RFXANK

RFXANK
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3UXG, 3V30, 4QQM
Identifiers
Aliases	RFXANK, ANKRA1, BLS, F14150_1, RFX-B, regulatory factor X associated ankyrin containing protein
External IDs	OMIM: 603200; MGI: 1333865; HomoloGene: 2760; GeneCards: RFXANK; OMA:RFXANK - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	19,201,869 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	70,591,804 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; right uterine tube; ; right lobe of thyroid gland; ; ventricular zone; ; left lobe of thyroid gland; ; olfactory zone of nasal mucosa; ; granulocyte; ; canal of the cervix; ; apex of heart; ; right ovary;
	Top expressed in
	granulocyte; ; blood; ; interventricular septum; ; cardiac muscle tissue of left ventricle; ; gastric mucosa; ; duodenum; ; lumbar subsegment of spinal cord; ; epithelium of stomach; ; ventricular zone; ; brown adipose tissue;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription factor activity; DNA binding; transcription coregulator activity; histone deacetylase binding;
Cellular component	nucleus; nucleoplasm; intercellular bridge; cytoplasm; cytosol;
Biological process	regulation of transcription by RNA polymerase II; regulation of transcription, DNA-templated; transcription, DNA-templated; Ras protein signal transduction; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	8625
	19727
	ENSG00000064490
	ENSMUSG00000036120
	O14593
	Q9Z205
NM_001278727; NM_001278728; NM_003721; NM_134440; NM_001370233;
	NM_001370234; NM_001370235; NM_001370236; NM_001370237; NM_001370238
	NM_001025589; NM_011266
NP_001265656; NP_001265657; NP_003712; NP_604389; NP_001357162;
	NP_001357163; NP_001357164; NP_001357165; NP_001357166; NP_001357167
	NP_001020760; NP_035396
	Wikidata
View/Edit Human	View/Edit Mouse

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.^[5]^[6]^[7]

Function

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.^[7]

Interactions

RFXANK has been shown to interact with RFXAP^[8]^[9] and CIITA.^[8]^[10]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000064490 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036120 – 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.
^ Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W (Nov 1998). "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients". Nature Genetics. 20 (3): 273–7. doi:10.1038/3081. PMID 9806546. S2CID 23780606.
^ Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM (Feb 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.
^ ^a ^b "Entrez Gene: RFXANK regulatory factor X-associated ankyrin-containing protein".
^ ^a ^b Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM (Aug 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Molecular and Cellular Biology. 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. PMC 87278. PMID 11463838.
^ Nekrep N, Jabrane-Ferrat N, Peterlin BM (Jun 2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Molecular and Cellular Biology. 20 (12): 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. PMC 85813. PMID 10825209.
^ Hake SB, Masternak K, Kammerbauer C, Janzen C, Reith W, Steimle V (Oct 2000). "CIITA leucine-rich repeats control nuclear localization, in vivo recruitment to the major histocompatibility complex (MHC) class II enhanceosome, and MHC class II gene transactivation". Molecular and Cellular Biology. 20 (20): 7716–25. doi:10.1128/MCB.20.20.7716-7725.2000. PMC 86349. PMID 11003667.

Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Lin JH, Makris A, McMahon C, Bear SE, Patriotis C, Prasad VR, Brent R, Golemis EA, Tsichlis PN (May 1999). "The ankyrin repeat-containing adaptor protein Tvl-1 is a novel substrate and regulator of Raf-1". The Journal of Biological Chemistry. 274 (21): 14706–15. doi:10.1074/jbc.274.21.14706. hdl:20.500.12613/9172. PMID 10329666.
Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ (Apr 2000). "Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells". Journal of Immunology. 164 (7): 3666–74. doi:10.4049/jimmunol.164.7.3666. PMID 10725724.
Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B (Apr 2000). "Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B". Immunogenetics. 51 (4–5): 261–7. doi:10.1007/s002510050619. PMID 10803838. S2CID 630411.
Nekrep N, Jabrane-Ferrat N, Peterlin BM (Jun 2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Molecular and Cellular Biology. 20 (12): 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. PMC 85813. PMID 10825209.
Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (Oct 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM (Aug 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Molecular and Cellular Biology. 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. PMC 87278. PMID 11463838.
Dimberg J, Hugander A, Häll-Karlsson BM, Sirsjö A (Mar 2002). "RFX-B, a MHC class II transcription factor, suppressed in human colorectal adenocarcinomas". International Journal of Molecular Medicine. 9 (3): 213–6. doi:10.3892/ijmm.9.3.213. PMID 11836625.
Wiszniewski W, Fondaneche MC, Louise-Plence P, Prochnicka-Chalufour A, Selz F, Picard C, Le Deist F, Eliaou JF, Fischer A, Lisowska-Grospierre B (Feb 2003). "Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II". Immunogenetics. 54 (11): 747–55. doi:10.1007/s00251-002-0521-1. PMID 12618906. S2CID 32423001.
Wang AH, Grégoire S, Zika E, Xiao L, Li CS, Li H, Wright KL, Ting JP, Yang XJ (Aug 2005). "Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases". The Journal of Biological Chemistry. 280 (32): 29117–27. doi:10.1074/jbc.M500295200. PMID 15964851.
Krawczyk M, Masternak K, Zufferey M, Barras E, Reith W (Oct 2005). "New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study". Molecular and Cellular Biology. 25 (19): 8607–18. doi:10.1128/MCB.25.19.8607-8618.2005. PMC 1265745. PMID 16166641.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000064490 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036120 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9806546-5] Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W (Nov 1998). "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients". Nature Genetics. 20 (3): 273–7. doi:10.1038/3081. PMID 9806546. S2CID 23780606.

[pmid10072068-6] Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM (Feb 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.

[entrez-7] "Entrez Gene: RFXANK regulatory factor X-associated ankyrin-containing protein".

[pmid11463838-8] Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM (Aug 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Molecular and Cellular Biology. 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. PMC 87278. PMID 11463838.

[pmid10825209-9] Nekrep N, Jabrane-Ferrat N, Peterlin BM (Jun 2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Molecular and Cellular Biology. 20 (12): 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. PMC 85813. PMID 10825209.

[pmid11003667-10] Hake SB, Masternak K, Kammerbauer C, Janzen C, Reith W, Steimle V (Oct 2000). "CIITA leucine-rich repeats control nuclear localization, in vivo recruitment to the major histocompatibility complex (MHC) class II enhanceosome, and MHC class II gene transactivation". Molecular and Cellular Biology. 20 (20): 7716–25. doi:10.1128/MCB.20.20.7716-7725.2000. PMC 86349. PMID 11003667.

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Function

Interactions

References

Further reading