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ATF6 activating transcription factor 6 [ Homo sapiens (human) ]

Gene ID: 22926, updated on 27-Nov-2022

Summary

Official Symbol
ATF6provided by HGNC
Official Full Name
activating transcription factor 6provided by HGNC
Primary source
HGNC:HGNC:791
See related
Ensembl:ENSG00000118217 MIM:605537; AllianceGenome:HGNC:791
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACHM7; ATF6A
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 11.4), placenta (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

See ATF6 in Genome Data Viewer
Location:
1q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161766320..161964070)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161110648..161308347)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161736110..161933860)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904444 Neighboring gene dual specificity phosphatase 12 Neighboring gene ATF6 divergent transcript Neighboring gene proteasome activator subunit 3 pseudogene Neighboring gene olfactomedin like 2B Neighboring gene Sharpr-MPRA regulatory region 11962

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Achromatopsia 7
MedGen: C4225297 OMIM: 616517 GeneReviews: Achromatopsia
Compare labs

EBI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
EBI GWAS Catalog
Genomewide association study for onset age in Parkinson disease.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat induces endoplasmic reticulum (ER) stress response proteins CASP12 (Caspase 12), DDIT3 (CHOP), ROS1, ERN-1 (p-IRE1), EIF2AK3 (p-PERK), and ATF6 in human brain microvascular endothelial cells (HBMECs) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21663, DKFZp686P2194

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cAMP response element binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in ATF6-mediated unfolded protein response IC
Inferred by Curator
more info
PubMed 
involved_in ATF6-mediated unfolded protein response TAS
Traceable Author Statement
more info
PubMed 
involved_in ERAD pathway IC
Inferred by Curator
more info
PubMed 
involved_in endoplasmic reticulum unfolded protein response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
 
involved_in eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of ATF6-mediated unfolded protein response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein folding TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IC
Inferred by Curator
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
part_of RNA polymerase II transcription regulator complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear envelope TAS
Traceable Author Statement
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cyclic AMP-dependent transcription factor ATF-6 alpha
Names
cAMP-dependent transcription factor ATF-6 alpha

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029773.1 RefSeqGene

    Range
    5077..202827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410890.1NP_001397819.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL359541, AL391825, AL450995
    Consensus CDS
    CCDS91093.1
    UniProtKB/TrEMBL
    A0A7P0TAF2
  2. NM_007348.4NP_031374.2  cyclic AMP-dependent transcription factor ATF-6 alpha isoform 1

    See identical proteins and their annotated locations for NP_031374.2

    Status: REVIEWED

    Source sequence(s)
    AB015856, AK290498, AL391825, BC014969, BM683233, BP380917
    Consensus CDS
    CCDS1235.1
    UniProtKB/Swiss-Prot
    P18850, Q9UEC9
    UniProtKB/TrEMBL
    A8K383
    Related
    ENSP00000356919.3, ENST00000367942.4
    Conserved Domains (1) summary
    cd14700
    Location:309360
    bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161766320..161964070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509308.1XP_011507610.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X1

    UniProtKB/TrEMBL
    A0A7P0Z421
    Related
    ENSP00000504865.1, ENST00000680688.1
    Conserved Domains (1) summary
    cd14700
    Location:309360
    bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain
  2. XM_011509309.1XP_011507611.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X2

    Conserved Domains (1) summary
    cd14700
    Location:309360
    bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain
  3. XM_006711224.1XP_006711287.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X3

    Related
    ENSP00000506149.1, ENST00000679853.1
    Conserved Domains (1) summary
    cd14700
    Location:309360
    bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain
  4. XM_047449542.1XP_047305498.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X5

  5. XM_011509310.3XP_011507612.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X4

    Related
    ENSP00000505583.1, ENST00000680462.1
    Conserved Domains (1) summary
    cd14700
    Location:309360
    bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    161110648..161308347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)