RFXAP (regulatory factor X associated protein)

2016-08-01  

Identity

HGNC
LOCATION
13q13.3
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 5994
MIM: 601861
HGNC: 9988
Ensembl: ENSG00000133111

Variants:

dbSNP: 5994
ClinVar: 5994
TCGA: ENSG00000133111
COSMIC: RFXAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133111ENST00000255476O00287

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Antigen processing and presentationKEGGko04612
Primary immunodeficiencyKEGGko05340
Antigen processing and presentationKEGGhsa04612
Primary immunodeficiencyKEGGhsa05340
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152

References

Pubmed IDYearTitleCitations
330934612020Fisetin inhibits proliferation of pancreatic adenocarcinoma by inducing DNA damage via RFXAP/KDM4A-dependent histone H3K36 demethylation.18
330934612020Fisetin inhibits proliferation of pancreatic adenocarcinoma by inducing DNA damage via RFXAP/KDM4A-dependent histone H3K36 demethylation.18
263374692015Pancreatic cancer-derived exosomes transfer miRNAs to dendritic cells and inhibit RFXAP expression via miR-212-3p.145
263374692015Pancreatic cancer-derived exosomes transfer miRNAs to dendritic cells and inhibit RFXAP expression via miR-212-3p.145
200245402010Coordinate 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.4
207323282010Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.4
200245402010Coordinate 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.4
207323282010Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.4
192747392009Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP.5
192747392009Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP.5
183369112008Transcriptional silencing of RFXAP in MHC class II-deficiency.4
187231352008Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.12
183369112008Transcriptional silencing of RFXAP in MHC class II-deficiency.4
187231352008Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.12
163374822006Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression.6

Citation

Dessen P

RFXAP (regulatory factor X associated protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55873/rfxap-(regulatory-factor-x-associated-protein)