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Aliases for RFXAP Gene

Aliases for RFXAP Gene

  • Regulatory Factor X Associated Protein 2 3 5
  • Regulatory Factor X-Associated Protein 2
  • RFX DNA-Binding Complex 36 KDa Subunit 4
  • RFX-Associated Protein 4

External Ids for RFXAP Gene

Previous GeneCards Identifiers for RFXAP Gene

  • GC13P035379
  • GC13P031379
  • GC13P036329
  • GC13P035191
  • GC13P036291
  • GC13P037393
  • GC13P018207

Summaries for RFXAP Gene

Entrez Gene Summary for RFXAP 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 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for RFXAP Gene

RFXAP (Regulatory Factor X Associated Protein) is a Protein Coding gene. Diseases associated with RFXAP include Immunodeficiency By Defective Expression Of Hla Class 2 and Bare Lymphocyte Syndrome, Type Ii, Complementation Group C. Among its related pathways are Primary immunodeficiency and Allograft rejection. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription coactivator activity.

UniProtKB/Swiss-Prot for RFXAP Gene

  • Part of the RFX complex that binds to the X-box of MHC II promoters.

Gene Wiki entry for RFXAP Gene

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

Genomics for RFXAP Gene

Regulatory Elements for RFXAP Gene

Enhancers for RFXAP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RFXAP on UCSC Golden Path with GeneCards custom track

Promoters for RFXAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RFXAP on UCSC Golden Path with GeneCards custom track

Genomic Location for RFXAP Gene

Chromosome:
13
Start:
36,819,202 bp from pter
End:
36,829,603 bp from pter
Size:
10,402 bases
Orientation:
Plus strand

Genomic View for RFXAP Gene

Genes around RFXAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFXAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFXAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFXAP Gene

Proteins for RFXAP Gene

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

    Protein Symbol:
    O00287-RFXAP_HUMAN
    Recommended name:
    Regulatory factor X-associated protein
    Protein Accession:
    O00287
    Secondary Accessions:
    • B2R9T8
    • Q5VZM6
    • Q8TC40

    Protein attributes for RFXAP Gene

    Size:
    272 amino acids
    Molecular mass:
    28232 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 CIITA to form an active transcriptional complex.

    Three dimensional structures from OCA and Proteopedia for RFXAP Gene

neXtProt entry for RFXAP Gene

Proteomics data for RFXAP Gene at MOPED

Post-translational modifications for RFXAP Gene

Other Protein References for RFXAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RFXAP Gene

Domains & Families for RFXAP Gene

Protein Domains for RFXAP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RFXAP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00287

UniProtKB/Swiss-Prot:

RFXAP_HUMAN :
  • The C-terminal domain is necessary for the RFX complex formation.
Domain:
  • The C-terminal domain is necessary for the RFX complex formation.
genes like me logo Genes that share domains with RFXAP: view

No data available for Gene Families for RFXAP Gene

Function for RFXAP Gene

Molecular function for RFXAP Gene

GENATLAS Biochemistry:
transactivating DNA binding regulatory factor,component AP,36kDa,involved in MHC class II expression,subunit of the RFX complex,interacting with RFX5
UniProtKB/Swiss-Prot Function:
Part of the RFX complex that binds to the X-box of MHC II promoters.
genes like me logo Genes that share phenotypes with RFXAP: view

Human Phenotype Ontology for RFXAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RFXAP Gene

Localization for RFXAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFXAP Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFXAP Gene COMPARTMENTS Subcellular localization image for RFXAP gene
Compartment Confidence
nucleus 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for RFXAP Gene

Pathways & Interactions for RFXAP Gene

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

Pathways by source for RFXAP Gene

Gene Ontology (GO) - Biological Process for RFXAP Gene

None

No data available for SIGNOR curated interactions for RFXAP Gene

Drugs & Compounds for RFXAP Gene

No Compound Related Data Available

Transcripts for RFXAP Gene

mRNA/cDNA for RFXAP Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(46) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RFXAP Gene

Regulatory factor X-associated protein:
Representative Sequences:

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

No ASD Table

Relevant External Links for RFXAP Gene

GeneLoc Exon Structure for
RFXAP
ECgene alternative splicing isoforms for
RFXAP

Expression for RFXAP Gene

mRNA expression in normal human tissues for RFXAP Gene

Protein differential expression in normal tissues from HIPED for RFXAP Gene

This gene is overexpressed in Blymphocyte (23.3), Peripheral blood mononuclear cells (8.8), CD8 Tcells (7.8), and Thyroid (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RFXAP Gene



SOURCE GeneReport for Unigene cluster for RFXAP Gene Hs.24422

mRNA Expression by UniProt/SwissProt for RFXAP Gene

O00287-RFXAP_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with RFXAP: view

Protein tissue co-expression partners for RFXAP Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RFXAP Gene

Orthologs for RFXAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for RFXAP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RFXAP 35
  • 87.58 (n)
  • 87.45 (a)
RFXAP 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFXAP 35
  • 88.74 (n)
  • 87.45 (a)
RFXAP 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfxap 35
  • 78.22 (n)
  • 76.24 (a)
Rfxap 16
Rfxap 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RFXAP 35
  • 99.14 (n)
  • 98.9 (a)
RFXAP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfxap 35
  • 83.73 (n)
  • 86.75 (a)
oppossum
(Monodelphis domestica)
Mammalia RFXAP 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFXAP 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFXAP 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20047 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.30365 35
zebrafish
(Danio rerio)
Actinopterygii Dr.12444 35
rfxap 36
  • 50 (a)
OneToOne
Species with no ortholog for RFXAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 RFXAP Gene

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

Paralogs for RFXAP Gene

No data available for Paralogs for RFXAP Gene

Variants for RFXAP Gene

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

Variant ID Type Subtype PubMed ID
nsv899993 CNV Gain 21882294
nsv522336 CNV Gain 19592680

Variation tolerance for RFXAP Gene

Gene Damage Index Score: 0.98; 20.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFXAP Gene

Human Gene Mutation Database (HGMD)
RFXAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for RFXAP Gene

Disorders for RFXAP Gene

MalaCards: The human disease database

(6) MalaCards diseases for RFXAP Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency by defective expression of hla class 2
  • bare lymphocyte syndrome 2
bare lymphocyte syndrome, type ii, complementation group c
  • bare lymphocyte syndrome, type ii, complementation group e
mhc class ii deficiency
  • severe combined immunodeficiency
mhc class i deficiency
  • bare lymphocyte syndrome, type i
severe combined immunodeficiency
  • adenosine deaminase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search RFXAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RFXAP_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:9118943}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RFXAP

Genetic Association Database (GAD)
RFXAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFXAP
genes like me logo Genes that share disorders with RFXAP: view

No data available for Genatlas for RFXAP Gene

Publications for RFXAP Gene

  1. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. (PMID: 9118943) Durand B. … Reith W. (EMBO J. 1997) 2 3 4 23 67
  2. Coordinate loss of MHC class II expression in the diffuse large B cell lymphoma cell line OCI-Ly2 is due to a novel mutation in RFX-AP. (PMID: 20024540) Bushway M. … Murphy S.P. (Immunogenetics 2010) 3 23
  3. Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP. (PMID: 19274739) Briggs L. … Garvie C.W. (Proteins 2009) 3 23
  4. Transcriptional silencing of RFXAP in MHC class II-deficiency. (PMID: 18336911) van Eggermond M.C. … van den Elsen P.J. (Mol. Immunol. 2008) 3 23
  5. 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

Products for RFXAP Gene

Sources for RFXAP Gene

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