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

Gene ID: 22926, updated on 2-Mar-2021

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
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Genomic context

See ATF6 in Genome Data Viewer
Location:
1q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161766320..161964070)
105.20201022 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 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
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
GeneReviews: Not available
Genomewide association study for onset age in Parkinson disease.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

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

Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
chromatin ISA
Inferred from Sequence Alignment
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 envelope TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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 109.20210226

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

    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_011509310.2XP_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
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