RFX5 (regulatory factor X5)

2017-04-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 5993
MIM: 601863
HGNC: 9986
Ensembl: ENSG00000143390

Variants:

dbSNP: 5993
ClinVar: 5993
TCGA: ENSG00000143390
COSMIC: RFX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143390ENST00000290524P48382
ENSG00000143390ENST00000368870P48382
ENSG00000143390ENST00000392746F8W689
ENSG00000143390ENST00000412774A0A0A0MSM9
ENSG00000143390ENST00000421986F8WFE4
ENSG00000143390ENST00000422595A0A0A0MSQ2
ENSG00000143390ENST00000430227F6X9D6
ENSG00000143390ENST00000435314F8WDU3
ENSG00000143390ENST00000436271F6S3S0
ENSG00000143390ENST00000436637H0Y4B4
ENSG00000143390ENST00000437327A0A0A0MT34
ENSG00000143390ENST00000444392F2Z2G0
ENSG00000143390ENST00000450506F6UE82
ENSG00000143390ENST00000452456F2Z2G0
ENSG00000143390ENST00000452671P48382
ENSG00000143390ENST00000458484F6R6G4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
190413272009HDAC2 deacetylates class II transactivator and suppresses its activity in macrophages and smooth muscle cells.22
119863072002The RFX family interacts at the collagen (COL1A2) start site and represses transcription.15
164648472006Regulatory factor for X-box family proteins differentially interact with histone deacetylases to repress collagen alpha2(I) gene (COL1A2) expression.12
176111942007Peroxisome proliferator-activated receptor gamma interacts with CIITA x RFX5 complex to repress type I collagen gene expression.11
129680172003Interferon gamma repression of collagen (COL1A2) transcription is mediated by the RFX5 complex.10
187231352008Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.7
230796212012SIRT1 deacetylates RFX5 and antagonizes repression of collagen type I (COL1A2) transcription in smooth muscle cells.7
152108002004A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression.6
123689082002Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.4

Citation

Dessen P

RFX5 (regulatory factor X5)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56872/rfx5