Epigenetics & Nuclear Signaling Antibodies 4
Anti-RFX5 Antibody (CAB6968)
- SKU:
- CAB6968
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Epigenetics and Nuclear Signaling
Description
Antibody Name: | Anti-RFX5 Antibody |
Antibody SKU: | CAB6968 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | IF |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 367-616 of human RFX5 (NP_000440.1). |
Application: | IF |
Recommended Dilution: | IF 1:50 - 1:100 |
Reactivity: | Human |
Positive Samples: |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 367-616 of human RFX5 (NP_000440.1). |
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: | LSSR AGAP PAAV PIIN MILP TVPA LPGP GPGP GRAP PGGL TQPR GTEN REVG IGGD QGPH DKGV KRTA EVPV SEAS GQAP PAKA AKQD IEDT ASDA KRKR GRPR KKSG GSGE RNST PLKS AAAM ESAQ SSRL PWET WGSG GEGN SAGG AERP GPMG EAEK GAVL AQGQ GDGT VSKG GRGP GSQH TKEA EDKI PLVP SKVS VIKG SRSQ KEAF PLAK GEVD TAPQ GNKD LKEH VLQS SLSQ EHKD PKAT PP |
Gene ID: | 5993 |
Uniprot: | P48382 |
Cellular Location: | Nucleus |
Calculated MW: | 60kDa/65kDa |
Observed MW: | Refer to figures |
Synonyms: | RFX5 |
Background: | A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. |
UniProt Protein Function: | RFX5: Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters. Defects in RFX5 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. Belongs to the RFX family. |
UniProt Protein Details: | Protein type:DNA-binding; Transcription factor Chromosomal Location of Human Ortholog: 1q21 Molecular Function:DNA binding; protein binding; transcription factor activity Biological Process: regulation of transcription from RNA polymerase II promoter Disease: Bare Lymphocyte Syndrome, Type Ii |
NCBI Summary: | A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008] |
UniProt Code: | P48382 |
NCBI GenInfo Identifier: | 1350587 |
NCBI Gene ID: | 5993 |
NCBI Accession: | P48382.1 |
UniProt Secondary Accession: | P48382,Q5VWC3, B7Z848, D3DV19, E9PFU4, |
UniProt Related Accession: | P48382 |
Molecular Weight: | 60,513 Da |
NCBI Full Name: | DNA-binding protein RFX5 |
NCBI Synonym Full Names: | regulatory factor X5 |
NCBI Official Symbol: | RFX5 |
NCBI Protein Information: | DNA-binding protein RFX5 |
UniProt Protein Name: | DNA-binding protein RFX5 |
UniProt Synonym Protein Names: | Regulatory factor X 5 |
Protein Family: | DNA-binding protein |
UniProt Gene Name: | RFX5 |
UniProt Entry Name: | RFX5_HUMAN |
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