RFXANK

Protein-coding gene in the species Homo sapiens
RFXANK
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3UXG, 3V30, 4QQM

Identifiers
AliasesRFXANK, ANKRA1, BLS, F14150_1, RFX-B, regulatory factor X associated ankyrin containing protein
External IDsOMIM: 603200 MGI: 1333865 HomoloGene: 2760 GeneCards: RFXANK
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for RFXANK
Genomic location for RFXANK
Band19p13.11Start19,192,229 bp[1]
End19,201,869 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for RFXANK
Genomic location for RFXANK
Band8|8 B3.3Start70,583,444 bp[2]
End70,591,804 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • canal of the cervix

  • left uterine tube

  • body of stomach

  • spleen

  • skin of abdomen

  • anterior pituitary

  • stromal cell of endometrium
Top expressed in
  • blood

  • interventricular septum

  • gastric mucosa

  • duodenum

  • epithelium of stomach

  • brown adipose tissue

  • extraocular muscle

  • left colon

  • mucous cell of stomach

  • spermatocyte
More reference expression data
BioGPS
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
SpeciesHumanMouse
Entrez

8625

19727

Ensembl

ENSG00000064490

ENSMUSG00000036120

UniProt

O14593

Q9Z205

RefSeq (mRNA)
NM_001278727
NM_001278728
NM_003721
NM_134440
NM_001370233

NM_001370234
NM_001370235
NM_001370236
NM_001370237
NM_001370238

NM_001025589
NM_011266

RefSeq (protein)
NP_001265656
NP_001265657
NP_003712
NP_604389
NP_001357162

NP_001357163
NP_001357164
NP_001357165
NP_001357166
NP_001357167

NP_001020760
NP_035396

Location (UCSC)Chr 19: 19.19 – 19.2 MbChr 8: 70.58 – 70.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000064490 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "Entrez Gene: RFXANK regulatory factor X-associated ankyrin-containing protein".
  8. ^ 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.
  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.
  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.

Further reading

  • 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.

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
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