Version 5.4
| Homo sapiens Gene: RFX5 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-102358.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | RFX5 | ||||||||||||||||||
| Gene Name | regulatory factor X, 5 (influences HLA class II expression) | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000143390 | ||||||||||||||||||
| Encoded Proteins |
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
regulatory factor X, 5 (influences HLA class II expression)
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 1:151340640-151347357 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q21.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME | |||||||||||||||||||
| KEGG |
Antigen processing and presentation pathway
Primary immunodeficiency pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.632472 Hs.715129 | ||||||||||||||||||
| RefSeq | NM_000449 NM_001025603 XM_005245405 XM_005245406 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS994 | ||||||||||||||||||
| HPRD | 03517 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||