RFXAP

Last updated
RFXAP
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RFXAP , regulatory factor X associated protein
External IDs OMIM: 601861 MGI: 2180854 HomoloGene: 452 GeneCards: RFXAP
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000538

NM_133231

RefSeq (protein)

NP_000529

NP_573494

Location (UCSC) Chr 13: 36.82 – 36.83 Mb Chr 3: 54.8 – 54.81 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Regulatory factor X-associated protein is a protein that in humans is encoded by the RFXAP gene. [5] [6]

Contents

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. [6]

Interactions

RFXAP has been shown to interact with RFXANK. [7] [8]

Related Research Articles

HLA-DRA

HLA class II histocompatibility antigen, DR alpha chain is a protein that in humans is encoded by the HLA-DRA gene. HLA-DRA encodes the alpha subunit of HLA-DR. Unlike the alpha chains of other Human MHC class II molecules, the alpha subunit is practically invariable. However it can pair with, in any individual, the beta chain from 3 different DR beta loci, DRB1, and two of any DRB3, DRB4, or DRB5 alleles. Thus there is the potential that any given individual can form 4 different HLA-DR isoforms.

Bare lymphocyte syndrome type II Medical condition

Bare lymphocyte syndrome type II is a rare recessive genetic condition in which a group of genes called major histocompatibility complex class II are not expressed. The result is that the immune system is severely compromised and cannot effectively fight infection.

Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.

MHC class II

MHC Class II molecules are a class of major histocompatibility complex (MHC) molecules normally found only on professional antigen-presenting cells such as dendritic cells, mononuclear phagocytes, some endothelial cells, thymic epithelial cells, and B cells. These cells are important in initiating immune responses.

CIITA

CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection. Chromosomal rearrangement of CIITA is involved in the pathogenesis of Hodgkin lymphoma and primary mediastinal B cell lymphoma.

TCF3

Transcription factor 3, also known as TCF3, is a protein that in humans is encoded by the TCF3 gene. TCF3 has been shown to directly enhance Hes1 expression.

NFYB

Nuclear transcription factor Y subunit beta is a protein that in humans is encoded by the NFYB gene.

HLA-DMA

HLA class II histocompatibility antigen, DM alpha chain is a protein that in humans is encoded by the HLA-DMA gene.

RFX1

MHC class II regulatory factor RFX1 is a protein that, in humans, is encoded by the RFX1 gene located on the short arm of chromosome 19.

RFX5

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.

EBF1

Transcription factor COE1 is a protein that in humans is encoded by the EBF1 gene. EBF1 stands for Early B-Cell Factor 1.

HLA-DOA

HLA class II histocompatibility antigen, DO alpha chain is a protein that in humans is encoded by the HLA-DOA gene.

HLA-DOB

HLA class II histocompatibility antigen, DO beta chain is a protein that in humans is encoded by the HLA-DOB gene.

HLA-DQA2

HLA class II histocompatibility antigen, DQ(6) alpha chain is a protein that in humans is encoded by the HLA-DQA2 gene. Also known as HLA-DXA or DAAP-381D23.2, it is part of the human leucocyte antigen system.

RFXANK

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.

RFX2

DNA-binding protein RFX2 is a protein that in humans is encoded by the RFX2 gene.

RFX4

Transcription factor RFX4 is a protein that in humans is encoded by the RFX4 gene.

CD160

CD160 antigen is a protein that in humans is encoded by the CD160 gene.

HLA-DQB2

HLA class II histocompatibility antigen, DX beta chain is a protein that in humans is encoded by the HLA-DQB2 gene.

RFX3

Transcription factor RFX3 is a protein that in humans is encoded by the RFX3 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000133111 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036615 - 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. Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W (April 1997). "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency". EMBO J. 16 (5): 1045–55. doi:10.1093/emboj/16.5.1045. PMC   1169704 . PMID   9118943.
  6. 1 2 "Entrez Gene: RFXAP regulatory factor X-associated protein".
  7. Nekrep, N; Geyer M; Jabrane-Ferrat N; Peterlin B M (August 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Mol. Cell. Biol. United States. 21 (16): 5566–76. doi:10.1128/MCB.21.16.5566-5576.2001. ISSN   0270-7306. PMC   87278 . PMID   11463838.
  8. Nekrep, N; Jabrane-Ferrat N; Peterlin B M (June 2000). "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex". Mol. Cell. Biol. UNITED STATES. 20 (12): 4455–61. doi:10.1128/MCB.20.12.4455-4461.2000. ISSN   0270-7306. PMC   85813 . PMID   10825209.

Further reading