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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 prote... See more...
Aliases for ATF6 Gene
Aliases for ATF6 Gene
External Ids for ATF6 Gene
- HGNC: 791
- NCBI Entrez Gene: 22926
- Ensembl: ENSG00000118217
- OMIM®: 605537
- UniProtKB/Swiss-Prot: P18850
Previous GeneCards Identifiers for ATF6 Gene
- GC01P159370
- GC01P157386
- GC01P158432
- GC01P158923
- GC01P158467
- GC01P160002
- GC01P161736
- GC01P132981
Summaries 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 Pathways of neurodegeneration - multiple diseases and Ceramide Pathway. 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.
UniProtKB/Swiss-Prot Summary for ATF6 Gene
-
[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).
-
[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:11163209, PubMed:11158310, 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).
Additional gene information for ATF6 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATF6 Gene
Genomics for ATF6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATF6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATF6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATF6
- Top Transcription factor binding sites by QIAGEN in the ATF6 gene promoter:
-
- AML1a
- ATF6
- c-Myb
- CREB
- deltaCREB
- E47
- Tal-1
- USF-1
- USF1
Genomic Locations for ATF6 Gene
Latest Assembly
- chr1:161,766,298-161,977,574
- (GRCh38/hg38)
- Size:
- 211,277 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:161,736,110-161,933,860
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 197,751 bases
- Orientation:
- Plus strand
Genomic View for ATF6 Gene
Genes around ATF6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q23.3 by HGNC
- 1q23.3 by Entrez Gene
- 1q23.3 by Ensembl
ATF6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- O15139
- Q5VW62
- Q6IPB5
- Q9UEC9
Protein attributes for ATF6 Gene
- Size:
- 670 amino acids
- Molecular mass:
- 74585 Da
- Quaternary structure:
-
- Interacts with XBP1 isoform 2; the interaction occurs in a ER stress-dependent manner (PubMed:17765680). Interacts with LACC1 (PubMed:31875558).
- [Cyclic AMP-dependent transcription factor ATF-6 alpha]: Interacts with THBS4 (via EGF-like 3; calcium-binding domain) which facilitates its processing, activation and nuclear translocation (PubMed:22682248). Interacts (via lumenal domain) with THBS1 (By similarity).
- [Processed cyclic AMP-dependent transcription factor ATF-6 alpha]: 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.
Protein Expression for ATF6 Gene
Post-translational modifications for ATF6 Gene
- 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.
- N-glycosylated. The glycosylation status may serve as a sensor for ER homeostasis, resulting in ATF6 activation to trigger the unfolded protein response (UPR).
-
Glycosylation at Asn472, Asn584, and Asn643
- NX_P18850 (NX_P18850-1)
-
Ubiquitination at Lys424 and Lys436
- NX_P18850 (NX_P18850-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- ATF6A_HUMAN (1162)
Other Protein References for ATF6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences ATF6 Monoclonal Antibody and ATF6 Antibody
- G Biosciences Immunotag™ ATF6 Antibody
- NSJ Bioreagents ATF6 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ATF6
- Novus Biologicals Antibodies for ATF6
-
Abcam antibodies for ATF6
- Invitrogen Antibodies for ATF6 (AFLGC-ATF6)
- antibodies-online: Show 66 available ATF6 Antibodies ranked by validation data
- Compare Top ATF6 Antibodies
-
Recommended
- 162 WB Antibodies (anti-human)
- 10 FACS Antibodies (anti-human)
- 7 IP Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 71 WB Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 3 FACS Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 45 WB Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATF6
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATF6
- Origene Custom Protein Services for ATF6
- Novus Biologicals proteins for ATF6
-
Abcam proteins for ATF6
No data available for DME Specific Peptides for ATF6 Gene
Domains & Families for ATF6 Gene
Gene Families for ATF6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted membrane proteins
- Transcription factors
Suggested Antigen Peptide Sequences for ATF6 Gene
- GenScript: Design optimal peptide antigens:
-
- Activating transcription factor 6 alpha (ATF6A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P18850UniProtKB/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.
- Family:
-
- Belongs to the bZIP family. ATF subfamily.
Function for ATF6 Gene
Molecular function for ATF6 Gene
- UniProtKB/Swiss-Prot 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).
- UniProtKB/Swiss-Prot 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:11163209, PubMed:11158310, 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).
Phenotypes From GWAS Catalog 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:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 24269637 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 14973138 |
Phenotypes for ATF6 Gene
- MGI mutant phenotypes for ATF6:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ATF6:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 25%
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- no effect
- Decreased viability after Maraba virus infection
- Increased hepcidin::fluc mRNA expression
- Mitotic spindle defects
- Decreased circadian period length
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATF6 - Starting at $85 >
- * ATF6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATF6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATF6
miRNA for ATF6 Gene
- miRTarBase miRNAs that target ATF6
-
- hsa-miR-503-5p (MIRT000650)
- hsa-miR-424-5p (MIRT000658)
- hsa-miR-335-5p (MIRT019158)
- hsa-miR-191-5p (MIRT045796)
- hsa-miR-199a-5p (MIRT053103)
- mmu-miR-216a-5p (MIRT584749)
- mmu-miR-290a-5p (MIRT584750)
- mmu-miR-292a-5p (MIRT584751)
- hsa-miR-552-5p (MIRT615631)
- hsa-miR-6780a-5p (MIRT615632)
- hsa-miR-6779-5p (MIRT615633)
- hsa-miR-3689c (MIRT615634)
- hsa-miR-3689b-3p (MIRT615635)
- hsa-miR-3689a-3p (MIRT615636)
- hsa-miR-30b-3p (MIRT615637)
- hsa-miR-1273h-5p (MIRT615638)
- hsa-miR-6799-5p (MIRT615639)
- hsa-miR-6883-5p (MIRT615640)
- hsa-miR-6785-5p (MIRT615641)
- hsa-miR-4728-5p (MIRT615642)
- hsa-miR-149-3p (MIRT615643)
- hsa-miR-7106-5p (MIRT615644)
- hsa-miR-6871-5p (MIRT615645)
- hsa-miR-208b-5p (MIRT615646)
- hsa-miR-208a-5p (MIRT615647)
- hsa-miR-7153-3p (MIRT615648)
Transcription Factor Targets for ATF6 Gene
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATF6
- Browse OriGene Inhibitory RNA Products For ATF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATF6
Clone products for research
- Applied Biological Materials (abm): Clones for ATF6 - Starting at $45 >
- * ATF6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATF6
- Addgene plasmids for ATF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATF6
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. Golgi apparatus membrane. Single-pass type II membrane protein. Note=Translocates from the endoplasmic reticulum to the Golgi, where it is processed. {ECO:0000269 PubMed:12782636}.
- [Processed cyclic AMP-dependent transcription factor ATF-6 alpha]: Nucleus. 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| mitochondrion | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endosome | 2 |
| lysosome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA,IDA | 11163209 |
| GO:0005635 | nuclear envelope | TAS | 10866666 |
| GO:0005654 | nucleoplasm | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATF6 Gene
Pathways & Interactions for ATF6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pathways of neurodegeneration - multiple diseases | ||
| 2 | Unfolded Protein Response (UPR) | ||
| 3 | IL1 Signaling Pathway | ||
| 4 | TNFR1 Pathway |
TNF Signaling
.55
|
.34
|
| 5 | ERK Signaling |
MAPK Signaling
.58
|
ILK Signaling
.49
|
Pathways by source for ATF6 Gene
3 Sino Biological pathways for ATF6 Gene
4 BioSystems pathways for ATF6 Gene
6 Reactome pathways for ATF6 Gene
10 Qiagen pathways for ATF6 Gene
- Ceramide Pathway
- Epithelial Tight Junctions
- ILK Signaling
- iNOS Signaling
- ITK and TCR Signaling
1 Cell Signaling Technology pathway for ATF6 Gene
1 GeneTex pathway for ATF6 Gene
Interacting Proteins for ATF6 Gene
Selected Interacting proteins:
P18850-ATF6A_HUMAN
ENSP00000356919
for ATF6 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ATF6
SIGNOR curated interactions for ATF6 Gene
| 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,IBA | 21873635 |
| GO:0006457 | protein folding | TAS | 10564271 |
| GO:0006986 | response to unfolded protein | IEA | -- |
Drugs & Compounds for ATF6 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ATF6 Gene
mRNA/cDNA for ATF6 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367942 7470 nts (view in UCSC)
- ENST00000476437 778 nts (view in UCSC)
- ENST00000679833 4367 nts
- ENST00000679853 5509 nts
- ENST00000679886 2426 nts
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATF6 - Starting at $85 >
- * ATF6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATF6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATF6
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATF6
- Browse OriGene Inhibitory RNA Products For ATF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATF6
Clone products for research
- Applied Biological Materials (abm): Clones for ATF6 - Starting at $45 >
- * ATF6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATF6
- Addgene plasmids for ATF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATF6
Relevant External Links for ATF6 Gene
- GeneLoc Exon Structure for
- ATF6
Expression 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).
This gene is overexpressed in Serum (66.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATF6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATF6
SOURCE GeneReport for Unigene cluster for ATF6 Gene:
Hs.492740mRNA Expression by UniProt/SwissProt for ATF6 Gene:
P18850-ATF6A_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for ATF6 Gene
- Pancreas(4.6)
- Nervous system(4.3)
- Kidney(3.3)
- Liver(3.3)
- Lung(3.2)
- Heart(3)
- Muscle(2.9)
- Spleen(2.7)
- Intestine(2.6)
- Skin(2.5)
- Stomach(2.3)
- Blood(2.2)
- Adrenal gland(2.2)
- Lymph node(2.1)
- Bone marrow(2.1)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATF6 Gene
Germ Layers:
- ectoderm
Systems:
- nervous
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- head
General:
- peripheral nervous system
Primer products for research
-
OriGene qPCR primer pairs for ATF6
Gene Expression Assays for research
Orthologs for ATF6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATF6 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATF6 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATF6 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atf6 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atf6 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ATF6 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATF6 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ATF6 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATF6 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atf6 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atf6 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Atf6 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for ATF6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATF6: view image
- Alliance of Genome Resources:
- Additional Orthologs for ATF6
Paralogs for ATF6 Gene
Variants for ATF6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATF6 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000554 | Uncertain Significance: not provided | 161,802,111(+) |
C/T NM_007348.4(ATF6):c.748C>T (p.Pro250Ser) |
MISSENSE | |
| 1004228 | Uncertain Significance: not provided | 161,863,311(+) |
G/A NM_007348.4(ATF6):c.1718G>A (p.Arg573Lys) |
MISSENSE | |
| 1004992 | Uncertain Significance: not provided | 161,853,231(+) |
C/T NM_007348.4(ATF6):c.1441C>T (p.His481Tyr) |
MISSENSE | |
| 1006800 | Uncertain Significance: not provided | 161,766,437(+) |
A/G NM_007348.4(ATF6):c.77A>G (p.Asp26Gly) |
MISSENSE | |
| 1007580 | Uncertain Significance: not provided | 161,784,050(+) |
C/T NM_007348.4(ATF6):c.308C>T (p.Ser103Leu) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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)
Additional Variant Information for ATF6 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATF6 Gene
Disorders for ATF6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| achromatopsia 7 |
|
|
| achromatopsia |
|
|
| cone-rod dystrophy 2 |
|
|
| wolfram syndrome 1 |
|
|
| wolfram syndrome |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for ATF6
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ATF6 Gene
Publications for ATF6 Gene
- 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 (The Journal of biological chemistry 1998) 2 3 4 22
- Interaction of ATF6 and serum response factor. (PMID: 9271374) Zhu C … Prywes R (Molecular and cellular biology 1997) 2 3 4 22
- Mutation of ATF6 causes autosomal recessive achromatopsia. (PMID: 26063662) Ansar M … Leal SM (Human genetics 2015) 3 4 72
- Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. (PMID: 26029869) Kohl S … Lin JH (Nature genetics 2015) 3 4 72
- The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels. (PMID: 19667116) Meex SJ … Glembotski CC (Arteriosclerosis, thrombosis, and vascular biology 2009) 3 22 40
ExternalLinks
Products for ATF6 Gene
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- antibodies-online: Show 66 available ATF6 Antibodies ranked by validation data
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- 162 WB Antibodies (anti-human)
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- 1 ICC Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 71 WB Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
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- 1 IHC (p) Antibody (anti-mouse)
- 45 WB Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
- antibodies-online: Show 31 available ATF6 Elisa Kits ranked by validation data
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Sources for ATF6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) S