Activating Transcription Factor 1

Alternative Names

  • ATF1
  • Camp-Dependent Transcription Factor 1
  • ATF1/EWS Fusion Gene
  • ATF1/FUS Fusion Gene
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OMIM Number

123803

NCBI Gene ID

466

Uniprot ID

P18846

Length

57,704 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Cyclic AMP-dependent transcription factor ATF-1

Molecular Mass

29233 Da

Amino Acid Count

271

Genomic Location

chr12:50,763,458-50,821,161

Gene Map Locus
12q13.12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005171.4:c.329-89A>GUnited Arab EmiratesNC_000012.12:g.50813921A>GNG_027673.1:g.54916A>G; NM_005171.4:c.329-89A>G; NP_005162.1:p.?829112
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