• Gene id: 1991

Gene Summary

• Gene Symbol: ELANE   Gene   UCSC   Ensembl
• Aliases: ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
• Gene name: elastase, neutrophil expressed
• Alternate names: neutrophil elastase, PMN elastase, bone marrow serine protease, elastase 2, neutrophil, elastase-2, granulocyte-derived elastase, leukocyte elastase, medullasin, polymorphonuclear elastase,
• Gene location: 19p13.3 (850996: 856249)     Exons: 6     NC_000019.10
• Gene summary(Entrez): Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active pr
• OMIM: 130130

Protein Summary

• Protein general information: P08246  
  • Name: Neutrophil elastase (EC 3.4.21.37) (Bone marrow serine protease) (Elastase 2) (Human leukocyte elastase) (HLE) (Medullasin) (PMN elastase)
  • Length: 267  
  • Mass: 28,518
• Sequence:

  MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANV
  NVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQ
  CLAMGWGLLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCAS
  GLYPDAFAPVAQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH

• Structural information:
  • Protein Domains: Peptidase (30-247)
  • Interpro: IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • PDB: 1B0F 1H1B 1HNE 1PPF 1PPG 2RG3 2Z7F 3Q76 3Q77 4NZL 4WVP 5A09 5A0A 5A0B 5A0C 5A8X 5A8Y 5A8Z 5ABW
  • PDBsum: 1B0F 1H1B 1HNE 1PPF 1PPG 2RG3 2Z7F 3Q76 3Q77 4NZL 4WVP 5A09 5A0A 5A0B 5A0C 5A8X 5A8Y 5A8Z 5ABW
  • STRING: ENSP00000263621
• Other Databases: GeneCards:  ELANE  Malacards:  ELANE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0001106	RNA polymerase II transcription corepressor activity	IMP	molecular function
GO:0001878	response to yeast	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002438	acute inflammatory response to antigenic stimulus	IBA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006874	cellular calcium ion homeostasis	NAS	biological process
GO:0006909	phagocytosis	IBA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0009411	response to UV	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0017053	transcriptional repressor complex	IDA	cellular component
GO:0019955	cytokine binding	IPI	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030141	secretory granule	IDA	cellular component
GO:0030163	protein catabolic process	NAS	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0042742	defense response to bacterium	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	NAS	biological process
GO:0044130	negative regulation of growth of symbiont in host	IEA	biological process
GO:0045079	negative regulation of chemokine biosynthetic process	IDA	biological process
GO:0045415	negative regulation of interleukin-8 biosynthetic process	IDA	biological process
GO:0045416	positive regulation of interleukin-8 biosynthetic process	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0050728	negative regulation of inflammatory response	NAS	biological process
GO:0050778	positive regulation of immune response	IEA	biological process
GO:0050900	leukocyte migration	IEA	biological process
GO:0050922	negative regulation of chemotaxis	NAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070947	neutrophil mediated killing of fungus	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0001106	RNA polymerase II transcription corepressor activity	IMP	molecular function
GO:0001878	response to yeast	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002438	acute inflammatory response to antigenic stimulus	IEA	biological process
GO:0002438	acute inflammatory response to antigenic stimulus	IBA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006874	cellular calcium ion homeostasis	NAS	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0006909	phagocytosis	IBA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0009411	response to UV	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0017053	transcriptional repressor complex	IDA	cellular component
GO:0019955	cytokine binding	IPI	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030141	secretory granule	IDA	cellular component
GO:0030163	protein catabolic process	NAS	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0042742	defense response to bacterium	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	NAS	biological process
GO:0044130	negative regulation of growth of symbiont in host	IEA	biological process
GO:0045079	negative regulation of chemokine biosynthetic process	IDA	biological process
GO:0045415	negative regulation of interleukin-8 biosynthetic process	IDA	biological process
GO:0045416	positive regulation of interleukin-8 biosynthetic process	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0050728	negative regulation of inflammatory response	NAS	biological process
GO:0050778	positive regulation of immune response	IEA	biological process
GO:0050832	defense response to fungus	IEA	biological process
GO:0050900	leukocyte migration	IEA	biological process
GO:0050922	negative regulation of chemotaxis	NAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070947	neutrophil mediated killing of fungus	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0001106	RNA polymerase II transcription corepressor activity	IMP	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002438	acute inflammatory response to antigenic stimulus	IBA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006874	cellular calcium ion homeostasis	NAS	biological process
GO:0006909	phagocytosis	IBA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0009411	response to UV	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0017053	transcriptional repressor complex	IDA	cellular component
GO:0019955	cytokine binding	IPI	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030141	secretory granule	IDA	cellular component
GO:0030163	protein catabolic process	NAS	biological process
GO:0042742	defense response to bacterium	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	NAS	biological process
GO:0045079	negative regulation of chemokine biosynthetic process	IDA	biological process
GO:0045415	negative regulation of interleukin-8 biosynthetic process	IDA	biological process
GO:0045416	positive regulation of interleukin-8 biosynthetic process	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0050728	negative regulation of inflammatory response	NAS	biological process
GO:0050922	negative regulation of chemotaxis	NAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03050	Proteasome
hsa04015	Rap1 signaling pathway
hsa05202	Transcriptional misregulation in cancer
hsa05322	Systemic lupus erythematosus

Diseases

Associated diseases	References
Cancer (lung)	GAD: 11948122
Blood pressure	GAD: 19590686
Cardiovascular disease	GAD: 17622939
Neutropenia	KEGG: H00100
Leukocytospermia	MIK: 7789553
Sperm motility	MIK: 16266398
Leukocytospermia	MIK: 7789553
Sperm motility	MIK: 16266398

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16266398	Sperm motility			340 patients to investigate genital tract inflammation	Male infertility	IL-6 elastase
7789553	Leukocytospermia				Male infertility	Elastase SOD IL2 IL-8