PSRC1 (proline and serine rich coiled-coil 1)

2003-02-01  

Identity

HGNC
PSRC1
LOCATION
1p13.3
LOCUSID
84722
ALIAS
DDA3,FP3214
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84722
MIM: 613126
HGNC: 24472
Ensembl: ENSG00000134222

Variants:

dbSNP: 84722
ClinVar: 84722
TCGA: ENSG00000134222
COSMIC: PSRC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134222ENST00000369903Q6PGN9
ENSG00000134222ENST00000369903A0A024R099
ENSG00000134222ENST00000369904Q6PGN9
ENSG00000134222ENST00000369907Q6PGN9
ENSG00000134222ENST00000369907A0A024R099
ENSG00000134222ENST00000369909Q6PGN9
ENSG00000134222ENST00000369909A0A024R099
ENSG00000134222ENST00000409138Q6PGN9
ENSG00000134222ENST00000409267Q6PGN9
ENSG00000134222ENST00000409267A0A024R099
ENSG00000134222ENST00000418914Q5T2Z0
ENSG00000134222ENST00000429031Q5T2Z1
ENSG00000134222ENST00000474126S4R3S8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
181930442008Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.575
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
181798922008Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.190
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
196607542010Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease.44
194875392009Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.35
203709132010Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data.35
204428572010Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.30
200315912009Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.29

Citation

Dessen P

PSRC1 (proline and serine rich coiled-coil 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40277/psrc1