Cyclic neutropenia

Gene Information

Names

HUGO name: ELA2

Alias(es):

  • SERP1
  • Elastase 2, neutrophil
  • Serine protease
  • Leukocyte elastase precursor
  • Neutrophil elastase
  • PMN elastase
  • Bone marrow serine protease
  • Medullasin

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Medullasin modifies the functions of natural killer cells, monocytes and granulocytes.

Catalytic activity:

Hydrolysis of proteins, including elastin. Preferential cleavage: val-|-xaa > ala-|-xaa.

Structures (PDB)

1HNE Structure of human neutrophil elastase in complex with a peptide chloromethyl ketone inhibitor at 1.84-A resolution.
1PPF X-ray crystal structure of the complex of human leukocyte elastase (PMN elastase) and the third domain of the turkey ovomucoid inhibitor.
1PPG The refined 2.3 A crystal structure of human leukocyte elastase in a complex with a valine chloromethyl ketone inhibitor.
1B0F Crystal Structure Of Human Neutrophil Elastase With Mdl 101, 146

Domains

Other features

Signal peptide: 1-27

    Propeptide: 28-29

      Leukocyte elastase: 30-267

        Disulfide bond: 55-71

          Disulfide bond: 151-208

            Disulfide bond: 181-187

              Disulfide bond: 198-223

                N-linked (glcnac...) glycosylation site: 88

                  N-linked (glcnac...) glycosylation site: 124

                    N-linked (glcnac...) glycosylation site: 173

                      Other related resourses:

                      Expression

                      Expression pattern for human

                      Tissue Expression (%) Clones
                      whole blood 50.84 6:2445
                      thymus 46.14 1:449
                      cervix 1.64 2:25325
                      bone marrow 1.04 1:19854
                      pool, liver+spleen 0.34 1:61327

                      Animal models

                      Mouse