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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]
ATF6 (Activating Transcription Factor 6) is a Protein Coding gene. Diseases associated with ATF6 include Achromatopsia 7 and Achromatopsia. Among its related pathways are Photodynamic therapy-induced unfolded protein response and PERK regulates gene expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ATF6B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 16469704 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 11779464 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 24269637 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 14973138 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | TAS,IDA | 11163209 |
GO:0005635 | nuclear envelope | TAS | 10866666 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Unfolded Protein Response (UPR) | ||
2 | Parkinson disease | ||
3 | IL1 Signaling Pathway | ||
4 | TNFR1 Pathway |
TNF Signaling
.55
|
.34
|
5 | ERK Signaling |
MAPK Signaling
.58
|
ILK Signaling
.49
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001654 | eye development | IMP | 26029869 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 10564271 |
GO:0006457 | protein folding | TAS | 10564271 |
GO:0006986 | response to unfolded protein | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATF6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATF6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATF6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atf6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atf6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ATF6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATF6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATF6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATF6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atf6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atf6 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Atf6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713560 | Likely Benign: not provided | 161,860,275(+) | C/T | SYNONYMOUS_VARIANT | |
717816 | Benign: not provided | 161,802,224(+) | C/T | SYNONYMOUS_VARIANT | |
718142 | Benign: not provided | 161,802,196(+) | C/T | MISSENSE_VARIANT | |
726044 | Benign: not provided | 161,851,818(+) | C/T | SYNONYMOUS_VARIANT | |
727701 | Likely Benign: not provided | 161,783,981(+) | G/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3304870 | CNV | mobile element insertion | 20981092 |
esv3336606 | CNV | duplication | 20981092 |
esv33393 | CNV | gain+loss | 17666407 |
esv3450329 | CNV | insertion | 20981092 |
esv3578231 | CNV | loss | 25503493 |
esv3587736 | CNV | gain | 21293372 |
esv3587737 | CNV | loss | 21293372 |
nsv1007108 | CNV | gain | 25217958 |
nsv1014340 | CNV | loss | 25217958 |
nsv1137819 | CNV | deletion | 24896259 |
nsv3276 | CNV | insertion | 18451855 |
nsv428257 | CNV | loss | 18775914 |
nsv464184 | CNV | gain | 19166990 |
nsv464206 | CNV | gain | 19166990 |
nsv470744 | CNV | gain | 18288195 |
nsv548075 | CNV | gain | 21841781 |
nsv548077 | CNV | gain | 21841781 |
nsv831747 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
achromatopsia 7 |
|
|
achromatopsia |
|
|
cone-rod dystrophy 2 |
|
|
wolfram syndrome 1 |
|
|
wolfram syndrome |
|
|