Human Gene RFXANK (uc002nls.3) Description and Page Index
Description: Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA. RefSeq Summary (NM_003721): Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]. Transcript (Including UTRs) Position: hg19 chr19:19,303,008-19,312,678 Size: 9,671 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr19:19,304,756-19,312,528 Size: 7,773 Coding Exon Count: 8
ID:RFXK_HUMAN DESCRIPTION: RecName: Full=DNA-binding protein RFXANK; AltName: Full=Ankyrin repeat family A protein 1; AltName: Full=Regulatory factor X subunit B; Short=RFX-B; AltName: Full=Regulatory factor X-associated ankyrin-containing protein; FUNCTION: Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes. SUBUNIT: The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with MHC2TA to form an active transcriptional complex. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitous. DOMAIN: The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP. The three central ANK repeats mediate binding to the PxLPxI/L motif of RFX5. DISEASE: Defects in RFXANK are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; 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. SIMILARITY: Contains 5 ANK repeats. WEB RESOURCE: Name=RFXANKbase; Note=RFXANK mutation db; URL="http://bioinf.uta.fi/RFXANKbase/";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RFXANK CDC HuGE Published Literature: RFXANK Positive Disease Associations: Potassium Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14593
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007265 Ras protein signal transduction GO:0045944 positive regulation of transcription from RNA polymerase II promoter