ATF6 - activating transcription factor 6 Gene

Also Known as ACHM7; ATF6A

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 22926

About ATF6

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,766,320-161,964,070 (from NCBI)

This gene has 21 transcripts (splice variants), 218 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 11.4), placenta (RPKM 9.1) and 25 other tissues.

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]

ATF6 Products (7)

mRNA	Protein	Name
XM_011509309.1	XP_011507611.1	cyclic AMP-dependent transcription factor ATF-6 alpha isoform X2
XM_006711224.1	XP_006711287.1	cyclic AMP-dependent transcription factor ATF-6 alpha isoform X3
NM_001410890.1	NP_001397819.1	cyclic AMP-dependent transcription factor ATF-6 alpha isoform 2
XM_011509308.1	XP_011507610.1	cyclic AMP-dependent transcription factor ATF-6 alpha isoform X1
XM_047449542.1	XP_047305498.1	cyclic AMP-dependent transcription factor ATF-6 alpha isoform X5
NM_007348.4	NP_031374.2	cyclic AMP-dependent transcription factor ATF-6 alpha isoform 1
XM_011509310.3	XP_011507612.1	cyclic AMP-dependent transcription factor ATF-6 alpha isoform X4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	14973138	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11163209	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	24269637	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11779464	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	11163209	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20102225	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16469704	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	16469704	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	16469704	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in eye development	IMP IMP: Inferred from mutant phenotype	26029869	GOA
involved in positive regulation of ATF6-mediated unfolded protein response	IDA IDA: Inferred from direct assay	9837962	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	14752510	GOA
acts upstream of or within positive regulation of autophagy	IMP IMP: Inferred from mutant phenotype	28747345	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11163209	GOA
involved in response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	11163209	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	26029869	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16236796	GOA
part of RNA polymerase II transcription regulator complex	IPI IPI: Inferred from physical interaction	23661758	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	11256944	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	10564271	GOA
located in membrane	IDA IDA: Inferred from direct assay	11163209	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11163209	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATF6 Protein Structure

bZIP_1

0
200
400
600
670 a.a.

Protein Preferred Names	Protein Names
cyclic AMP-dependent transcription factor ATF-6 alpha	cAMP-dependent transcription factor ATF-6 alpha

ATF6 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	ATF6	P18850	ATF6B	Homo sapiens	Q99941	FRET	23661758
Intra	ATF6	P18850	XBP1	Homo sapiens	P17861	FRET	23661758
Intra	ATF6	P18850	XBP1	Homo sapiens	P17861	Peptide Array	20102225
Intra	ATF6	P18850	ATF6	Homo sapiens	P18850	TAP	25609649
Intra	ATF6	P18850	ATF6	Homo sapiens	P18850	Peptide Array	12805554
Intra	ATF6	P18850	COP1	Homo sapiens	Q8NHY2	Anti Tag CoIP	33961781
Intra	ATF6	P18850	COP1	Homo sapiens	Q8NHY2	TAP	25609649
Intra	ATF6	P18850	STK40	Homo sapiens	Q8N2I9	Anti Tag CoIP	33961781
Intra	ATF6	P18850	ATF6	Homo sapiens	P18850	Peptide Array	20102225
Intra	ATF6	P18850	ATF6	Homo sapiens	P18850	FRET	23661758
Intra	ATF6	P18850	STK40	Homo sapiens	Q8N2I9	TAP	25609649
Intra	ATF6	P18850	CREB3L3	Homo sapiens	Q68CJ9	Anti Bait CoIP	16469704
Intra	ATF6	P18850	CREB3L3	Homo sapiens	Q68CJ9	Anti Tag CoIP	16469704

Cross: Cross-species interaction Intra: Intraspecies interaction

ATF6 抗体

製品番号	製品名	アプリケーション	反応性
HY-P80379	ATF6 Antibody (YA831)	WB, IHC-P, FC	Human, Mouse, Rat
HY-P80554	ATF6 Antibody (YA604)	WB, IHC-P, IP	Human
HY-P80554A	ATF6 Antibody (YA604)(PBS only)	WB, IHC-P, IP	Human
HY-P86626	ATF6 Antibody (YA6318)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat

関連疾患

Diseases	Alias
Achromatopsia 4	ACHM4 Achromatopsia, Type 4
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Achromatopsia 7	ACHM7 Achromatopsia, Type 7
Achromatopsia 3	ACHM3 Pingelapese Blindness Total Colorblindness With Myopia Achromatopsia With Myopia Achm1 Rmch1 Rod Monochromacy 1 Rod Monochromatism 1 Achm1, Formerly Rod Monochromatism 1, Formerly Rod Monochromacy 1, Formerly Rmch1, Formerly Achromatopsia-3 Achromatopsia, Type 3
Huntington Disease	Huntington'S Disease Huntington Chorea HD Huntington'S Chorea Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Wolcott-Rallison Syndrome Med-Iddm Syndrome Iddm-Med Syndrome Wolcott Rallison Syndrome WRS Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Keratosis Follicularis Spinulosa Decalvans	Kfsd Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi Keratosis Follicularis Spinulosa Decalvans, X-Linked Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Wolfram Syndrome 1	WFS1 Didmoad Wfs Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome Wolfram Syndrome
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-108434	Ceapin-A7		99.95%	Unkown
HY-124293	AA147	Activator	99.81%	Unkown
HY-W050044	L-Azetidine-2-carboxylic acid		99.97%	Unkown
HY-101484A	NE-100 hydrochloride	Activator	99.1%	Unkown
HY-132182	HPA-12	Activator	99.40%	Unkown
HY-123581	Quinocetone	Activator	98.25%	Unkown
HY-158104	LPPM-8	Inhibitor	/	Unkown
HY-123581R	Quinocetone (Standard)	Activator	97.94%	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	ATF6	VGNC	VGNC:38212
Rattus norvegicus	ATF6	RGD	RGD:1305471
Mus musculus	ATF6	MGD	MGI:1926157
Felis catus	ATF6	VGNC	VGNC:107841
Bos taurus	ATF6	VGNC	VGNC:26244
Macaca mulatta	ATF6	VGNC	VGNC:70171
Others	ATF6	NCBI