Severe congenital neutropenias, including Kostmann syndrome

Gene Information

Names

HUGO name: CSF3R

Alias(es):

  • GCSFR
  • Colony stimulating factor 3 receptor (granulocyte)
  • Granulocyte colony stimulating factor receptor precursor

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Receptor for granulocyte colony-stimulating factor (G-CSF). In addition it may function in some adhesion or recognition events at the cell surface.

Subunit:

Dimer

Subcellular location:

Type I membrane protein. The GCSFR-2 form, which lacks the transmembrane domain, may represent a soluble form of the receptor.

Structures (PDB)

1AZ7 .

Domains

Extracellular domain: 25-627

    Cytoplasmic domain: 651-836

      Ig-like c2-type domain domain: 25-117

        Fibronectin type-III 1 domain: 121-227

          Fibronectin type-III 2 domain: 228-332

            Fibronectin type-III 3 domain: 333-428

              Fibronectin type-III 4 domain: 429-525

                Fibronectin type-III 5 domain: 526-621

                  Other features

                  Signal peptide: 1-24

                    Granulocyte colony stimulating factor receptor: 25-836

                      Disulfide bond: 131-142

                        Disulfide bond: 248-295

                          Disulfide bond: 266-309

                            N-linked (glcnac...) glycosylation site: 51

                              N-linked (glcnac...) glycosylation site: 93

                                N-linked (glcnac...) glycosylation site: 128

                                  N-linked (glcnac...) glycosylation site: 134

                                    N-linked (glcnac...) glycosylation site: 389

                                      N-linked (glcnac...) glycosylation site: 474

                                        N-linked (glcnac...) glycosylation site: 579

                                          N-linked (glcnac...) glycosylation site: 610

                                            Other related resourses:

                                            Expression

                                            Expression pattern for human

                                            Tissue Expression (%) Clones
                                            spleen 19.77 5:7229
                                            leukocyte 15.91 5:8982
                                            whole blood 11.69 1:2445
                                            osteoarthritic cartilage 9.53 1:2999
                                            ovary (pool of 3) 6.53 1:4380
                                            aorta 5.56 2:10275
                                            bone marrow stroma 5.36 1:5331
                                            placenta 5.23 17:92983
                                            pool, placenta 4.85 2:11794
                                            prostate, epithelium 3.07 1:9299

                                            Animal models

                                            Mouse