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Aliases for RFXANK Gene

Aliases for RFXANK Gene

  • Regulatory Factor X-Associated Ankyrin-Containing Protein 2 3 4
  • Regulatory Factor X Subunit B 2 3 4
  • Ankyrin Repeat-Containing Regulatory Factor X-Associated Protein 2 3
  • Ankyrin Repeat Family A Protein 1 3 4
  • DNA-Binding Protein RFXANK 2 3
  • RFX-Bdelta4 2 3
  • ANKRA1 3 4
  • RFX-B 3 4
  • F14150_1 3
  • RFXB 4
  • BLS 3

External Ids for RFXANK Gene

Previous GeneCards Identifiers for RFXANK Gene

  • GC19P019797
  • GC19P019694
  • GC19P019148
  • GC19P019164
  • GC19P019303
  • GC19P018866

Summaries for RFXANK Gene

Entrez Gene Summary for RFXANK Gene

  • 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]

GeneCards Summary for RFXANK Gene

RFXANK (Regulatory Factor X-Associated Ankyrin-Containing Protein) is a Protein Coding gene. Diseases associated with RFXANK include bare lymphocyte syndrome, type ii, complementation group c and mhc class ii deficiency. Among its related pathways are EGFR1 Signaling Pathway and Tuberculosis. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription cofactor activity. An important paralog of this gene is ANKRA2.

UniProtKB/Swiss-Prot for RFXANK Gene

  • Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes

Gene Wiki entry for RFXANK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFXANK Gene

Genomics for RFXANK Gene

Regulatory Elements for RFXANK Gene

Genomic Location for RFXANK Gene

Start:
19,192,199 bp from pter
End:
19,201,869 bp from pter
Size:
9,671 bases
Orientation:
Plus strand

Genomic View for RFXANK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RFXANK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFXANK Gene

Proteins for RFXANK Gene

  • Protein details for RFXANK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14593-RFXK_HUMAN
    Recommended name:
    DNA-binding protein RFXANK
    Protein Accession:
    O14593
    Secondary Accessions:
    • O95839
    • Q24JQ1
    • Q6FGA8

    Protein attributes for RFXANK Gene

    Size:
    260 amino acids
    Molecular mass:
    28102 Da
    Quaternary structure:
    • The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with MHC2TA to form an active transcriptional complex.

    Three dimensional structures from OCA and Proteopedia for RFXANK Gene

    Alternative splice isoforms for RFXANK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFXANK Gene

Proteomics data for RFXANK Gene at MOPED

Post-translational modifications for RFXANK Gene

  • Ubiquitination at Lys155, Lys204, and Lys96
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for RFXANK Gene

Domains for RFXANK Gene

Gene Families for RFXANK Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for RFXANK Gene

Suggested Antigen Peptide Sequences for RFXANK Gene

Graphical View of Domain Structure for InterPro Entry

O14593

UniProtKB/Swiss-Prot:

RFXK_HUMAN :
  • O14593
Domain:
  • The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP. The three central ANK repeats mediate binding to the PxLPxI/L motif of RFX5
Similarity:
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with RFXANK: view

Function for RFXANK Gene

Molecular function for RFXANK Gene

GENATLAS Biochemistry: transactivating DNA binding regulator,28kDa,component of the RFX complex,involved in MHC class II expression
UniProtKB/Swiss-Prot Function: Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes

Gene Ontology (GO) - Molecular Function for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 9806546
GO:0003712 transcription cofactor activity TAS 10072068
GO:0005515 protein binding --
GO:0042826 histone deacetylase binding IEA --
genes like me logo Genes that share ontologies with RFXANK: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RFXANK Gene

Localization for RFXANK Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFXANK Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFXANK Gene COMPARTMENTS Subcellular localization image for RFXANK gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with RFXANK: view

Pathways for RFXANK Gene

genes like me logo Genes that share pathways with RFXANK: view

Pathways by source for RFXANK Gene

Gene Ontology (GO) - Biological Process for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0007265 Ras protein signal transduction IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with RFXANK: view

Transcripts for RFXANK Gene

Unigene Clusters for RFXANK Gene

Regulatory factor X-associated ankyrin-containing protein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RFXANK

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFXANK Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11
SP1: - - - - -
SP2: - -
SP3: -
SP4: -
SP5: -
SP6: - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10:
SP11:

Relevant External Links for RFXANK Gene

GeneLoc Exon Structure for
RFXANK
ECgene alternative splicing isoforms for
RFXANK

Expression for RFXANK Gene

mRNA expression in normal human tissues for RFXANK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RFXANK Gene

SOURCE GeneReport for Unigene cluster for RFXANK Gene Hs.296776

mRNA Expression by UniProt/SwissProt for RFXANK Gene

O14593-RFXK_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with RFXANK: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RFXANK Gene

Orthologs for RFXANK Gene

This gene was present in the common ancestor of animals.

Orthologs for RFXANK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFXANK 35
  • 99.49 (n)
  • 99.62 (a)
RFXANK 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RFXANK 35
  • 85.38 (n)
  • 90.57 (a)
RFXANK 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFXANK 35
  • 86.41 (n)
  • 93.08 (a)
RFXANK 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfxank 35
  • 83.01 (n)
  • 85.33 (a)
Rfxank 16
Rfxank 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RFXANK 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFXANK 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfxank 35
  • 83.85 (n)
  • 87.31 (a)
chicken
(Gallus gallus)
Aves RFXANK 35
  • 79.03 (n)
  • 91.4 (a)
RFXANK 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfxank 35
  • 67.28 (n)
  • 75 (a)
Str.7350 35
zebrafish
(Danio rerio)
Actinopterygii rfxank 35
  • 65.21 (n)
  • 71.58 (a)
rfxank 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009822 35
  • 48.23 (n)
  • 36.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5846 35
  • 49.07 (n)
  • 36.67 (a)
CG5846 36
  • 29 (a)
OneToMany
Species with no ortholog for RFXANK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RFXANK Gene

ENSEMBL:
Gene Tree for RFXANK (if available)
TreeFam:
Gene Tree for RFXANK (if available)

Paralogs for RFXANK Gene

Paralogs for RFXANK Gene

genes like me logo Genes that share paralogs with RFXANK: view

Variants for RFXANK Gene

Sequence variations from dbSNP and Humsavar for RFXANK Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs8862 -- 19,199,176(+) ACCAC(C/T)GAAGC reference, synonymous-codon
rs3761078 -- 19,198,334(-) TTCTC(A/G)GCACC intron-variant
rs7255275 -- 19,199,120(+) CAGGC(C/T)CCACC intron-variant
rs7256074 -- 19,199,055(+) CTGCA(C/T)TGTGG intron-variant
rs10401713 -- 19,195,338(+) gagac(A/G)gaatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RFXANK Gene

Variant ID Type Subtype PubMed ID
nsv833779 CNV Loss 17160897
nsv911303 CNV Loss 21882294
nsv911304 CNV Loss 21882294
nsv911305 CNV Loss 21882294

Relevant External Links for RFXANK Gene

HapMap Linkage Disequilibrium report
RFXANK
Human Gene Mutation Database (HGMD)
RFXANK
Locus Specific Mutation Databases (LSDB)
RFXANK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFXANK Gene

Disorders for RFXANK Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for RFXANK Gene including...

Search for RFXANK Gene in MalaCards »

(1) OMIM Diseases for RFXANK Gene (603200)

UniProtKB/Swiss-Prot

RFXK_HUMAN
  • Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. {ECO:0000269 PubMed:10072068, ECO:0000269 PubMed:10725724, ECO:0000269 PubMed:9806546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for RFXANK Gene

(3) Novoseek inferred disease relationships for RFXANK Gene

Disease -log(P) Hits PubMed IDs
bare lymphocyte syndrome 95 3
immunodeficiency 57.4 8
severe combined immunodeficiency 47.9 1

Relevant External Links for RFXANK

Genetic Association Database (GAD)
RFXANK
genes like me logo Genes that share disorders with RFXANK: view

Publications for RFXANK Gene

  1. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. (PMID: 9806546) Masternak K. … Reith W. (Nat. Genet. 1998) 2 3 4 23
  2. 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. (PMID: 10725724) Nagarajan U.M. … van den Elsen P.J. (J. Immunol. 2000) 3 4 23
  3. RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. (PMID: 10072068) Nagarajan U.M. … Boss J.M. (Immunity 1999) 2 3 4
  4. Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5. (PMID: 18723135) Garvie C.W. … Boss J.M. (Biochim. Biophys. Acta 2008) 3 23
  5. Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases. (PMID: 15964851) Wang A.H. … Yang X.J. (J. Biol. Chem. 2005) 3 23

Products for RFXANK Gene

Sources for RFXANK Gene

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