• Gene id: 1388

Gene Summary

• Gene Symbol: ATF6B   Gene   UCSC   Ensembl
• Aliases: CREB-RP, CREBL1, G13
• Gene name: activating transcription factor 6 beta
• Alternate names: cyclic AMP-dependent transcription factor ATF-6 beta, 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,
• Gene location: 6p21.32 (32128245: 32115263)     Exons: 18     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 608830

SNPs

rs200847762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32129371G>A
NC_000006.11   g.32097148G>A
NG_033940.1   g.3870C>T
NT_113891.3   g.3567702G>A
NT_113891.2   g.3567808G>A
NT_167247.2   g.3471391G>A
NT_167247.1   g.3476976G>A
NT_167245.2   g.3370735G>A
NT_167245.1   g.3376320G>A
NM_022110.4   c.410C>T
NM_  

Protein Summary

• Protein general information: Q99941  
  • Name: Cyclic AMP dependent transcription factor ATF 6 beta (cAMP dependent transcription factor ATF 6 beta) (Activating transcription factor 6 beta) (ATF6 beta) (Protein G13) (cAMP response element binding protein related protein) (Creb rp) (cAMP responsive ele
  • Length: 703  
  • Mass: 76709
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAELMLLSEIADPTRFFTDNLLSPEDWGLQNSTLYSGLDEVAEEQTQLFRCPEQDVPFDGSSLDVGMDVSPSEPP
  WELLPIFPDLQVKSEPSSPCSSSSLSSESSRLSTEPSSEALGVGEVLHVKTESLAPPLCLLGDDPTSSFETVQIN
  VIPTSDDSSDVQTKIEPVSPCSSVNSEASLLSADSSSQAFIGEEVLEVKTESLSPSGCLLWDVPAPSLGAVQISM
  GPSLDGSSGKALPTRKPPLQPKPVVLTTVPMPSRAVPPSTTVLLQSLVQPPPVSPVVLIQGAIRVQPEGPAPSLP
  RPERKSIVPAPMPGNSCPPEVDAKLLKRQQRMIKNRESACQSRRKKKEYLQGLEARLQAVLADNQQLRRENAALR
  RRLEALLAENSELKLGSGNRKVVCIMVFLLFIAFNFGPVSISEPPSAPISPRMNKGEPQPRRHLLGFSEQEPVQG
  VEPLQGSSQGPKEPQPSPTDQPSFSNLTAFPGGAKELLLRDLDQLFLSSDCRHFNRTESLRLADELSGWVQRHQR
  GRRKIPQRAQERQKSQPRKKSPPVKAVPIQPPGPPERDSVGQLQLYRHPDRSQPAFLDAIDRREDTFYVVSFRRD
  HLLLPAISHNKTSRPKMSLVMPAMAPNETLSGRGAPGDYEEMMQIECEVMDTRVIHIKTSTVPPSLRKQPSPTPG
  NATGGPLPVSAASQAHQASHQPLYLNHP

• Structural information:
  • Protein Domains: (325..38-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR029809  IPR004827  
  • Prosite: PS50217 PS00036
  • STRING: ENSP00000364349
• Other Databases: GeneCards:  ATF6B  Malacards:  ATF6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0036500	ATF6-mediated unfolded protein response	TAS	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	TAS	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1990440	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IDA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	contributes to
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	contributes to
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0035497	cAMP response element binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1903892	negative regulation of ATF6-mediated unfolded protein response	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05034	Alcoholism
hsa05203	Viral carcinogenesis
hsa04141	Protein processing in endoplasmic reticulum
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa05161	Hepatitis B
hsa04728	Dopaminergic synapse
hsa04926	Relaxin signaling pathway
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04668	TNF signaling pathway
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04911	Insulin secretion
hsa04211	Longevity regulating pathway
hsa04918	Thyroid hormone synthesis
hsa05031	Amphetamine addiction
hsa04927	Cortisol synthesis and secretion
hsa05030	Cocaine addiction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray