======= RFX5 ======= == Gene Information == * **Official Symbol**: RFX5 * **Official Name**: regulatory factor X5 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5993|5993]] * **UniProt**: [[https://www.uniprot.org/uniprot/P48382|P48382]] * **Interactions**: [[https://thebiogrid.org/search.php?search=RFX5&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RFX5|Open PubMed]] * **OMIM**: [[https://omim.org/entry/601863|Open OMIM]] == Function Summary == * **Entrez 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, Jul 2008]. * **UniProt Summary**: 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. |RFX DNA binding| |sequence-specific DNA binding| |DNA-binding transcription activator activity, RNA polymerase II-specific| |RNA polymerase II proximal promoter sequence-specific DNA binding| |DNA-binding transcription factor activity| |negative regulation of transcription by RNA polymerase II| |negative regulation of transcription, DNA-templated| |positive regulation of transcription by RNA polymerase II| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of RNA metabolic process| |negative regulation of cellular macromolecule biosynthetic process| |negative regulation of nucleobase-containing compound metabolic process| |DNA binding| |negative regulation of macromolecule biosynthetic process| |negative regulation of cellular biosynthetic process| |positive regulation of transcription, DNA-templated| |negative regulation of biosynthetic process| |DNA-binding transcription factor activity, RNA polymerase II-specific| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |negative regulation of gene expression| |positive regulation of RNA metabolic process| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |positive regulation of biosynthetic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp306|Rapamycin 2μM R07 exp306]]|-2.03| |[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-1.93| |[[:results:exp472|CI-1040 9.5μM R08 exp472]]|-1.88| |[[:results:exp468|CB-5083 0.4μM R08 exp468]]|1.77| |[[:results:exp537|WNT3A 44ng/ml R08 exp537]]|1.9| |[[:results:exp210|LB-100 2μM R05 exp210]]|2.05| |[[:results:exp6|Bortezomib 0.005μM R00 exp6]]|2.25| |[[:results:exp234|Ethanol 0.01 R05 exp234]]|2.79| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/726 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/25| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/15| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/14| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 9169 * **Expression level (log2 read counts)**: 7.18 {{:chemogenomics:nalm6 dist.png?nolink |}}