PHACTR1 (phosphatase and actin regulator 1)

2013-07-01  

Identity

HGNC
LOCATION
6p24.1
LOCUSID
ALIAS
DEE70,EIEE70,RPEL,RPEL1,dJ257A7.2
FUSION GENES

Other Information

Locus ID:

NCBI: 221692
MIM: 608723
HGNC: 20990
Ensembl: ENSG00000112137

Variants:

dbSNP: 221692
ClinVar: 221692
TCGA: ENSG00000112137
COSMIC: PHACTR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112137ENST00000332995Q9C0D0
ENSG00000112137ENST00000379329Q4VY13
ENSG00000112137ENST00000379335Q4VY12
ENSG00000112137ENST00000379348Q5R356
ENSG00000112137ENST00000379350Q9C0D0
ENSG00000112137ENST00000406205H0Y3U1
ENSG00000112137ENST00000434977A0A0U1RQH5
ENSG00000112137ENST00000434977H0Y7G2

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
230426602012Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations.97
287534272017A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
254201452015Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.41
234797252013MicroRNA-584 and the protein phosphatase and actin regulator 1 (PHACTR1), a new signaling route through which transforming growth factor-β Mediates the migration and actin dynamics of breast cancer cells.27
219397552012Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells.26
227456742012Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis.17
277927902016PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.16

Citation

Dessen P

PHACTR1 (phosphatase and actin regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53441/phactr1