• Gene id: 5657

Gene Summary

• Gene Symbol: PRTN3   Gene   UCSC   Ensembl
• Aliases: ACPA, AGP7, C-ANCA, CANCA, MBN, MBT, NP-4, NP4, P29, PR-3, PR3
• Gene name: proteinase 3
• Alternate names: myeloblastin, C-ANCA antigen, Wegener granulomatosis autoantigen, azurophil granule protein 7, leukocyte proteinase 3, neutrophil proteinase 4, serine proteinase, neutrophil, wegener autoantigen,
• Gene location: 19p13.3 (840964: 848174)     Exons: 5     NC_000019.10
• OMIM: 138590

Protein Summary

• Protein general information: P24158  
  • Name: Myeloblastin (EC 3.4.21.76) (AGP7) (C ANCA antigen) (Leukocyte proteinase 3) (PR 3) (PR3) (Neutrophil proteinase 4) (NP 4) (P29) (Wegener autoantigen)
  • Length: 256  
  • Mass: 27807
  • Tissue specificity: Expressed in polymorphonuclear leukocytes (at protein level) (PubMed
• Sequence:

  MAHRPPSPALASVLLALLLSGAARAAEIVGGHEAQPHSRPYMASLQMRGNPGSHFCGGTLIHPSFVLTAAHCLRD
  IPQRLVNVVLGAHNVRTQEPTQQHFSVAQVFLNNYDAENKLNDVLLIQLSSPANLSASVATVQLPQQDQPVPHGT
  QCLAMGWGRVGAHDPPAQVLQELNVTVVTFFCRPHNICTFVPRRKAGICFGDSGGPLICDGIIQGIDSFVIWGCA
  TRLFPDFFTRVALYVDWIRSTLRRVEAKGRP

• Structural information:
  • Protein Domains: (28..24-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • PDB: 1FUJ
  • PDBsum: 1FUJ
  • DIP: 31107
  • STRING: ENSP00000234347
• Other Databases: GeneCards:  PRTN3  Malacards:  PRTN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0006909	phagocytosis	IBA	biological process
GO:0097029	mature conventional dendritic cell differentiation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0030574	collagen catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0004252	serine-type endopeptidase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0045121	membrane raft	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0044853	plasma membrane raft	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0035578	azurophil granule lumen	IDA	cellular component
GO:0050765	negative regulation of phagocytosis	IDA	biological process
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0006508	proteolysis	IMP	biological process
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:0006509	membrane protein ectodomain proteolysis	IMP	biological process
GO:0072672	neutrophil extravasation	IMP	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0045217	cell-cell junction maintenance	IMP	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			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R