MAC inhibitor (CD59) deficiency

Gene Information

Names

HUGO name: CD59

Alias(es):

  • MIC11
  • MIN1
  • MIN2
  • MIN3
  • MSK21
  • CD59 antigen p18-20
  • CD59 glycoprotein precursor
  • Membrane attack complex inhibition facto
  • MACIF
  • MAC-inhibitory protein
  • MAC-IP
  • MEM43 antigen
  • Protectin
  • Membrane inhibitor of reactive lysis
  • MIRL

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Potent inhibitor of the complement Membrane Attack Complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase. Interacts with T-cell surface antigen CD2.

Subcellular location:

Attached to the membrane by a GPI-anchor.

Post-translational modification:

N-and O-glycosylated. The N-gycosylation mainly consists of a family of bi-antennary complex-type structures with and without lactosamine extensions and outer arm fucose residues. The predomiant O-glycans are mono-sialylated forms of the disaccharide, GAL-beta-1, 3GALNAC, and their sites of attachment are probably on THR-76 and THR-77.

Structures (PDB)

1CDQ Structure of a soluble, glycosylated form of the human complement regulatory protein CD59.
1CDR Structure of a soluble, glycosylated form of the human complement regulatory protein CD59.
1CDS Structure of a soluble, glycosylated form of the human complement regulatory protein CD59.
1ERG Three-dimensional solution structure of the extracellular region of the complement regulatory protein CD59, a new cell-surface protein domain related to snake venom neurotoxins.
1ERH Three-dimensional solution structure of the extracellular region of the complement regulatory protein CD59, a new cell-surface protein domain related to snake venom neurotoxins.

Domains

Upar/ly6 domain: 26-108

    Other features

    Signal peptide: 1-25

      Cd59 glycoprotein: 26-102

        Propeptide Removed in mature form: 103-128

          Disulfide bond: 28-51

            Disulfide bond: 31-38

              Disulfide bond: 44-64

                Disulfide bond: 70-88

                  Disulfide bond: 89-94

                    N-linked (glcnac...) glycosylation site: 43

                      N-linked (glycation) glycosylation site: 66

                        N-linked (glycation) glycosylation site: 69

                          O-linked (glcnac...) glycosylation site: 76

                            O-linked (glcnac...) glycosylation site: 77

                              Glycosyl-phosphatidylinositol (GPI) group linked to the alpha-carboxyl group of the C-terminal residue of the mature form of a protein: 102

                                Other related resourses:

                                Expression

                                Expression pattern for human

                                Tissue Expression (%) Clones
                                lung, cell line 7.84 4:876
                                human choriocarcinoma 7.01 1:245
                                prostate, stroma 6.04 1:284
                                pituitary tumor 4.93 2:696
                                ovary, tumor tissue 4.58 3:1125
                                adipose, white adipose tissue 3.48 2:987
                                dorsal root ganglia 3.36 2:1021
                                normal gingiva (cell line from immortalized keratinocytes) 3.32 1:517
                                aorta, endothelium 2.82 5:3042
                                adult brain 2.52 1:682