ATF1
activating transcription factor 1
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]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11169552 | 12:51,155,663 | C/G | — | — |
| rs61926301 | 12:51,157,863 | G/T | — | benign |
| rs9943712 | 12:51,160,715 | C/A | — | — |
| rs12829524 | 12:51,161,744 | C/T | regulatory region variant | — |
| rs61926302 | 12:51,164,363 | T/C | intron variant | — |
| rs7959129 | 12:51,169,108 | T/G | — | benign |
| rs1941024919 | 12:51,173,969 | C/T | — | uncertain significance |
| rs11169562 | 12:51,187,290 | C/T | intron variant | — |
| rs138054326 | 12:51,189,757 | A/C | — | uncertain significance |
| rs748778599 | 12:51,189,780 | G/A | — | uncertain significance |
| rs10783389 | 12:51,190,606 | C/T | intron variant | — |
| rs35624680 | 12:51,201,607 | T/G | — | — |
| rs34863430 | 12:51,201,758 | A/G | upstream gene variant | — |
| rs1343110744 | 12:51,203,322 | C/T | — | uncertain significance |
| rs369352834 | 12:51,203,333 | G/A | — | uncertain significance |
| rs1941691636 | 12:51,203,360 | A/G | — | uncertain significance |
| rs1129406 | 12:51,203,371 | C/T | splice region variant | benign |
| rs4986838 | 12:51,203,376 | T/C | splice region variant | — |
| rs377435384 | 12:51,207,834 | G/C | — | uncertain significance |
| rs763356871 | 12:51,208,078 | T/C | — | uncertain significance |
| rs763703570 | 12:51,208,079 | G/C | — | uncertain significance |
| rs564265317 | 12:51,208,102 | C/T | — | uncertain significance |
| rs532503300 | 12:51,208,120 | T/C | — | uncertain significance |
| rs781338514 | 12:51,208,155 | C/T | — | uncertain significance |
| rs17291650 | 12:51,213,433 | A/G | synonymous variant | — |
| rs1941910387 | 12:51,213,476 | C/G | — | uncertain significance |
| rs1010348375 | 12:51,213,507 | C/T | — | uncertain significance |
| rs11169571 | 12:51,213,765 | T/C | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.