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Protein basic information

LiverAtlas Protein ID

HuLPr50237

Uniprot ID

ELNE_HUMAN

Uniprot Acc

P08246;P09649;Q6B0D9;Q6LDP5;

Protein name

Neutrophil elastase

Comment

FUNCTION: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.||CATALYTIC ACTIVITY: Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.||SUBUNIT: Interacts with NOTCH2NL.||TISSUE SPECIFICITY: Bone marrow cells.||DISEASE: Defects in ELANE are a cause of cyclic haematopoiesis (CH) [MIM:162800]; also known as cyclic neutropenia. CH is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.||DISEASE: Defects in ELANE are the cause of neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700]. SCN1 is a disorder of hematopoiesis characterized

Gene name

elastase, neutrophil expressed

Protein sequence

MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHA WPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRA VRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDI VILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWG LLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAG VCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPV AQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH

Database cross reference

RefSeq Protein accession:NP_001963
RefSeq Protein gi:4503549

Ontology annotation

GO-C

GO:0009986; C:cell surface; IDA:UniProtKB. GO:0005576; C:extracellular region; NAS:UniProtKB. GO:0030141; C:stored secretory granule; IDA:MGI.

GO-F

GO:0051635; F:bacterial cell surface binding; NAS:UniProtKB. GO:0019955; F:cytokine binding; IPI:UniProtKB. GO:0008201; F:heparin binding; IDA:MGI.

GO-P

GO:0006874; P:cellular calcium ion homeostasis; NAS:UniProtKB. GO:0045079; P:negative regulation of chemokine biosynthetic process; IDA:UniProtKB. GO:0050922; P:negative regulation of chemotaxis; NAS:UniProtKB. GO:0050728; P:negative regulation of infla