Interleukin-12 receptor β1 deficiency

Gene Information

Names

HUGO name: IL12RB1

Alias(es):

  • IL12R
  • IL12RB
  • interleukin 12 receptor, beta 1
  • Interleukin-12 receptor beta-1 chain precursor
  • IL-12R-beta1
  • IL-12 receptor beta component
  • IL-12RB1

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Involved in IL-12 transduction. Binds to IL-12 with a low affinity.

Subunit:

Dimer/oligomer; disulfide-linked. The functional high affinity IL-12 receptor is composed of at least IL12rb1 and IL12rb2.

Subcellular location:

Type I membrane protein.

Alternative products:

2 isoforms; a long form and a short form; may be produced by alternative splicing.

Structures (PDB)

Domains

Extracellular domain.: 24-545

    Cytoplasmic domain: 571-662

      Fibronectin type-III 1 domain: 43-133

        Fibronectin type-III 2 domain: 143-236

          Fibronectin type-III 3 domain: 237-337

            Fibronectin type-III 4 domain: 338-444

              Fibronectin type-III 5 domain: 445-540

                Other features

                Signal peptide: 1-23

                  Interleukin-12 receptor beta-1 chain: 24-662

                    Disulfide bond: 52-62

                      Other related resourses:

                      Expression

                      Expression pattern for human

                      Tissue Expression (%) Clones
                      leukopheresis 45.38 2:4557
                      leukocyte 23.02 2:8982
                      lymph, T-cell 12.16 1:8503
                      blood 8.18 1:12646
                      bone marrow 5.21 1:19854
                      mixed 3.43 2:60341
                      lymph 1.61 1:64395
                      skin 1.01 1:102017

                      Animal models

                      Mouse

                      Fly