Homo sapiens Gene: RFXANK | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-39533.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | RFXANK | ||||||||||||||||||||||
Gene Name | regulatory factor X-associated ankyrin-containing protein | ||||||||||||||||||||||
Synonyms | ANKRA1; BLS; F14150_1; RFX-B | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000064490 | ||||||||||||||||||||||
Encoded Proteins |
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
regulatory factor X-associated ankyrin-containing protein
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
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. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 19:19192229-19201869 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | p13.11 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 6 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
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH |
EGFR1 pathway
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REACTOME | |||||||||||||||||||||||
KEGG |
Antigen processing and presentation pathway
Primary immunodeficiency pathway
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INOH | |||||||||||||||||||||||
PID NCI |
Signaling events mediated by HDAC Class II
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | H0YFZ0 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 8625 | ||||||||||||||||||||||
UniGene | |||||||||||||||||||||||
RefSeq | NM_001278727 NM_001278728 NM_003721 NM_134440 XM_005260134 XM_005260135 XM_005260136 XM_005260137 XM_006722930 | ||||||||||||||||||||||
HUGO | HGNC:9987 | ||||||||||||||||||||||
OMIM | 603200 | ||||||||||||||||||||||
CCDS | CCDS12395 CCDS12396 CCDS62611 | ||||||||||||||||||||||
HPRD | 04435 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC002126 AC003110 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 8625 | ||||||||||||||||||||||