Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein RFX5

regulatory factor X, 5 (influences HLA class II expression)
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K08061
KEGG - Pathway(s):
hsa04612; hsa05340
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
DNA binding protein RFX5; Regulatory factor X, 5
Approved Symbol:
RFX5
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 15
Human (de-) phosphorylation sites: 15; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Bare lymphocyte syndrome, type II, complementation group C(Pd);
  • Bare lymphocyte syndrome, type II, complementation group E(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03517 Entrez Gene ID: 5993 OMIM ID: 601863 Swissprot Accession: P48382;