Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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 Transport to the Golgi and subsequent modification and IL-2 Pathway. 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

Promoters for ATF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATF6 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ATF6 Gene at MOPED

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

InterPro:
Blocks:
ProtoNet:

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:0005515 protein binding IEA,IPI 16469704
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

In Situ Assay Products

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:0030176 integral component of endoplasmic reticulum membrane NAS 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:0006457 protein folding TAS 10564271
GO:0006990 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response TAS 9837962
GO:0007165 signal transduction TAS 9271374
GO:0030968 endoplasmic reticulum unfolded protein response TAS 19816510
GO:0036500 ATF6-mediated unfolded protein response TAS 22013210
genes like me logo Genes that share ontologies with ATF6: view

Drugs & Compounds for ATF6 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pseudoephedrine Approved Pharma Target 447

(5) 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

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, MOPED, and MaxQB for ATF6 Gene



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

Protein tissue co-expression partners for ATF6 Gene

Primer Products

In Situ Assay 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 35
  • 99.4 (n)
  • 99.4 (a)
ATF6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATF6 36
  • 91 (a)
OneToOne
ATF6 35
  • 91.07 (n)
  • 92.85 (a)
dog
(Canis familiaris)
Mammalia ATF6 35
  • 89.46 (n)
  • 91.34 (a)
ATF6 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atf6 16
Atf6 35
  • 84.91 (n)
  • 86.13 (a)
Atf6 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATF6 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATF6 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atf6 35
  • 84.81 (n)
  • 87.5 (a)
chicken
(Gallus gallus)
Aves ATF6 35
  • 68.08 (n)
  • 64.58 (a)
ATF6 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATF6 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atf6 35
  • 62.06 (n)
  • 57.39 (a)
zebrafish
(Danio rerio)
Actinopterygii atf6 36
  • 43 (a)
OneToOne
atf6 35
  • 54.69 (n)
  • 47.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Atf6 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for ATF6:
  • 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
rs1058405 -, - 161,781,951(+) ATTTG(A/G/T)TGCCT reference, missense
rs2070150 - 161,791,486(+) CTTCA(C/G)CGGAG reference, missense
rs1135983 - 161,791,522(+) CTGGT(C/T)CTAGG reference, missense
VAR_075681 Achromatopsia 7 (ACHM7)
VAR_075682 Achromatopsia 7 (ACHM7)

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

Variant ID Type Subtype PubMed ID
nsv428257 CNV Loss 18775914
esv33393 CNV Gain+Loss 17666407
nsv464184 CNV Gain 19166990
nsv464206 CNV Gain 19166990
nsv470744 CNV Gain 18288195
nsv3276 CNV Insertion 18451855
esv269148 CNV Insertion 20981092
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

HapMap Linkage Disequilibrium report
ATF6
Human Gene Mutation Database (HGMD)
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
  • achm
wolfram syndrome
  • diabetes mellitus and insipidus with optic atrophy and deafness
metaphyseal chondrodysplasia, schmid type
  • smcd
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. Interaction of ATF6 and serum response factor. (PMID: 9271374) Zhu C. … Prywes R. (Mol. Cell. Biol. 1997) 2 3 4 23 67
  2. Identification of the G13 (cAMP-response-element-binding protein- related protein) gene product related to activating transcription factor 6 as a transcriptional activator of the mammalian unfolded protein response. (PMID: 11256944) Haze K. … Mori K. (Biochem. J. 2001) 2 3 23
  3. 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 23
  4. N-acetyl cysteine and penicillamine induce apoptosis via the ER stress response-signaling pathway. (PMID: 19722195) Guan D. … Shen Z. (Mol. Carcinog. 2010) 3 23
  5. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. (PMID: 20160352) Fonseca S.G. … Urano F. (J. Clin. Invest. 2010) 3 23

Products for ATF6 Gene

Sources for ATF6 Gene

Back to Top

Content