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

    Gene ID: 22926, updated on 15-Jul-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATF6 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161766320..161964070)
    RS_2023_10 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161719946-161720592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2005 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2007 Neighboring gene uncharacterized LOC124904444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2008 Neighboring gene dual specificity phosphatase 12 Neighboring gene ATF6 divergent transcript Neighboring gene proteasome activator subunit 3 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161972665-161973166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1489 Neighboring gene Sharpr-MPRA regulatory region 11962 Neighboring gene olfactomedin like 2B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:162025767-162026281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1492 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:162061183-162061778 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:162061779-162062373 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_577 Neighboring gene uncharacterized LOC105371475 Neighboring gene nitric oxide synthase 1 adaptor protein Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:162106088-162107287 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162114645-162115359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162121700-162122200 Neighboring gene microRNA 4654

    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

    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
     
    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 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 
    part_of 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 

    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, A8K383
      Related
      ENSP00000506149.1, ENST00000679853.1
    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
      O15139, P18850, Q5VW62, Q6IPB5, 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: GCF_000001405.40-RS_2023_10

    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, A8K383
      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

      UniProtKB/TrEMBL
      A8K383
      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_047449542.1XP_047305498.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X4

      UniProtKB/TrEMBL
      A0A7P0T8R5
    4. XM_011509310.3XP_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: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)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A7P0Z421, A8K383
    2. XM_054335216.1XP_054191191.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X2

      UniProtKB/TrEMBL
      A8K383
    3. XM_054335218.1XP_054191193.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X4

      UniProtKB/TrEMBL
      A0A7P0T8R5
    4. XM_054335217.1XP_054191192.1  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X3

      UniProtKB/TrEMBL
      A0A7P0T8R5