ATF6 - activating transcription factor 6 Gene

中文名称：激活转录因子 6

种属: Homo sapiens

同用名: ACHM7; ATF6A

基因 ID: 22926 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的转录因子可在内质网 (ER) 应激期间激活未折叠蛋白反应 (UPR) 的靶基因。虽然它是一种转录因子，但这种蛋白质的不同寻常之处在于它是作为嵌入 ER 中的跨膜蛋白合成的。它作为 ER 应激传感器/转换器发挥作用，在 ER 应激诱导的蛋白水解后，它通过存在于编码 ER 伴侣蛋白的基因启动子中的顺式作用 ER 应激反应元件 (ERSE) 作为核转录因子发挥作用。这种蛋白质已被确定为静止而非增殖性鳞状癌细胞的存活因子。关于该基因多态性与不同人群糖尿病相关性的报道相互矛盾，但另一种多态性与血浆胆固醇水平升高有关。该基因也被认为是囊性纤维化的潜在治疗靶点。[RefSeq 提供，2011 年 8 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	14973138	GOA
enables DNA-binding transcription factor activity	IDA IDA: 通过直接分析推断	11163209	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	24269637	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	11779464	GOA
enables enzyme binding	IPI IPI: 通过物理相互作用推断	11163209	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	20102225	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16469704	GOA
enables protein heterodimerization activity	IPI IPI: 通过物理相互作用推断	16469704	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	16469704	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in eye development	IMP IMP: 通过突变表型推断	26029869	GOA
involved in positive regulation of ATF6-mediated unfolded protein response	IDA IDA: 通过直接分析推断	9837962	GOA
involved in positive regulation of apoptotic process	IDA IDA: 通过直接分析推断	14752510	GOA
acts upstream of or within positive regulation of autophagy	IMP IMP: 通过突变表型推断	28747345	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	11163209	GOA
involved in response to endoplasmic reticulum stress	IDA IDA: 通过直接分析推断	11163209	GOA
involved in visual perception	IMP IMP: 通过突变表型推断	26029869	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	16236796	GOA
part of RNA polymerase II transcription regulator complex	IPI IPI: 通过物理相互作用推断	23661758	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	11256944	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	10564271	GOA
located in membrane	IDA IDA: 通过直接分析推断	11163209	GOA
located in nucleus	IDA IDA: 通过直接分析推断	11163209	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ATF6 蛋白结构

bZIP_1

0
200
400
600
670 a.a.

蛋白主名

其他名称

cyclic AMP-dependent transcription factor ATF-6 alpha

cAMP-dependent transcription factor ATF-6 alpha

ATF6 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-108434	Ceapin-A7		99.63%	否
HY-124293	AA147	Activator	99.89%	否

直系同源

种属	基因名	来源	基因 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

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