ELANE

Protein identityUniProt · HPA

UniProt accession

P08246

Gene

ELANE

Ensembl

ENSG00000197561

Chromosome

19

Canonical length

267 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted secreted proteins

Subcellular location

Golgi apparatus,Vesicles

Secretome location

Secreted to blood

OverviewNCBI Gene

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 protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

267 residues, UniProt reviewed canonical sequence.

>P08246|ELANE
     1  MTLGRRLACL FLACVLPALL LGGTALASEI VGGRRARPHA WPFMVSLQLR GGHFCGATLI
    61  APNFVMSAAH CVANVNVRAV RVVLGAHNLS RREPTRQVFA VQRIFENGYD PVNLLNDIVI
   121  LQLNGSATIN ANVQVAQLPA QGRRLGNGVQ CLAMGWGLLG RNRGIASVLQ ELNVTVVTSL
   181  CRRSNVCTLV RGRQAGVCFG DSGSPLVCNG LIHGIASFVR GGCASGLYPD AFAPVAQFVN
   241  WIDSIIQRSE DNPCPHPRDP DPASRTH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELANE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

3,672 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELANE.

Disease | AllUniProt

Conditions ELANE is implicated in, by any mechanism.

• Cyclic haematopoiesis (CH) MIM:162800
• Neutropenia, severe congenital 1, autosomal dominant (SCN1) MIM:202700

Disease | GeneticClinVar

109 pathogenic / likely-pathogenic of 904 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neutropenia, severe congenital, 1, autosomal dominant
• Cyclical neutropenia
• ELANE-related disorder
• Autoinflammatory syndrome
• Decreased total neutrophil count

Disease | ImmuneIEDB

Conditions an epitope on ELANE was assayed in.

• rheumatoid arthritis B cell
• osteoarthritis B cell

ReferencesPubMed · IEDB

Publications for ELANE from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0

gnomAD missense Z

0.72

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 0% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• acute inflammatory response to antigenic stimulus
• defense response to bacterium
• extracellular matrix disassembly
• intracellular calcium ion homeostasis
• leukocyte migration involved in inflammatory response
• negative regulation of chemokine production
• negative regulation of chemotaxis
• negative regulation of inflammatory response
• negative regulation of interleukin-8 production
• negative regulation of transcription by RNA polymerase II
• neutrophil-mediated killing of fungus
• neutrophil-mediated killing of gram-negative bacterium
• phagocytosis
• positive regulation of immune response
• positive regulation of interleukin-8 production
• positive regulation of leukocyte tethering or rolling
• positive regulation of MAP kinase activity
• positive regulation of smooth muscle cell proliferation
• protein catabolic process
• proteolysis
• pyroptotic inflammatory response
• response to lipopolysaccharide
• response to UV
• response to yeast
• biosynthetic process of antibacterial peptides active against Gram-negative bacteria

Molecular functions

• cytokine binding
• endopeptidase activity
• heparin binding
• peptidase activity
• protease binding
• serine-type endopeptidase activity
• transcription corepressor activity

Cellular components

• azurophil granule lumen
• cell surface
• cytoplasm
• cytosol
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• Golgi apparatus
• phagocytic vesicle
• secretory granule
• specific granule lumen
• transcription repressor complex

Protein domainsUniProt · Pfam · InterPro

• Serine proteases, trypsin domain
• Peptidase S1A, chymotrypsin family
• Peptidase S1, PA clan
• Serine proteases, trypsin family, histidine active site
• Serine proteases, trypsin family, serine active site
• Peptidase S1 family, Elastase subfamily
• Trypsin

KeywordsUniProt

• Cytoplasmic vesicle
• Disulfide bond
• Glycoprotein
• Hydrolase
• Protease
• Serine protease
• Signal
• Zymogen

InteractionsUniProt · HPA

Protein binding partners of ELANE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NOTCH2NL
• NOTCH2NLA