Protein-coding gene in the species Homo sapiens
| RFXAP |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| Identifiers |
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| Aliases | RFXAP, regulatory factor X associated protein |
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| External IDs | OMIM: 601861; MGI: 2180854; HomoloGene: 452; GeneCards: RFXAP; OMA:RFXAP - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 13 (human)[1] |
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| | Band | 13q13.3 | Start | 36,819,222 bp[1] |
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| End | 36,829,104 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 3 (mouse)[2] |
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| | Band | 3|3 C | Start | 54,710,536 bp[2] |
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| End | 54,715,212 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - gonad
- tendon of biceps brachii
- testicle
- ventricular zone
- palpebral conjunctiva
- mucosa of paranasal sinus
- gastric mucosa
- cerebellar hemisphere
- right hemisphere of cerebellum
- ganglionic eminence
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| | Top expressed in | - spermatocyte
- ventricular zone
- granulocyte
- dentate gyrus of hippocampal formation granule cell
- muscle of thigh
- Paneth cell
- thymus
- neural layer of retina
- right kidney
- cerebellar cortex
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| | More reference expression data |
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| BioGPS | 
 | | More reference expression data |
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| Gene ontology |
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| Molecular function | - transcription coactivator activity
- DNA-binding transcription factor activity
- DNA binding
| | Cellular component | | | Biological process | - positive regulation of transcription, DNA-templated
| | Sources:Amigo / QuickGO |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Regulatory factor X-associated protein is a protein that in humans is encoded by the RFXAP gene.[5][6]
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 ankyrin-containing 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. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene.[6]
Interactions
RFXAP has been shown to interact with RFXANK.[7][8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000133111 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036615 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W (April 1997). "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency". EMBO J. 16 (5): 1045–55. doi:10.1093/emboj/16.5.1045. PMC 1169704. PMID 9118943.
- ^ a b "Entrez Gene: RFXAP regulatory factor X-associated protein".
- ^ Nekrep, N; Geyer M; Jabrane-Ferrat N; Peterlin B M (August 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Mol. Cell. Biol. 21 (16). United States: 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. ISSN 0270-7306. PMC 87278. PMID 11463838.
- ^ Nekrep, N; Jabrane-Ferrat N; Peterlin B M (June 2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Mol. Cell. Biol. 20 (12). UNITED STATES: 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. ISSN 0270-7306. PMC 85813. PMID 10825209.
Further reading
- Mach B, Steimle V, Martinez-Soria E, Reith W (1996). "Regulation of MHC class II genes: lessons from a disease". Annu. Rev. Immunol. 14: 301–31. doi:10.1146/annurev.immunol.14.1.301. PMID 8717517.
- Reith W, Mach B (2001). "The bare lymphocyte syndrome and the regulation of MHC expression". Annu. Rev. Immunol. 19: 331–73. doi:10.1146/annurev.immunol.19.1.331. PMID 11244040.
- Reith W, Siegrist CA, Durand B, et al. (1994). "Function of major histocompatibility complex class II promoters requires cooperative binding between factors RFX and NF-Y". Proc. Natl. Acad. Sci. U.S.A. 91 (2): 554–8. Bibcode:1994PNAS...91..554R. doi:10.1073/pnas.91.2.554. PMC 42987. PMID 8290561.
- Villard J, Lisowska-Grospierre B, van den Elsen P, et al. (1997). "Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency". N. Engl. J. Med. 337 (11): 748–53. doi:10.1056/NEJM199709113371104. PMID 9287230.
- Gobin SJ, Peijnenburg A, van Eggermond M, et al. (1998). "The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes". Immunity. 9 (4): 531–41. doi:10.1016/S1074-7613(00)80636-6. PMID 9806639.
- Nagarajan UM, Louis-Plence P, DeSandro A, et al. (1999). "RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency". Immunity. 10 (2): 153–62. doi:10.1016/S1074-7613(00)80016-3. PMID 10072068.
- Nekrep N, Jabrane-Ferrat N, Peterlin BM (2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Mol. Cell. Biol. 20 (12): 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. PMC 85813. PMID 10825209.
- Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM (2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Mol. Cell. Biol. 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. PMC 87278. PMID 11463838.
- Kutsenko AS, Gizatullin RZ, Al-Amin AN, et al. (2002). "NotI flanking sequences: a tool for gene discovery and verification of the human genome". Nucleic Acids Res. 30 (14): 3163–70. doi:10.1093/nar/gkf428. PMC 135748. PMID 12136098.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Nagarajan UM, Long AB, Harreman MT, et al. (2004). "A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression". J. Immunol. 173 (1): 410–9. doi:10.4049/jimmunol.173.1.410. PMID 15210800.
- Mudhasani R, Fontes JD (2005). "Multiple interactions between BRG1 and MHC class II promoter binding proteins". Mol. Immunol. 42 (6): 673–82. doi:10.1016/j.molimm.2004.09.021. PMID 15781111.
- Long AB, Ferguson AM, Majumder P, et al. (2006). "Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression". Mol. Immunol. 43 (5): 395–409. doi:10.1016/j.molimm.2005.03.008. PMID 16337482.
