Human Gene ATF6 (ENST00000367942.4_6) from GENCODE V47lift37
  Description: activating transcription factor 6 (from RefSeq NM_007348.4)
Gencode Transcript: ENST00000367942.4_6
Gencode Gene: ENSG00000118217.7_13
Transcript (Including UTRs)
   Position: hg19 chr1:161,736,110-161,933,860 Size: 197,751 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr1:161,736,151-161,928,444 Size: 192,294 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:161,736,110-161,933,860)mRNA (may differ from genome)Protein (670 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATF6A_HUMAN
DESCRIPTION: RecName: Full=Cyclic AMP-dependent transcription factor ATF-6 alpha; Short=cAMP-dependent transcription factor ATF-6 alpha; AltName: Full=Activating transcription factor 6 alpha; Short=ATF6-alpha; Contains: RecName: Full=Processed cyclic AMP-dependent transcription factor ATF-6 alpha;
FUNCTION: Transcription factor that acts during endoplasmic reticulum stress by activating unfolded protein response target genes. 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.
SUBUNIT: Homodimer and heterodimer with ATF6-beta. The dimer interacts with the nuclear transcription factor Y (NF-Y) trimer through direct binding to NF-Y subunit C (NF-YC). Interacts also with the transcription factors GTF2I, YY1 and SRF.
INTERACTION: Q68CJ9:CREB3L3; NbExp=2; IntAct=EBI-852157, EBI-852194;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
SUBCELLULAR LOCATION: Processed cyclic AMP-dependent transcription factor ATF-6 alpha: Nucleus. Note=Under ER stress the cleaved N- terminal cytoplasmic domain translocates into the nucleus.
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The basic domain functions as a nuclear localization signal.
DOMAIN: The basic leucine-zipper domain is sufficient for association with the NF-Y trimer and binding to ERSE.
PTM: During unfolded protein response an approximative 50 kDa fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases.
PTM: N-glycosylated. The glycosylation status may serve as a sensor for ER homeostasis, resulting in ATF6 activation to trigger the unfolded protein response (UPR).
PTM: Phosphorylated in vitro by MAPK14/P38MAPK.
SIMILARITY: Belongs to the bZIP family. ATF subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATF6
Diseases sorted by gene-association score: achromatopsia 7* (1329), achromatopsia* (176), metaphyseal chondrodysplasia, schmid type (6), cystic fibrosis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.85 RPKM in Whole Blood
Total median expression: 324.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.8041-0.312 Picture PostScript Text
3' UTR -1474.305416-0.272 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP

Pfam Domains:
PF00170 - bZIP transcription factor
PF07716 - Basic region leucine zipper

SCOP Domains:
47454 - A DNA-binding domain in eukaryotic transcription factors
57959 - Leucine zipper domain

ModBase Predicted Comparative 3D Structure on P18850
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0035497 cAMP response element binding
GO:0042802 identical protein binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001654 eye development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006457 protein folding
GO:0006986 response to unfolded protein
GO:0007165 signal transduction
GO:0007601 visual perception
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0036500 ATF6-mediated unfolded protein response
GO:0043065 positive regulation of apoptotic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1903893 positive regulation of ATF6-mediated unfolded protein response
GO:1990440 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  AB015856 - Homo sapiens mRNA for ATF6, complete cds.
LF205446 - JP 2014500723-A/12949: Polycomb-Associated Non-Coding RNAs.
AF005887 - Homo sapiens ATF family member ATF6 (ATF6) mRNA, complete cds.
AK290498 - Homo sapiens cDNA FLJ75428 complete cds, highly similar to Homo sapiens activating transcription factor 6 (ATF6), mRNA.
BC014969 - Homo sapiens activating transcription factor 6, mRNA (cDNA clone IMAGE:4908463), complete cds.
BC071997 - Homo sapiens activating transcription factor 6, mRNA (cDNA clone IMAGE:6379669), complete cds.
AB208929 - Homo sapiens mRNA for activating transcription factor 6 variant protein.
KJ902257 - Synthetic construct Homo sapiens clone ccsbBroadEn_11651 ATF6 gene, encodes complete protein.
KR710776 - Synthetic construct Homo sapiens clone CCSBHm_00016933 ATF6 (ATF6) mRNA, encodes complete protein.
KR710777 - Synthetic construct Homo sapiens clone CCSBHm_00016934 ATF6 (ATF6) mRNA, encodes complete protein.
CU677145 - Synthetic construct Homo sapiens gateway clone IMAGE:100017581 5' read ATF6 mRNA.
BC166676 - Synthetic construct Homo sapiens clone IMAGE:100066402, MGC:195539 activating transcription factor 6 (ATF6) mRNA, encodes complete protein.
MA441023 - JP 2018138019-A/12949: Polycomb-Associated Non-Coding RNAs.
JD100702 - Sequence 81726 from Patent EP1572962.
JD141820 - Sequence 122844 from Patent EP1572962.
LF320676 - JP 2014500723-A/128179: Polycomb-Associated Non-Coding RNAs.
LF320672 - JP 2014500723-A/128175: Polycomb-Associated Non-Coding RNAs.
LF320668 - JP 2014500723-A/128171: Polycomb-Associated Non-Coding RNAs.
LF320655 - JP 2014500723-A/128158: Polycomb-Associated Non-Coding RNAs.
LF320650 - JP 2014500723-A/128153: Polycomb-Associated Non-Coding RNAs.
MA556253 - JP 2018138019-A/128179: Polycomb-Associated Non-Coding RNAs.
MA556249 - JP 2018138019-A/128175: Polycomb-Associated Non-Coding RNAs.
MA556245 - JP 2018138019-A/128171: Polycomb-Associated Non-Coding RNAs.
MA556232 - JP 2018138019-A/128158: Polycomb-Associated Non-Coding RNAs.
MA556227 - JP 2018138019-A/128153: Polycomb-Associated Non-Coding RNAs.
BX538263 - Homo sapiens mRNA; cDNA DKFZp686P2194 (from clone DKFZp686P2194).
LF320638 - JP 2014500723-A/128141: Polycomb-Associated Non-Coding RNAs.
JD297222 - Sequence 278246 from Patent EP1572962.
JD533957 - Sequence 514981 from Patent EP1572962.
JD235778 - Sequence 216802 from Patent EP1572962.
JD314207 - Sequence 295231 from Patent EP1572962.
JD300365 - Sequence 281389 from Patent EP1572962.
JD046841 - Sequence 27865 from Patent EP1572962.
JD516476 - Sequence 497500 from Patent EP1572962.
LF320637 - JP 2014500723-A/128140: Polycomb-Associated Non-Coding RNAs.
LF320636 - JP 2014500723-A/128139: Polycomb-Associated Non-Coding RNAs.
JD511618 - Sequence 492642 from Patent EP1572962.
AF088035 - Homo sapiens full length insert cDNA clone ZC26G04.
JD344690 - Sequence 325714 from Patent EP1572962.
JD138239 - Sequence 119263 from Patent EP1572962.
JD175776 - Sequence 156800 from Patent EP1572962.
JD332129 - Sequence 313153 from Patent EP1572962.
JD022952 - Sequence 3976 from Patent EP1572962.
JD020486 - Sequence 1510 from Patent EP1572962.
JD031930 - Sequence 12954 from Patent EP1572962.
AK025316 - Homo sapiens cDNA: FLJ21663 fis, clone COL08885.
LF320635 - JP 2014500723-A/128138: Polycomb-Associated Non-Coding RNAs.
LF320634 - JP 2014500723-A/128137: Polycomb-Associated Non-Coding RNAs.
MA556215 - JP 2018138019-A/128141: Polycomb-Associated Non-Coding RNAs.
MA556214 - JP 2018138019-A/128140: Polycomb-Associated Non-Coding RNAs.
MA556213 - JP 2018138019-A/128139: Polycomb-Associated Non-Coding RNAs.
MA556212 - JP 2018138019-A/128138: Polycomb-Associated Non-Coding RNAs.
MA556211 - JP 2018138019-A/128137: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P18850 (Reactome details) participates in the following event(s):

R-HSA-381135 MBTPS1 (S1P) cleaves ATF6 (ATF6-alpha)
R-HSA-420818 MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)
R-HSA-381158 ATF6:HSPA5 (ATF6-alpha:BiP) dissociates and HSPA5 binds unfolded protein
R-HSA-381033 ATF6 (ATF6-alpha) activates chaperones
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ATF6A_HUMAN, ENST00000367942.1, ENST00000367942.2, ENST00000367942.3, NM_007348, O15139, P18850, Q5VW62, Q6IPB5, Q9UEC9, uc318gif.1, uc318gif.2
UCSC ID: ENST00000367942.4_6
RefSeq Accession: NM_007348.4
Protein: P18850 (aka ATF6A_HUMAN or AT6A_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ATF6:
achm (Achromatopsia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.