Familial haemophagocytic lymphohistiocytosis type 2

Gene Information

Names

HUGO name: PRF1

Alias(es):

  • HPLH2
  • P1
  • PFP
  • PERFORIN 1 PRECURSOR
  • perforin 1 (pore forming protein)
  • perforin 1 (preforming protein)
  • Perforin 1 precursor
  • Lymphocyte pore forming protein
  • Cytolysin

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

In the presence of calcium, perforin polymerizes into transmembrane tubules and is capable of lysing non-specifically a variety of target cells.

Subcellular location:

Cytoplasmic granules of cytolytic T-lymphocytes.

Induction:

Repressed by contact with target cells.

Structures (PDB)

Domains

Egf-like domain: 373-408

    C2 domain domain: 416-498

      Other features

      Signal peptide : 1-21

        Perforin 1: 22-555

          Disulfide bond : 257-279

            N-linked (glcnac...) glycosylation site: 205

              N-linked (glcnac...) glycosylation site: 549

                Other related resourses:

                Expression

                Expression pattern for human

                Tissue Expression (%) Clones
                natural killer cells, cell line 50.11 12:5412
                lymphocyte 11.60 1:1949
                leukocyte 7.61 3:8915
                hepatocellular carcinoma, cell line 6.89 4:13130
                lung focal fibrosis 5.85 1:3864
                leukopheresis 5.81 2:7777
                rpe and choroid 4.97 1:4545
                human skeletal muscle 2.12 1:10654
                poorly differentiated adenocarcinoma with signet ring cell features 1.26 1:17880
                2 pooled tumors (clear cell type) 1.10 1:20589