From NCBI Gene: Achromatopsia 7From UniProt: Achromatopsia 7 (ACHM7): A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. [MIM:616517]

     From NCBI Gene: This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011] From UniProt: Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina.

The following transcription factors affect gene expression:

• NF-kappaB
• CREB
• deltaCREB
• NF-kappaB1
• ATF6

Tissue specificity:

Ubiquitous.

Molecular Function:

• Transcription Regulatory Region Sequence-Specific Dna Binding
• Rna Polymerase Ii Regulatory Region Sequence-Specific Dna Binding
• Transcription Factor Activity, Sequence-Specific Dna Binding
• Transcription Coactivator Activity
• Camp Response Element Binding
• Identical Protein Binding
• Protein Heterodimerization Activity

Biological Processes:

• Eye Development
• Transcription, Dna-Templated
• Regulation Of Transcription From Rna Polymerase Ii Promoter
• Protein Folding
• Response To Stress
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter Involved In Unfolded Protein Response
• Signal Transduction
• Visual Perception
• Endoplasmic Reticulum Unfolded Protein Response
• Atf6-Mediated Unfolded Protein Response
• Positive Regulation Of Apoptotic Process
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter In Response To Endoplasmic Reticulum Stress

Drug Bank:

• Pseudoephedrine