Gene: ATF1
Alternate names for this Gene: EWS-ATF1|FUS/ATF-1|TREB36
Gene Summary: This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6.
Gene is located in Chromosome: 12
Location in Chromosome : 12q13.12
Description of this Gene: activating transcription factor 1
Type of Gene: protein-coding
rs11169552 in
ATF1 gene and
Adenocarcinoma of large intestine
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12372718 in
ATF1 gene and
Adenoma of large intestine
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
Colorectal Carcinoma
PMID 20972440 2010 We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰).
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
Colorectal Neoplasms
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12829524 in
ATF1 gene and
Glomerular Filtration Rate
PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.
rs11169552 in
ATF1 gene and
Malignant neoplasm of large intestine
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs11169552 in
ATF1 gene and
Malignant tumor of colon
PMID 20972440 2010 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs17291650 in
ATF1 gene and
Sudden Cardiac Arrest
PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
rs17291650 in
ATF1 gene and
Sudden Cardiac Death
PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
rs4768862 in
ATF1 gene and
Systolic Pressure
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.