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

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; ATP6alpha
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: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161766320..161964070)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (161110648..161308347)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161736110..161933860)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The rs2341471-G/G genotype of activating transcription factor 6 (ATF6) is the risk factor of type 2 diabetes in subjects with obesity or overweight.
Title: The rs2341471-G/G genotype of activating transcription factor 6 (ATF6) is the risk factor of type 2 diabetes in subjects with obesity or overweight.
Arrestin beta-2 deficiency exacerbates periodontal inflammation by mediating activating transcription factor 6 activation and abnormal remodelling of the extracellular matrix.
Title: Arrestin beta-2 deficiency exacerbates periodontal inflammation by mediating activating transcription factor 6 activation and abnormal remodelling of the extracellular matrix.
KCNH2A561V Heterozygous Mutation Inhibits KCNH2 Protein Expression via The Activation of UPR Mediated by ATF6.
Title: KCNH2A561V Heterozygous Mutation Inhibits KCNH2 Protein Expression via The Activation of UPR Mediated by ATF6.
Reciprocal negative feedback regulation of ATF6alpha and PTEN promotes prostate cancer progression.
Title: Reciprocal negative feedback regulation of ATF6α and PTEN promotes prostate cancer progression.
Targeting the ATF6-Mediated ER Stress Response and Autophagy Blocks Integrin-Driven Prostate Cancer Progression.
Title: Targeting the ATF6-Mediated ER Stress Response and Autophagy Blocks Integrin-Driven Prostate Cancer Progression.
Unfolded protein response factor ATF6 augments T helper cell responses and promotes mixed granulocytic airway inflammation.
Title: Unfolded protein response factor ATF6 augments T helper cell responses and promotes mixed granulocytic airway inflammation.
Protocadherin 20 maintains intestinal barrier function to protect against Crohn's disease by targeting ATF6.
Title: Protocadherin 20 maintains intestinal barrier function to protect against Crohn's disease by targeting ATF6.
ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.
Title: ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.
Loss of ATF6alpha in a human carcinoma cell line is compensated not by its paralogue ATF6beta but by sustained activation of the IRE1 and PERK arms for tumor growth in nude mice.
Title: Loss of ATF6α in a human carcinoma cell line is compensated not by its paralogue ATF6β but by sustained activation of the IRE1 and PERK arms for tumor growth in nude mice.
ATF6-Mediated Signaling Contributes to PARP Inhibitor Resistance in Ovarian Cancer.
Title: ATF6-Mediated Signaling Contributes to PARP Inhibitor Resistance in Ovarian Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (147)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genomewide association study for onset age in Parkinson disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G16275 (e-PCR)
- UniSTS:24836

RH78635 (e-PCR)
- UniSTS:10007

WI-13539 (e-PCR)
- UniSTS:83490

RH69585 (e-PCR)
- UniSTS:5924

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

RH69812 (e-PCR)
- UniSTS:47683

L18426 (e-PCR)
- UniSTS:34648

D1S1425 (e-PCR)
- UniSTS:149621

RH68768 (e-PCR)
- UniSTS:10879

STS-H29771 (e-PCR)
- UniSTS:28545

D11S3114 (e-PCR)
- UniSTS:152207

AL034282 (e-PCR)
- UniSTS:94103

SHGC-32839 (e-PCR)
- UniSTS:63907

REN67335 (e-PCR)
- UniSTS:392135

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
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
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 enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
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

Process	Evidence Code	Pubs
involved_in ATF6-mediated unfolded protein response	NAS Non-traceable Author Statement more info	PubMed
involved_in ATF6-mediated unfolded protein response	TAS Traceable Author Statement more info	PubMed
involved_in ERAD pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in endoplasmic reticulum unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
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 by RNA polymerase II	TAS Traceable Author Statement 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
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to endoplasmic reticulum stress	TAS Traceable Author Statement 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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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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

NG_029773.1 RefSeqGene

Range

5077..202827

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410890.1 → NP_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

Related

ENSP00000506149.1, ENST00000679853.1
NM_007348.4 → NP_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

O15139, P18850, Q5VW62, Q6IPB5, Q9UEC9

UniProtKB/TrEMBL

A8K383

Related

ENSP00000356919.3, ENST00000367942.4

Conserved Domains (1) summary

cd14700
Location:309 → 360

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

161766320..161964070

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A7P0Z421, A8K383

Related

ENSP00000504865.1, ENST00000680688.1

Conserved Domains (1) summary

cd14700
Location:309 → 360

bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain
XM_011509309.1 → XP_011507611.1 cyclic AMP-dependent transcription factor ATF-6 alpha isoform X2

UniProtKB/TrEMBL

A8K383

Conserved Domains (1) summary

cd14700
Location:309 → 360

bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain
XM_047449542.1 → XP_047305498.1 cyclic AMP-dependent transcription factor ATF-6 alpha isoform X4
XM_011509310.3 → XP_011507612.1 cyclic AMP-dependent transcription factor ATF-6 alpha isoform X3

UniProtKB/TrEMBL

A0A7P0T8R5

Related

ENSP00000505583.1, ENST00000680462.1

Conserved Domains (1) summary

cd14700
Location:309 → 360

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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

161110648..161308347

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335215.1 → XP_054191190.1 cyclic AMP-dependent transcription factor ATF-6 alpha isoform X1

UniProtKB/TrEMBL

A0A7P0Z421
XM_054335216.1 → XP_054191191.1 cyclic AMP-dependent transcription factor ATF-6 alpha isoform X2
XM_054335218.1 → XP_054191193.1 cyclic AMP-dependent transcription factor ATF-6 alpha isoform X4
XM_054335217.1 → XP_054191192.1 cyclic AMP-dependent transcription factor ATF-6 alpha isoform X3