiss-Prot Function:
This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G.
GENATLAS Biochemistry:
azurocidin,37kDa,neutrophil and monocyte derived serine protease homolog,released from azurophilic granules of neutrophiles,oxygen independent phagocytes of Gram- bacteria

Phenotypes From GWAS Catalog for AZU1 Gene

Gene Ontology (GO) - Molecular Function for AZU1 Gene

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
genes like me logo Genes that share ontologies with AZU1: view
genes like me logo Genes that share phenotypes with AZU1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AZU1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AZU1 Gene

Localization for AZU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AZU1 Gene

Cytoplasmic granule membrane. Peripheral membrane protein. Cytoplasmic side. Note=Localizes to azurophil granules of neutrophil granulocytes. Also called primary granules, these specialized lysosomes of the neutrophil formed early during promyelocyte development store antibacterial proteins and peptides. {ECO:0000269 PubMed:2312733, ECO:0000269 PubMed:2501794}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AZU1 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AZU1 Gene

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
genes like me logo Genes that share ontologies with AZU1: view

Pathways & Interactions for AZU1 Gene

genes like me logo Genes that share pathways with AZU1: view

Pathways by source for AZU1 Gene

3 Reactome pathways for AZU1 Gene
1 KEGG pathway for AZU1 Gene

Gene Ontology (GO) - Biological Process for AZU1 Gene

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
genes like me logo Genes that share ontologies with AZU1: view

No data available for SIGNOR curated interactions for AZU1 Gene

Drugs & Compounds for AZU1 Gene

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(29) Drugs for AZU1 Gene - From: DrugBank, HMDB, and Novoseek

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

(13) Additional Compounds for AZU1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AZU1: view

Transcripts for AZU1 Gene

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mRNA/cDNA for AZU1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AZU1

Alternative Splicing Database (ASD) splice patterns (SP) for AZU1 Gene

No ASD Table

Relevant External Links for AZU1 Gene

GeneLoc Exon Structure for
AZU1

Expression for AZU1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AZU1 Gene

mRNA expression in normal human tissues for AZU1 Gene
mRNA expression by GTEx for AZU1 GenemRNA expression by BioGPS for AZU1 Gene

mRNA differential expression in normal tissues according to GTEx for AZU1 Gene

This gene is overexpressed in Whole Blood (x43.3).

Protein differential expression in normal tissues from HIPED for AZU1 Gene

This gene is overexpressed in Neutrophil (49.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AZU1 Gene



Protein tissue co-expression partners for AZU1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AZU1

SOURCE GeneReport for Unigene cluster for AZU1 Gene:

Hs.72885

Evidence on tissue expression from TISSUES for AZU1 Gene

  • Blood(4.6)
  • Liver(4.4)
  • Bone marrow(3.5)
  • Heart(2.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with AZU1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AZU1 Gene

Orthologs for AZU1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for AZU1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia AZU1 30 31
  • 98.27 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AZU1 30 31
  • 79.18 (n)
 OneToOne
Species where no ortholog for AZU1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for AZU1 Gene

ENSEMBL:
Gene Tree for AZU1 (if available)
TreeFam:
Gene Tree for AZU1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AZU1: view image

Paralogs for AZU1 Gene

Paralogs for AZU1 Gene

(28) SIMAP similar genes for AZU1 Gene using alignment to 2 proteins:

  • CAP7_HUMAN
  • Q86SR2_HUMAN

Pseudogenes.org Pseudogenes for AZU1 Gene

genes like me logo Genes that share paralogs with AZU1: view

Variants for AZU1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AZU1 Gene

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AZU1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AZU1 Gene

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

Variation tolerance for AZU1 Gene

Residual Variation Intolerance Score: 85.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AZU1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AZU1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AZU1 Gene

Disorders for AZU1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for AZU1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AZU1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AZU1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AZU1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AZU1 Gene

Publications for AZU1 Gene

  1. Cloning of the cDNA for the serine protease homolog CAP37/azurocidin, a microbicidal and chemotactic protein from human granulocytes. (PMID: 1919011) Morgan JG … Larrick JW (Journal of immunology (Baltimore, Md. : 1950) 1991) 2 3 4 23
  2. Atomic resolution structure of human HBP/CAP37/azurocidin. (PMID: 9761855) Karlsen S … Kastrup JS (Acta crystallographica. Section D, Biological crystallography 1998) 3 4 23
  3. Structure of HBP, a multifunctional protein with a serine proteinase fold. (PMID: 9095193) Iversen LF … Larsen IK (Nature structural biology 1997) 3 4 23
  4. Synthetic bactericidal peptide based on CAP37: a 37-kDa human neutrophil granule-associated cationic antimicrobial protein chemotactic for monocytes. (PMID: 8506327) Pereira HA … Spitznagel JK (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 23
  5. Three human elastase-like genes coordinately expressed in the myelomonocyte lineage are organized as a single genetic locus on 19pter. (PMID: 1518849) Zimmer M … Jenne DE (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 23

ExternalLinks

View latest publications for AZU1 gene in Mastermind

Products for AZU1 Gene

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Sources for AZU1 Gene