PHRF1 (PHD and ring finger domains 1)

2014-06-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
PPP1R125,RNF221
FUSION GENES

Other Information

Locus ID:

NCBI: 57661
MIM: 611780
HGNC: 24351
Ensembl: ENSG00000070047

Variants:

dbSNP: 57661
ClinVar: 57661
TCGA: ENSG00000070047
COSMIC: PHRF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070047ENST00000264555Q9P1Y6
ENSG00000070047ENST00000264555A0A024RCA1
ENSG00000070047ENST00000413872F8WEF5
ENSG00000070047ENST00000416188Q9P1Y6
ENSG00000070047ENST00000533464E9PJ24
ENSG00000070047ENST00000534320Q9P1Y6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
182044462008Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.488
182044462008Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.488
201123592010Genetic variation at the IRF7/PHRF1 locus is associated with autoantibody profile and serum interferon-alpha activity in lupus patients.62
210680982011Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus.51
208810112011Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.31
208485682010Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.23
209628502011A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.21
239112862013Identification of PHRF1 as a tumor suppressor that promotes the TGF-β cytostatic program through selective release of TGIF-driven PML inactivation.12
258559642015PHRF1 promotes genome integrity by modulating non-homologous end-joining.10
224339142012Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population.8

Citation

Dessen P

PHRF1 (PHD and ring finger domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53938/phrf1