Familial hemophagocytic lymphohistiocytosis 3

Gene Information

Names

HUGO name: UNC13D

Alias(es):

  • FLJ00067
  • Munc13-4
  • unc-13 homolog D
  • FLJ00067 protein (Fragment)

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Seems to play a role in vesicle maturation during exocytosis. Is involved in regulation of cytolytic granules secretion.

Subcellular location:

Cytoplasmic and membrane-associated. Colocalizes with cytotoxic granules at the plasma membrane.

Tissue specificity:

Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney.

Similarity:

Belongs to the UNC-13 family.

Structures (PDB)

Domains

C2 domain 1 domain: 98-221

    C2 domain 2 domain: 912-1019

      Expression

      Expression pattern for human

      Tissue Expression (%) Clones
      larynx epithelium 94.05 1:24
      thymus 1.47 2:3074
      blood 0.78 16:46017
      stomach 0.69 22:71656
      spleen 0.55 3:12346
      pancreas 0.53 16:67592
      eye 0.28 16:128990
      cervix 0.28 4:32826
      lymph_node 0.22 11:113869
      mixed 0.17 23:314320

      Animal models

      Mouse