Human Gene AZU1 (ENST00000233997.4) from GENCODE V44
  Description: Homo sapiens azurocidin 1 (AZU1), mRNA. (from RefSeq NM_001700)
RefSeq Summary (NM_001700): 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].
Gencode Transcript: ENST00000233997.4
Gencode Gene: ENSG00000172232.10
Transcript (Including UTRs)
   Position: hg38 chr19:827,837-832,018 Size: 4,182 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr19:827,847-831,877 Size: 4,031 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:827,837-832,018)mRNA (may differ from genome)Protein (251 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAP7_HUMAN
DESCRIPTION: RecName: Full=Azurocidin; AltName: Full=Cationic antimicrobial protein CAP37; AltName: Full=Heparin-binding protein; Short=HBP; Flags: Precursor;
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-nagative 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.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Cytoplasmic granule. Note=Cytoplasmic granules of neutrophils.
SIMILARITY: Belongs to the peptidase S1 family. Elastase subfamily.
SIMILARITY: Contains 1 peptidase S1 domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AZU1
Diseases sorted by gene-association score: camptodactyly-arthropathy-coxa vara-pericarditis syndrome (5), cornea cancer (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.41 RPKM in Whole Blood
Total median expression: 39.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -49.00141-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1A7S - X-ray MuPIT 1AE5 - X-ray MuPIT 1FY1 - X-ray MuPIT 1FY3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P20160
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
      
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0008233 peptidase activity
GO:0015643 toxic substance binding
GO:0043395 heparan sulfate proteoglycan binding
GO:0004252 serine-type endopeptidase activity

Biological Process:
GO:0001774 microglial cell activation
GO:0006508 proteolysis
GO:0006935 chemotaxis
GO:0006954 inflammatory response
GO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway
GO:0008347 glial cell migration
GO:0010628 positive regulation of gene expression
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0019730 antimicrobial humoral response
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0042117 monocyte activation
GO:0042535 positive regulation of tumor necrosis factor biosynthetic process
GO:0042742 defense response to bacterium
GO:0043066 negative regulation of apoptotic process
GO:0043114 regulation of vascular permeability
GO:0043312 neutrophil degranulation
GO:0045123 cellular extravasation
GO:0045348 positive regulation of MHC class II biosynthetic process
GO:0045785 positive regulation of cell adhesion
GO:0045860 positive regulation of protein kinase activity
GO:0048246 macrophage chemotaxis
GO:0050725 positive regulation of interleukin-1 beta biosynthetic process
GO:0050754 positive regulation of fractalkine biosynthetic process
GO:0050766 positive regulation of phagocytosis
GO:0050829 defense response to Gram-negative bacterium
GO:0050930 induction of positive chemotaxis
GO:0051607 defense response to virus
GO:0060326 cell chemotaxis
GO:0070528 protein kinase C signaling
GO:0070944 neutrophil mediated killing of bacterium

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0016020 membrane
GO:0019898 extrinsic component of membrane
GO:0035577 azurophil granule membrane
GO:0035578 azurophil granule lumen
GO:0042582 azurophil granule
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC044940 - Homo sapiens azurocidin 1, mRNA (cDNA clone IMAGE:5203292), partial cds.
BC093931 - Homo sapiens azurocidin 1, mRNA (cDNA clone MGC:120966 IMAGE:7939776), complete cds.
BC093933 - Homo sapiens azurocidin 1, mRNA (cDNA clone MGC:120968 IMAGE:7939778), complete cds.
BC069495 - Homo sapiens azurocidin 1, mRNA (cDNA clone MGC:97038 IMAGE:7262247), complete cds.
CU686850 - Synthetic construct Homo sapiens gateway clone IMAGE:100022618 5' read AZU1 mRNA.
HQ448471 - Synthetic construct Homo sapiens clone IMAGE:100071900; CCSB013886_01 azurocidin 1 (cationic antimicrobial protein 37) (AZU1) gene, encodes complete protein.
KJ890749 - Synthetic construct Homo sapiens clone ccsbBroadEn_00143 AZU1 gene, encodes complete protein.
DD333301 - Novel Marker Peptide for Bone Metastasis and Method for Diagnosing Bone Metastasis Using Same.
X58794 - Human mRNA for azurocidin.
JD389835 - Sequence 370859 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P20160 (Reactome details) participates in the following event(s):

R-HSA-6798751 Exocytosis of azurophil granule lumen proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: CAP7_HUMAN, ENST00000233997.1, ENST00000233997.2, ENST00000233997.3, NM_001700, P20160, P80014, Q52LG4, Q9UCM1, Q9UCT5, uc002lpz.1, uc002lpz.2, uc002lpz.3
UCSC ID: ENST00000233997.4
RefSeq Accession: NM_001700
Protein: P20160 (aka CAP7_HUMAN)
CCDS: CCDS12044.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.