Gene: PSRC1
Alternate names for this Gene: DDA3|FP3214
Gene Summary: This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described.
Gene is located in Chromosome: 1
Location in Chromosome : 1p13.3
Description of this Gene: proline and serine rich coiled-coil 1
Type of Gene: protein-coding
rs599839 in
PSRC1 gene and
Apolipoprotein B Assay
PMID 29084231 2017 Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.
rs4970836 in
PSRC1 gene and
Blood Protein Measurement
PMID 29875488 2018 Genomic atlas of the human plasma proteome.
rs599839 in
PSRC1 gene and
Cerebrovascular accident
PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
rs599839 in
PSRC1 gene and
Coronary heart disease
PMID 17634449 2007 The combined analysis of the two studies identified four additional loci significantly associated with coronary artery disease (P<1.3x10(-6)) and a high probability (>80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212).
PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
PMID 21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
rs599839 in
PSRC1 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
rs599839 in
PSRC1 gene and
High density lipoprotein measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs1277930 in
PSRC1 gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 18262040 2008 In our initial scan, we found two SNPs (rs599839 [p=1.7x10(-15)] and rs4970834 [p=3.0x10(-11)]) that showed genome-wide statistical association with LDL cholesterol at chromosomal locus 1p13.3.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
rs599839 in
PSRC1 gene and
Pseudocholinesterase Measurement
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
rs599839 in
PSRC1 gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
rs1277930 in
PSRC1 gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
PMID 18262040 2008 In our initial scan, we found two SNPs (rs599839 [p=1.7x10(-15)] and rs4970834 [p=3.0x10(-11)]) that showed genome-wide statistical association with LDL cholesterol at chromosomal locus 1p13.3.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
rs1277930 in
PSRC1 gene and
Serum albumin measurement
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs1277930 in
PSRC1 gene and
Serum total cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.