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Aliases for ATF6 Gene

Aliases for ATF6 Gene

  • Activating Transcription Factor 6 2 3 5
  • CAMP-Dependent Transcription Factor ATF-6 Alpha 3 4
  • Activating Transcription Factor 6 Alpha 2 4
  • Cyclic AMP-Dependent Transcription Factor ATF-6 Alpha 3
  • ATF6-Alpha 4
  • ACHM7 3
  • ATF6A 3

External Ids for ATF6 Gene

Previous GeneCards Identifiers for ATF6 Gene

  • GC01P159370
  • GC01P157386
  • GC01P158432
  • GC01P158923
  • GC01P158467
  • GC01P160002
  • GC01P161736
  • GC01P132981

Summaries for ATF6 Gene

Entrez Gene Summary for ATF6 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]

GeneCards Summary for ATF6 Gene

ATF6 (Activating Transcription Factor 6) is a Protein Coding gene. Diseases associated with ATF6 include Achromatopsia 7 and Achromatopsia. Among its related pathways are Signaling mediated by p38-alpha and p38-beta and SREBP signalling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is ATF6B.

UniProtKB/Swiss-Prot for ATF6 Gene

  • 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]-3half 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.

Gene Wiki entry for ATF6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATF6 Gene

Genomics for ATF6 Gene

Regulatory Elements for ATF6 Gene

Enhancers for ATF6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F161130 0.4 ENCODE 30.9 -633.9 -633864 3.9 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 DUSP12 ENSG00000228606 ATF6 ENSG00000238934 ENSG00000224985 ENSG00000227818 RPSAP18 B4GALT3 LOC148430 DEDD
GH01F161399 1.2 Ensembl ENCODE 30.1 -366.7 -366717 3.3 CREB3L1 MLX DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 SSRP1 SDHC ATF6 ENSG00000238934 ENSG00000224985 ENSG00000227818 MPZ FCRLA ENSG00000283696 PIR55576
GH01F161764 0.2 ENCODE 28.9 -0.2 -167 2.7 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ATF6 DUSP12 LOC148430 UAP1 TSTD1 FCRLB SDHC LOC102724329 GC01M161748
GH01F161127 0.4 Ensembl 22.8 -638.5 -638544 1.0 HDGF ARNT SIN3A FEZF1 YBX1 ZNF2 YY1 ZNF302 ZNF416 ZNF548 DUSP12 ENSG00000228606 ATF6 ENSG00000238934 ENSG00000224985 ENSG00000227818 RPSAP18 LOC148430 B4GALT3 PIR61783
GH01F161096 0.4 ENCODE 22.8 -668.6 -668566 2.9 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 YBX1 ZNF2 YY1 DUSP12 ENSG00000228606 RPSAP18 ATF6 ENSG00000238934 ENSG00000224985 ENSG00000227818 LOC148430 KLHDC9 FCER1G
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATF6 on UCSC Golden Path with GeneCards custom track

Promoters for ATF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000546503 -143 3000 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ATF6 Gene

Chromosome:
1
Start:
161,766,244 bp from pter
End:
161,964,070 bp from pter
Size:
197,827 bases
Orientation:
Plus strand

Genomic View for ATF6 Gene

Genes around ATF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATF6 Gene

Proteins for ATF6 Gene

  • Protein details for ATF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18850-ATF6A_HUMAN
    Recommended name:
    Cyclic AMP-dependent transcription factor ATF-6 alpha
    Protein Accession:
    P18850
    Secondary Accessions:
    • O15139
    • Q5VW62
    • Q6IPB5
    • Q9UEC9

    Protein attributes for ATF6 Gene

    Size:
    670 amino acids
    Molecular mass:
    74585 Da
    Quaternary structure:
    • 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. Interacts (via lumenal domain) with THBS1 (By similarity). Interacts with THBS4 (via EGF-like 3; calcium-binding domain) which facilitates its processing, activation and nuclear translocation (PubMed:22682248). Interacts with XBP1 isoform 2; the interaction occurs in a ER stress-dependent manner (PubMed:17765680).

neXtProt entry for ATF6 Gene

Post-translational modifications for ATF6 Gene

  • 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.
  • N-glycosylated. The glycosylation status may serve as a sensor for ER homeostasis, resulting in ATF6 activation to trigger the unfolded protein response (UPR).
  • Phosphorylated in vitro by MAPK14/P38MAPK.
  • Ubiquitination at Lys 424 and Lys 436
  • Glycosylation at Asn 472, Asn 584, and Asn 643
  • Modification sites at PhosphoSitePlus

Other Protein References for ATF6 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATF6 (ATF6A)

No data available for DME Specific Peptides for ATF6 Gene

Domains & Families for ATF6 Gene

Gene Families for ATF6 Gene

Protein Domains for ATF6 Gene

Suggested Antigen Peptide Sequences for ATF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P18850

UniProtKB/Swiss-Prot:

ATF6A_HUMAN :
  • The basic domain functions as a nuclear localization signal.
  • Belongs to the bZIP family. ATF subfamily.
Domain:
  • The basic domain functions as a nuclear localization signal.
  • The basic leucine-zipper domain is sufficient for association with the NF-Y trimer and binding to ERSE.
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family. ATF subfamily.
genes like me logo Genes that share domains with ATF6: view

Function for ATF6 Gene

Molecular function for ATF6 Gene

UniProtKB/Swiss-Prot Function:
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]-3half 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.

Gene Ontology (GO) - Molecular Function for ATF6 Gene

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:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,IDA 11163209
GO:0003713 transcription coactivator activity TAS 10866666
genes like me logo Genes that share ontologies with ATF6: view
genes like me logo Genes that share phenotypes with ATF6: view

Human Phenotype Ontology for ATF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATF6 Gene

MGI Knock Outs for ATF6:

Animal Model Products

Transcription Factor Targets for ATF6 Gene

Selected GeneGlobe predicted Target genes for ATF6

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATF6

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for ATF6 Gene

Localization for ATF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATF6 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Processed cyclic AMP-dependent transcription factor ATF-6 alpha: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus. THBS4 promotes its nuclear shuttling.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATF6 Gene COMPARTMENTS Subcellular localization image for ATF6 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
cytosol 2
mitochondrion 2
extracellular 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ATF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus IEA,IDA 11163209
GO:0005635 nuclear envelope TAS 10866666
GO:0005654 nucleoplasm TAS --
GO:0005783 endoplasmic reticulum IEA,IDA 11256944
genes like me logo Genes that share ontologies with ATF6: view

Pathways & Interactions for ATF6 Gene

genes like me logo Genes that share pathways with ATF6: view

SIGNOR curated interactions for ATF6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ATF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 26029869
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 10564271
GO:0006457 protein folding TAS 10564271
genes like me logo Genes that share ontologies with ATF6: view

Drugs & Compounds for ATF6 Gene

(6) Drugs for ATF6 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pseudoephedrine Approved Pharma Target 606

(3) Additional Compounds for ATF6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATF6: view

Transcripts for ATF6 Gene

Unigene Clusters for ATF6 Gene

Activating transcription factor 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATF6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATF6 Gene

No ASD Table

Relevant External Links for ATF6 Gene

GeneLoc Exon Structure for
ATF6
ECgene alternative splicing isoforms for
ATF6

Expression for ATF6 Gene

mRNA expression in normal human tissues for ATF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATF6 Gene

This gene is overexpressed in Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for ATF6 Gene

This gene is overexpressed in Serum (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATF6 Gene



Protein tissue co-expression partners for ATF6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATF6 Gene:

ATF6

SOURCE GeneReport for Unigene cluster for ATF6 Gene:

Hs.492740

mRNA Expression by UniProt/SwissProt for ATF6 Gene:

P18850-ATF6A_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATF6: view

Primer Products

Orthologs for ATF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATF6 34 35
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia ATF6 34 35
  • 91.07 (n)
dog
(Canis familiaris)
Mammalia ATF6 34 35
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Atf6 34 16 35
  • 84.91 (n)
rat
(Rattus norvegicus)
Mammalia Atf6 34
  • 84.81 (n)
oppossum
(Monodelphis domestica)
Mammalia ATF6 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATF6 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATF6 34 35
  • 68.08 (n)
lizard
(Anolis carolinensis)
Reptilia ATF6 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atf6 34
  • 62.06 (n)
zebrafish
(Danio rerio)
Actinopterygii atf6 34 35
  • 54.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atf6 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for ATF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATF6 Gene

ENSEMBL:
Gene Tree for ATF6 (if available)
TreeFam:
Gene Tree for ATF6 (if available)

Paralogs for ATF6 Gene

Paralogs for ATF6 Gene

(1) SIMAP similar genes for ATF6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ATF6: view

Variants for ATF6 Gene

Sequence variations from dbSNP and Humsavar for ATF6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs761357250 Achromatopsia 7 (ACHM7) [MIM:616517], Pathogenic 161,819,693(+) AGTCT(C/T)GCAAG reference, missense
rs796065053 Achromatopsia 7 (ACHM7) [MIM:616517], Pathogenic 161,863,292(+) CATTT(A/T)ATGTT reference, missense
rs761129859 Pathogenic 161,821,166(+) GGTAA(A/G)TGAAT intron-variant
rs797045170 Pathogenic 161,766,447(+) GGTGA(G/T)TGGGA intron-variant, upstream-variant-2KB
rs797045171 Pathogenic 161,784,095(+) TGTTC(-/C)TGTGA reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ATF6 Gene

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

Variation tolerance for ATF6 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.62; 93.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATF6 Gene

Human Gene Mutation Database (HGMD)
ATF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATF6 Gene

Disorders for ATF6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATF6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
achromatopsia 7
  • achm7
achromatopsia
  • achromatopsia 2
metaphyseal chondrodysplasia, schmid type
  • corneal dystrophy, subepithelial mucinous
wolfram syndrome
  • wolfram syndrome 1
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search ATF6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATF6A_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for ATF6

Genetic Association Database (GAD)
ATF6
Human Genome Epidemiology (HuGE) Navigator
ATF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATF6
genes like me logo Genes that share disorders with ATF6: view

No data available for Genatlas for ATF6 Gene

Publications for ATF6 Gene

  1. Identification of the cis-acting endoplasmic reticulum stress response element responsible for transcriptional induction of mammalian glucose-regulated proteins; involvement of basic-leucine zipper transcription factors. (PMID: 9837962) Yoshida H. … Mori K. (J. Biol. Chem. 1998) 2 3 4 22 64
  2. Interaction of ATF6 and serum response factor. (PMID: 9271374) Zhu C. … Prywes R. (Mol. Cell. Biol. 1997) 2 3 4 22 64
  3. The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels. (PMID: 19667116) Meex S.J. … Glembotski C.C. (Arterioscler. Thromb. Vasc. Biol. 2009) 3 22 46 64
  4. Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits. (PMID: 17327457) Chu W.S. … Elbein S.C. (Diabetes 2007) 3 22 46 64
  5. Activating transcription factor 6 polymorphisms and haplotypes are associated with impaired glucose homeostasis and type 2 diabetes in Dutch Caucasians. (PMID: 17440018) Meex S.J. … de Bruin T.W. (J. Clin. Endocrinol. Metab. 2007) 3 22 46 64

Products for ATF6 Gene

Sources for ATF6 Gene

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