Bos taurus Gene: RFX5 | |||||||
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Summary | |||||||
InnateDB Gene | IDBG-633118.3 | ||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
Gene Symbol | RFX5 | ||||||
Gene Name | DNA-binding protein RFX5 | ||||||
Synonyms | |||||||
Species | Bos taurus | ||||||
Ensembl Gene | ENSBTAG00000017580 | ||||||
Encoded Proteins |
regulatory factor X, 5 (influences HLA class II expression)
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Protein Structure | |||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||
Entrez Gene | |||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000143390:
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 3:19505669-19510571 | ||||||
Strand | Forward strand | ||||||
Band | |||||||
Transcripts |
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Interactions | |||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
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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 | |||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Pathway Predictions based on Human Orthology Data | |||||||
NETPATH | |||||||
REACTOME | |||||||
KEGG |
Antigen processing and presentation pathway
Primary immunodeficiency pathway
Antigen processing and presentation pathway
Primary immunodeficiency pathway
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INOH | |||||||
PID NCI | |||||||
Cross-References | |||||||
SwissProt | |||||||
TrEMBL | E1BGG6 | ||||||
UniProt Splice Variant | |||||||
Entrez Gene | 539884 | ||||||
UniGene | Bt.61172 | ||||||
RefSeq | NM_001205726 XM_005203928 XM_005203929 | ||||||
HUGO | HGNC:9986 | ||||||
OMIM | |||||||
CCDS | |||||||
HPRD | |||||||
IMGT | |||||||
EMBL | DAAA02007251 | ||||||
GenPept | |||||||
RNA Seq Atlas | 539884 | ||||||