ATF6
entrez
22926
canonical
uniprot
P18850
canonical
ensembl
ENSG00000118217
resolver
ensp
ENSP00000356919
resolver
ensp
ENSP00000504865
resolver
ensp
ENSP00000505025
resolver
ensp
ENSP00000505998
resolver
ensp
ENSP00000506149
resolver
ensp
ENSP00000621894
resolver
ensp
ENSP00000786186
resolver
enst
ENST00000367942
resolver
enst
ENST00000679853
resolver
enst
ENST00000680688
resolver
enst
ENST00000681738
resolver
enst
ENST00000681801
resolver
genesymbol
ATF6
resolver
hgnc
HGNC:791
resolver
uniprot
A0A7P0TAF2
resolver
uniprot
A0A7P0Z421
resolver
uniprot
A8K383
resolver
uniprot
O15139
resolver
uniprot
Q5VW62
resolver
uniprot
Q6IPB5
resolver
uniprot
Q9UEC9
resolver
uniprot_entry
A0A7P0TAF2_HUMAN
resolver
uniprot_entry
A0A7P0Z421_HUMAN
resolver
uniprot_entry
A8K383_HUMAN
resolver
uniprot_entry
ATF6A_HUMAN
resolver
uniprot_sec
O15139
resolver
uniprot_sec
Q5VW62
resolver
uniprot_sec
Q6IPB5
resolver
uniprot_sec
Q9UEC9
resolver
amino_acid_sequence
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAININENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ
uniprot
proteins
disease_involvement
DISEASE: Achromatopsia 7 (ACHM7) [MIM:616517]: 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. {ECO:0000269|PubMed:26029869, ECO:0000269|PubMed:26063662}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Cyclic AMP-dependent transcription factor ATF-6 alpha]: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubMed:11158310, PubMed:11779464). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:10564271, PubMed:11158310, PubMed:11779464). {ECO:0000269|PubMed:10564271, ECO:0000269|PubMed:11158310, ECO:0000269|PubMed:11779464}.; FUNCTION: [Processed cyclic AMP-dependent transcription factor ATF-6 alpha]: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR (PubMed:10564271, PubMed:11158310, PubMed:11163209, PubMed:11779464). 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') (PubMed:10564271, PubMed:11158310, PubMed:11779464). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor (PubMed:10564271, PubMed:11158310, PubMed:11779464). May play a role in foveal development and cone function in the retina (PubMed:26029869). {ECO:0000269|PubMed:10564271, ECO:0000269|PubMed:11158310, ECO:0000269|PubMed:11163209, ECO:0000269|PubMed:11779464, ECO:0000269|PubMed:26029869}.
uniprot
proteins
mass_dalton
74585
uniprot
proteins
mutagenesis
MUTAGEN 152; /note="K->R: Almost complete loss of RNF186-mediated ubiquitination."; /evidence="ECO:0000269|PubMed:34623328"; MUTAGEN 391; /note="N->F: Loss of proteolytic cleavage; when associated with L-394."; /evidence="ECO:0000269|PubMed:11163209"; MUTAGEN 394; /note="P->L: Loss of proteolytic cleavage; when associated with F-391."; /evidence="ECO:0000269|PubMed:11163209"; MUTAGEN 415..416; /note="RR->AA: Reduces proteolytic cleavage."; /evidence="ECO:0000269|PubMed:11163209"; MUTAGEN 419; /note="L->V: Reduces proteolytic cleavage."; /evidence="ECO:0000269|PubMed:11163209"; MUTAGEN 474; /note="T->I: Loss of glycosylation at Asn-472 and increase of Golgi translocation rate."; /evidence="ECO:0000269|PubMed:14699159"; MUTAGEN 586; /note="T->I: Loss of glycosylation at Asn-584 and increase of Golgi translocation rate. Higher increase in Golgi translocation rate; when associated with Ile-645."; /evidence="ECO:0000269|PubMed:14699159"; MUTAGEN 645; /note="T->I: Loss of glycosylation at Asn-643 and increase of Golgi translocation rate. Higher increase in Golgi translocation rate; when associated with Ile-586."; /evidence="ECO:0000269|PubMed:14699159
uniprot
proteins
post_translational_modification
PTM: During unfolded protein response, a fragment of approximately 50 kDa containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 (MBTPS1, S1P) and site-2 (MBTPS2, S2P) proteases. {ECO:0000269|PubMed:11163209, ECO:0000269|PubMed:12782636}.; PTM: N-glycosylated; in its luminal domain (PubMed:36739529). The glycosylation status may serve as a sensor for ER homeostasis, resulting in ATF6 activation to trigger the unfolded protein response (UPR). {ECO:0000269|PubMed:14699159, ECO:0000269|PubMed:36739529}.; PTM: Ubiquitinated by RNF186 at Lys-152, which is required for pattern recognition receptor-induced unfolded protein response-associated outcomes. {ECO:0000269|PubMed:34623328}.
uniprot
proteins
protein_family
ATF subfamily
uniprot
proteins
protein_family
BZIP family
uniprot
proteins
pubmed
10564271
uniprot
proteins
pubmed
11158310
uniprot
proteins
pubmed
11163209
uniprot
proteins
pubmed
11483355
uniprot
proteins
pubmed
11779464
uniprot
proteins
pubmed
12782636
uniprot
proteins
pubmed
14699159
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17765680
uniprot
proteins
pubmed
22682248
uniprot
proteins
pubmed
2516827
uniprot
proteins
pubmed
26029869
uniprot
proteins
pubmed
26063662
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31875558
uniprot
proteins
pubmed
34623328
uniprot
proteins
pubmed
36739529
uniprot
proteins
pubmed
9271374
uniprot
proteins
pubmed
9837962
uniprot
proteins
sequence_length
670
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10564271, ECO:0000269|PubMed:12782636}; Single-pass type II membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:12782636}; Single-pass type II membrane protein {ECO:0000255}. Note=Translocates from the endoplasmic reticulum to the Golgi, where it is processed. {ECO:0000269|PubMed:12782636}.; SUBCELLULAR LOCATION: [Processed cyclic AMP-dependent transcription factor ATF-6 alpha]: Nucleus {ECO:0000269|PubMed:10564271, ECO:0000269|PubMed:12782636}. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus (PubMed:10564271, PubMed:12782636). THBS4 promotes its nuclear shuttling (By similarity). {ECO:0000250|UniProtKB:F6VAN0, ECO:0000269|PubMed:10564271, ECO:0000269|PubMed:12782636}.
uniprot
proteins
transmembrane_region
TRANSMEM 378..398; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins