ATF1 activating transcription factor 1
Gene ID: 466, updated on 5-Mar-2024Gene type: protein coding
Also known as: TREB36; EWS-ATF1; FUS/ATF-1
- See all available tests in GTR for this gene
- Go to complete Gene record for ATF1
- Go to Variation Viewer for ATF1 variants
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. [provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. GeneReviews: Not available | |
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. GeneReviews: Not available | |
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. GeneReviews: Not available |
Genomic context
- Location:
- 12q13.12
- Sequence:
- Chromosome: 12; NC_000012.12 (50763459..50821162)
- Total number of exons:
- 18
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for ATF1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ATF1 database
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.