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

Gene ID: 22926, updated on 16-Feb-2020

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
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

Genomic context

See ATF6 in Genome Data Viewer
Location:
1q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161766320..161964070)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161736034..161933860)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724329 Neighboring gene dual specificity phosphatase 12 Neighboring gene proteasome activator subunit 3 pseudogene Neighboring gene olfactomedin like 2B Neighboring gene uncharacterized LOC105371475 Neighboring gene nitric oxide synthase 1 adaptor protein Neighboring gene Sharpr-MPRA regulatory region 2282

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

NHGRI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Genomewide association study for onset age in Parkinson disease.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA 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
DNA-binding transcription activator activity, RNA polymerase II-specific IC
Inferred by Curator
more info
 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
cAMP response element binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nuclear envelope TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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_007348.4NP_031374.2  cyclic AMP-dependent transcription factor ATF-6 alpha

    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
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 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

    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

    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_011509310.2XP_011507612.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X4

    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
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