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ATF6B activating transcription factor 6 beta [ Homo sapiens (human) ]

Gene ID: 1388, updated on 22-Aug-2020

Summary

Official Symbol
ATF6Bprovided by HGNC
Official Full Name
activating transcription factor 6 betaprovided by HGNC
Primary source
HGNC:HGNC:2349
See related
Ensembl:ENSG00000213676 MIM:600984
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
G13; CREBL1; CREB-RP
Summary
The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in spleen (RPKM 32.2), skin (RPKM 32.1) and 25 other tissues See more
Orthologs

Genomic context

See ATF6B in Genome Data Viewer
Location:
6p21.32
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32115264..32128246, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32083045..32096017, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tenascin XB recombination region Neighboring gene cytochrome P450 family 21 subfamily A member 2 Neighboring gene tenascin XB Neighboring gene RNA, 5S ribosomal pseudogene 206 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1802 Neighboring gene FKBP prolyl isomerase like

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
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
GeneReviews: Not available
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: TNXB

Homology

Clone Names

  • FLJ10066

Gene Ontology Provided by GOA

Component Evidence Code Pubs
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
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 
integral component of endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-DNA complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cyclic AMP-dependent transcription factor ATF-6 beta
Names
Creb-related protein
cAMP response element-binding protein-related protein
cAMP-dependent transcription factor ATF-6 beta
cAMP-responsive element-binding protein-like 1
protein G13

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_033940.1 RefSeqGene

    Range
    4995..17977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136153.2NP_001129625.1  cyclic AMP-dependent transcription factor ATF-6 beta isoform b

    See identical proteins and their annotated locations for NP_001129625.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 3' end of exon 1 compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 3 aa shorter compared to isoform a.
    Source sequence(s)
    AL662884, U31903, X98054
    Consensus CDS
    CCDS47408.1
    UniProtKB/Swiss-Prot
    Q99941
    UniProtKB/TrEMBL
    A0A1U9X796
    Related
    ENSP00000364347.4, ENST00000375201.8
    Conserved Domains (2) summary
    cd14700
    Location:325376
    bZIP_ATF6; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-6 (ATF-6) and similar proteins: a DNA-binding and dimerization domain
    pfam14362
    Location:301411
    DUF4407; Domain of unknown function (DUF4407)
  2. NM_004381.5NP_004372.3  cyclic AMP-dependent transcription factor ATF-6 beta isoform a

    See identical proteins and their annotated locations for NP_004372.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL662884, BC077075, X98054
    Consensus CDS
    CCDS4737.1
    UniProtKB/Swiss-Prot
    Q99941
    UniProtKB/TrEMBL
    Q6AZW6
    Related
    ENSP00000364349.3, ENST00000375203.8
    Conserved Domains (1) summary
    cd14700
    Location:328379
    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 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32115264..32128246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3553597..3566577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    3356630..3369610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3457284..3470266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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