• Gene id: 566

Gene Summary

• Gene Symbol: AZU1   Gene   UCSC   Ensembl
• Aliases: AZAMP, AZU, CAP37, HBP, HUMAZUR, NAZC, hHBP
• Gene name: azurocidin 1
• Alternate names: azurocidin, cationic antimicrobial protein 37, cationic antimicrobial protein CAP37, heparin-binding protein, neutrophil azurocidin,
• Gene location: 19p13.3 (827836: 832017)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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 pr
• OMIM: 611836

SNPs

rs202094637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32602299G>A
NC_000021.9   g.32602299G>C
NC_000021.8   g.33974609G>A
NC_000021.8   g.33974609G>C
NG_033839.2   g.15310C>T
NG_033839.2   g.15310C>G
NM_021254.4   c.735C>T
NM_021254.4   c.735C>G
NM_021254.3   c.735C>T
NM_021254.3   c.735C>G
NM_021254.2   c.73

rs143740376

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32609853G>A
NC_000021.8   g.33982163G>A
NG_033839.2   g.7756C>T
NM_021254.4   c.292C>T
NM_021254.3   c.292C>T
NM_021254.2   c.292C>T
NM_001350334.2   c.63C>T
NM_001350334.1   c.63C>T
NM_001350336.2   c.292C>T
NM_001350336.1   c.292C>T
NM_001350337.2   c.29

rs12520985

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

rs2241057

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.72134831A>G
NC_000002.11   g.72361960A>G
NG_007957.1   g.18004T>C
NM_019885.3   c.791T>C
NM_001277742.1   c.566T>C
XM_005264433.4   c.617T>C
XM_005264433.1   c.617T>C
XM_011532988.1   c.218T>C
NP_063938.1   p.Leu264Ser
NP_001264671.1   p.Leu189Ser
XP_00  

rs707718

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.72129320G>C
NC_000002.12   g.72129320G>T
NC_000002.11   g.72356449G>C
NC_000002.11   g.72356449G>T
NG_007957.1   g.23515C>G
NG_007957.1   g.23515C>A
NM_019885.3   c.*2907C>G
NM_019885.3   c.*2907C>A
NM_001277742.1   c.*2907C>G
NM_001277742.1   c.*2907C>

Protein Summary

• Protein general information: P20160  
  • Name: Azurocidin (Cationic antimicrobial protein CAP37) (Heparin binding protein) (HBP) (hHBP)
  • Length: 251  
  • Mass: 26886
• Sequence:

  MTRLTVLALLAGLLASSRAGSSPLLDIVGGRKARPRQFPFLASIQNQGRHFCGGALIHARFVMTAASCFQSQNPG
  VSTVVLGAYDLRRRERQSRQTFSISSMSENGYDPQQNLNDLMLLQLDREANLTSSVTILPLPLQNATVEAGTRCQ
  VAGWGSQRSGGRLSRFPRFVNVTVTPEDQCRPNNVCTGVLTRRGGICNGDGGTPLVCEGLAHGVASFSLGPCGRG
  PDFFTRVALFRDWIDGVLNNPGPGPA

• Structural information:
  • Protein Domains: (27..24-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001254  
  • Prosite: PS50240
  • CDD: cd00190
  • PDB: 1A7S 1AE5 1FY1 1FY3
  • PDBsum: 1A7S 1AE5 1FY1 1FY3
  • STRING: ENSP00000233997
• Other Databases: GeneCards:  AZU1  Malacards:  AZU1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042582	azurophil granule	IBA	cellular component
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0035577	azurophil granule membrane	IDA	cellular component
GO:0070944	neutrophil-mediated killing of bacterium	IDA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006935	chemotaxis	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0042742	defense response to bacterium	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0008233	peptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0045785	positive regulation of cell adhesion	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	IDA	biological process
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0032603	fractalkine production	IDA	biological process
GO:0050725	positive regulation of interleukin-1 beta biosynthetic process	IDA	biological process
GO:0045785	positive regulation of cell adhesion	IDA	biological process
GO:0042582	azurophil granule	IDA	cellular component
GO:0043395	heparan sulfate proteoglycan binding	IDA	molecular function
GO:0008347	glial cell migration	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0050766	positive regulation of phagocytosis	IDA	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0035584	calcium-mediated signaling using intracellular calcium source	IGI	biological process
GO:0035584	calcium-mediated signaling using intracellular calcium source	IGI	biological process
GO:0070528	protein kinase C signaling	IMP	biological process
GO:0019730	antimicrobial humoral response	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0060326	cell chemotaxis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048246	macrophage chemotaxis	NAS	biological process
GO:0045348	positive regulation of MHC class II biosynthetic process	IEP	biological process
GO:0043114	regulation of vascular permeability	NAS	biological process
GO:0043066	negative regulation of apoptotic process	NAS	biological process
GO:0042117	monocyte activation	TAS	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0050930	induction of positive chemotaxis	NAS	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0015643	toxic substance binding	NAS	molecular function
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	TAS	biological process
GO:0051607	defense response to virus	IMP	biological process
GO:0050829	defense response to Gram-negative bacterium	TAS	biological process
GO:0045123	cellular extravasation	NAS	biological process
GO:0008201	heparin binding	IMP	molecular function
GO:0001774	microglial cell activation	IEP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray