Human regulatory factor X, 5 (influences HLA class II expression) ELISA Kit | RFX5 elisa kit

Human DNA-binding protein RFX5, RFX5 ELISA Kit

Cat. Num. AAA9327214

• Reactivity: Human
• Synonyms: regulatory factor X; 5 (influences HLA class II expression); Human DNA-binding protein RFX5; RFX5 ELISA Kit; Human DNA-binding protein RFX5 (RFX5) ELISA kit; RP11-126K1.5; OTTHUMP00000196318; 5; RFX5 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 4557843
• NCBI GeneID: 5993
• NCBI Accession #: NP_000440.1
• NCBI GenBank Nucleotide #: NM_000449.3
• UniProt Accession #: P48382; Q5VWC3; B7Z848; D3DV19; E9PFU4
• Molecular Weight: 65,323 Da
• NCBI Official Full Name: DNA-binding protein RFX5
• NCBI Official Synonym Full Names: regulatory factor X, 5 (influences HLA class II expression)
• NCBI Official Symbol: RFX5
• NCBI Protein Information: DNA-binding protein RFX5; regulatory factor X 5
• UniProt Protein Name: DNA-binding protein RFX5
• Protein Family: DNA-binding protein
• UniProt Gene Name: RFX5
• UniProt Entry Name: RFX5_HUMAN

NCBI Description

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, Jul 2008]

Uniprot Description

RFX5: Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters. Defects in RFX5 are a cause of bare lymphocyte syndrome type 2 (BLS2); also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. Belongs to the RFX family.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 1q21

Cellular Component: nucleus

Molecular Function: protein binding; DNA binding; transcription factor activity

Biological Process: regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter

Disease: Bare Lymphocyte Syndrome, Type Ii