Cell Biology Antibodies 12

Anti-RFXAP Antibody (CAB9411)

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SKU:
CAB9411
Product Type:
Antibody
Applications:
WB
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology

Description

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Antibody Name:Anti-RFXAP Antibody
Antibody SKU:CAB9411
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-272 of human RFXAP (NP_000529.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse
Positive Samples:
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-272 of human RFXAP (NP_000529.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MEAQ GVAE GAGP GAAS GVPH PAAL APAA APTL APAS VAAA ASQF TLLV MQPC AGQD EAAA PGGS VGAG KPVR YLCE GAGD GEEE AGED EADL LDTS DPPG GGES AASL EDLE DEET HSGG EGSS GGAR RRGS GGGS MSKT CTYE GCSE TTSQ VAKQ RKPW MCKK HRNK MYKD KYKK KKSD QALN CGGT ASTG SAGN VKLE ESAD NILS IVKQ RTGS FGDR PARP TLLE QVLN QKRL SLLR SPEV VQFL QKQQ QLLN QQVL EQRQ QQFP GTSM
Gene ID:5994
Uniprot:O00287
Cellular Location:Nucleus
Calculated MW:28kDa
Observed MW:Refer to figures
Synonyms:RFXAP
Background: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.
UniProt Protein Function:RFXAP: Part of the RFX complex that binds to the X-box of MHC II promoters. Defects in RFXAP are a cause of bare lymphocyte syndrome type 2 (BLS2); also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is 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.
UniProt Protein Details:

Protein type:DNA-binding

Chromosomal Location of Human Ortholog: 13q13.3

Cellular Component: nuclear speck; nucleus

Molecular Function:DNA binding; transcription coactivator activity

Biological Process: positive regulation of transcription, DNA-dependent

Disease: Bare Lymphocyte Syndrome, Type Ii

NCBI Summary: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]
UniProt Code:O00287
NCBI GenInfo Identifier:3287900
NCBI Gene ID:5994
NCBI Accession:O00287.1
UniProt Secondary Accession:O00287,Q5VZM6, Q8TC40, B2R9T8,
UniProt Related Accession:O00287
Molecular Weight:28kDa
NCBI Full Name:Regulatory factor X-associated protein
NCBI Synonym Full Names:regulatory factor X associated protein
NCBI Official Symbol:RFXAP  
NCBI Protein Information:regulatory factor X-associated protein
UniProt Protein Name:Regulatory factor X-associated protein
UniProt Synonym Protein Names:RFX DNA-binding complex 36 kDa subunit
Protein Family:Regulatory factor X-associated protein
UniProt Gene Name:RFXAP  
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