Property Summary

NCBI Gene PubMed Count 54
PubMed Score 59.06
PubTator Score 37.46

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
non-small cell lung cancer 2798 1.23313892344777E-39
lung adenocarcinoma 2714 8.32132359271833E-15
oligodendroglioma 2849 1.3280556130465E-12
malignant mesothelioma 3163 3.50514096912435E-9
atypical teratoid / rhabdoid tumor 4369 4.32228738781671E-8
osteosarcoma 7933 7.05178548155101E-8
ovarian cancer 8492 4.64790959690308E-6
hepatocellular carcinoma 550 2.13756698556774E-5
pilocytic astrocytoma 3086 2.44865556807034E-5
glioblastoma 5572 4.79131506961318E-5
pediatric high grade glioma 2712 7.06588040902997E-5
posterior fossa group A ependymoma 1511 2.65215610064384E-4
tuberculosis 1563 2.8458207936051E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 3.1936972482609E-4
lung cancer 4473 3.44322411227981E-4
primary Sjogren syndrome 789 0.00143778231184675
medulloblastoma, large-cell 6234 0.00157988170448882
ulcerative colitis 2087 0.00166300559111547
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00167078268600603
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0037683423855912
gastric cancer 436 0.00454958179472756
primitive neuroectodermal tumor 3031 0.0075962370659751
medulloblastoma 1524 0.0093373659412055
astrocytic glioma 2241 0.0118939623078471
subependymal giant cell astrocytoma 2287 0.0126658967578936
Pick disease 1893 0.0205858564544434
progressive supranuclear palsy 674 0.0312117582521083

Expression

Synonym

Accession Q9C0D0 A8K1V2 Q3MJ93 Q5JSJ2
Symbols RPEL
RPEL1
dJ257A7.2

Gene

  Ortholog (8)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Xenopus OMA EggNOG Inparanoid

Gene RIF (12)

PMID Text
26362351 our result highlighted the pivotal role of phactr-1 protein in the pathogenesis of atherosclerosis.
26086777 The rs12526453 CC homozygotes (previously associated with increased risk of myocardial infarction) showed, in 2 independent samples, better long-term survival.
25420145 GWAS analysis of 1,393 cervical artery dissection cases and 14,416 controls showed that the rs9349379[G] allele was associated with lower risk. This was confirmed independent follow-up samples.
23479725 a novel signaling route whereby TGF-beta silences the expression of miR-584, resulting in enhanced PHACTR1 expression, and further leading to actin rearrangement and breast cancer cell migration.
23042660 3 loci from related cardiovascular genomewide studies were significant: PHACTR1 in large-vessel disease (P=2.63e(-6)), PITX2 in cardioembolic stroke (P=4.78e(-8)), and ZFHX3 in cardioembolic stroke (P=5.50e(-7)).
22745674 Results from this GWAS support a central role of PHACTR1 in CAD susceptibility irrespective of lifestyle and ethnic divergences.
21939755 Phactr-1 is a key component in the angiogenic process
21798305 Findings suggest that PHACTR-1 is likely to be a key regulator of endothelial cell function properties.
20971364 Observational study of gene-disease association. (HuGE Navigator)
20738937 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
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AA Sequence

MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTP      1 - 70
YLAEARISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAAL     71 - 140
ERKISMRQSREELIKRGVLKEIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYE    141 - 210
VLQPSDIMDGPDPGAPVKLPCLPVKLSPPLPPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLP    211 - 280
SQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDG    281 - 350
VTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCR    351 - 420
KDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQ    421 - 490
EEKREIKRRLTRKLSQRPTVEELRERKILIRFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEF    491 - 560
KSTEMEVHELSRHLTRFHRP                                                      561 - 580
//

Text Mined References (56)

PMID Year Title
26982883 2016 Genetics of Coronary Artery Disease in Taiwan: A Cardiometabochip Study by the Taichi Consortium.
26789557 2016 Common genetic variants and subclinical atherosclerosis: The Multi-Ethnic Study of Atherosclerosis (MESA).
26362351 2015 Disruption of phactr-1 pathway triggers pro-inflammatory and pro-atherogenic factors: New insights in atherosclerosis development.
26118123 2015 Microarray analysis of differentially expressed genes regulating lipid metabolism during melanoma progression.
26102785 2015 1A.10: ASSOCIATION BETWEEN GENE POLYMORPHISMS AND RISK OF CARDIOVASCULAR EVENTS IN PATIENTS WITH CORONARY HEART DISEASE.
26098115 2015 The Early-Onset Myocardial Infarction Associated PHACTR1 Gene Regulates Skeletal and Cardiac Alpha-Actin Gene Expression.
26086777 2015 The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction.
26039976 2015 Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.
25995042 2015 PHACTR1: Functional Clues Linking a Genome-Wide Association Study Locus to Coronary Artery Disease.
25938970 2015 Clouded Issues for PHACTR1.
More...