RFXAP (regulatory factor X associated protein)

2016-08-01  

Identity

HGNC
RFXAP
LOCATION
13q13.3
LOCUSID
5994
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

References

Pubmed IDYearTitleCitations
263374692015Pancreatic cancer-derived exosomes transfer miRNAs to dendritic cells and inhibit RFXAP expression via miR-212-3p.63
187231352008Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.7
152108002004A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression.6
163374822006Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression.5
192747392009Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP.4
183369112008Transcriptional silencing of RFXAP in MHC class II-deficiency.3
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.3
207323282010Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.3

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