Netherton syndrome

Gene Information

Names

HUGO name: SPINK5

Alias(es):

  • LEKTI
  • LETKI
  • NETH
  • VAKTI
  • lymphoepithelial Kazal-type-related inhibitor
  • serine protease inhibitor, Kazal type 5
  • Serine protease inhibitor Kazal-type 5 precursor

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia.

Subcellular location:

Secreted

Tissue specificity:

Highly expressed in the thymus. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate.

Similarity:

Contains 15 Kazal-like domains.

Structures (PDB)

1H0Z Lekti Domain Six
1HDL Lekti Domain One

Domains

Kazal-like 1 (atypical) domain: 28-66

    Kazal-like 2 domain: 95-151

      Kazal-like 3 (atypical) domain: 159-214

        Kazal-like 4 (atypical) domain: 223-272

          Kazal-like 5 (atypical) domain: 295-351

            Kazal-like 6 (atypical) domain: 365-421

              Kazal-like 7 (atypical) domain: 435-473

                Kazal-like 8 (atypical) domain: 494-556

                  Kazal-like 9 (atypical) domain: 565-621

                    Kazal-like 10 (atypical) domain: 630-686

                      Kazal-like 11 (atypical) domain: 705-757

                        Kazal-like 12 (atypical) domain: 773-828

                          Kazal-like 13 (atypical) domain: 847-903

                            Kazal-like 14 (atypical) domain: 914-970

                              Kazal-like 15 domain: 991-1046

                                Other features

                                Signal peptide: 1-22

                                  Serine protease inhibitor kazal-type 5: 23-1064

                                    Released active peptide Hemofiltrate peptide hf6478: 23-77

                                      Released active peptide Hemofiltrate peptide hf7665: 356-423

                                        Disulfide bond: 30-66

                                          Disulfide bond: 44-63

                                            Disulfide bond: 97-133

                                              Disulfide bond: 111-130

                                                Disulfide bond: 119-151

                                                  Disulfide bond: 161-197

                                                    Disulfide bond: 175-194

                                                      Disulfide bond: 225-261

                                                        Disulfide bond: 239-258

                                                          Disulfide bond: 297-333

                                                            Disulfide bond: 311-330

                                                              Disulfide bond: 367-403

                                                                Disulfide bond: 381-400

                                                                  Disulfide bond: 437-473

                                                                    Disulfide bond: 451-470

                                                                      Disulfide bond: 496-532

                                                                        Disulfide bond: 510-529

                                                                          Disulfide bond: 567-603

                                                                            Disulfide bond: 581-600

                                                                              Disulfide bond: 632-668

                                                                                Disulfide bond: 646-665

                                                                                  Disulfide bond: 707-743

                                                                                    Disulfide bond: 721-740

                                                                                      Disulfide bond: 774-810

                                                                                        Disulfide bond: 788-807

                                                                                          Disulfide bond: 849-885

                                                                                            Disulfide bond: 863-882

                                                                                              Disulfide bond: 916-952

                                                                                                Disulfide bond: 930-949

                                                                                                  Disulfide bond: 993-1028

                                                                                                    Disulfide bond: 1006-1025

                                                                                                      Disulfide bond: 1014-1046

                                                                                                        Other related resourses:

                                                                                                        Expression

                                                                                                        Expression pattern for human

                                                                                                        Tissue Expression (%) Clones
                                                                                                        tongue 48.94 1:2492
                                                                                                        heart 17.17 5:35504
                                                                                                        cervix 7.43 2:32826
                                                                                                        other 6.33 22:423795
                                                                                                        skin 4.87 6:150171
                                                                                                        stomach 3.40 2:71656
                                                                                                        colon 2.96 2:82275
                                                                                                        lung 2.14 4:227901
                                                                                                        kidney 2.14 2:113979
                                                                                                        placenta 1.71 2:142648