1. Gene
  2. BMAL1 - basic helix-loop-helix ARNT like 1 Gene

BMAL1 - basic helix-loop-helix ARNT like 1 Gene

中文名称:基本的螺旋-环-螺旋 ARNT 样 1

种属: Homo sapiens

同用名: TIC; JAP3; MOP3; ARNTL; PASD3; ARNTL1; BMAL1c; bHLHe5

基因 ID: 406 | 基因类型: protein coding

关于 BMAL1

Cytogenetic location: 11p15.3 Genomic coordinates (GRCh38): 11:13,276,652-13,387,266 (from NCBI)

This gene has 28 transcripts (splice variants), 243 orthologues and 6 paralogues. Ubiquitous expression in adrenal (RPKM 8.3), skin (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种基本的螺旋-环-螺旋蛋白,与 CLOCK 形成异二聚体。这种异二聚体结合周期 (PER1、PER2、PER3) 和隐花色素 (CRY1、CRY2) 基因上游的 E-box 增强子元件并激活这些基因的转录。 PER 和 CRY 蛋白通过在反馈回路中与 CLOCK/ARNTL 复合物相互作用而异二聚化并抑制其自身的转录。该基因的缺陷与不育、糖异生和脂肪生成问题以及睡眠模式改变有关。该蛋白调节干扰素刺激的基因表达,是包括 COVID-19 在内的病毒感染的重要因素。[RefSeq 提供,2021 年 10 月]

The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. The protein regulates interferon-stimulated gene expression and is an important factor in viral Infection, including COVID-19. [provided by RefSeq, Oct 2021]

BMAL1 基因产物(27)

mRNA Protein Name
NM_001030272.3 NP_001025443.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001030273.3 NP_001025444.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform b
NM_001178.6 NP_001169.3 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001297719.2 NP_001284648.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform c
NM_001297722.2 NP_001284651.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform c
NM_001297724.2 NP_001284653.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351804.1 NP_001338733.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001351805.2 NP_001338734.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform g
NM_001351806.2 NP_001338735.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform h
NM_001351807.2 NP_001338736.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform e
NM_001351808.2 NP_001338737.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351809.2 NP_001338738.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform i
NM_001351810.2 NP_001338739.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform k
NM_001351811.2 NP_001338740.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform m
NM_001351812.2 NP_001338741.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform i
NM_001351813.2 NP_001338742.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform j
NM_001351814.2 NP_001338743.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform e
NM_001351815.2 NP_001338744.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001351816.2 NP_001338745.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351817.2 NP_001338746.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform k
NM_001351818.2 NP_001338747.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform b
NM_001351819.2 NP_001338748.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform f
NM_001351820.2 NP_001338749.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351821.2 NP_001338750.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351822.2 NP_001338751.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351823.2 NP_001338752.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform n
NM_001351824.2 NP_001338753.1 aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform c
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 IDA
IDA: 通过直接分析推断
11441146 GOA
enables DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
25936801 GOA
enables E-box binding IDA
IDA: 通过直接分析推断
12738229 GOA
enables Hsp90 protein binding IDA
IDA: 通过直接分析推断
9079689 GOA
enables aryl hydrocarbon receptor binding IPI
IPI: 通过物理相互作用推断
9079689 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11018023 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in circadian regulation of gene expression IDA
IDA: 通过直接分析推断
23229515 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11441146 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
21628546 GOA
involved in positive regulation of circadian rhythm IDA
IDA: 通过直接分析推断
23229515 GOA
involved in positive regulation of protein acetylation IMP
IMP: 通过突变表型推断
28985504 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
20093779 GOA
involved in regulation of hair cycle IMP
IMP: 通过突变表型推断
24005054 GOA
involved in response to redox state IDA
IDA: 通过直接分析推断
11441146 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CLOCK-BMAL transcription complex IPI
IPI: 通过物理相互作用推断
23229515 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23229515 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

BMAL1 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (74 - 125)

PAS

PAS: PAS fold (149 - 252)

PAS_11

PAS_11: PAS domain (338 - 440)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 625 a.a.
蛋白主名 其他名称

aryl hydrocarbon receptor nuclear translocator-like protein 1

ARNT-like protein 1, brain and muscle

BMAL1 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
种属内
BMAL1 O00327 HIF1A Homo sapiens D0VY79 25416956
种属内
BMAL1 O00327 HIF1A Homo sapiens D0VY79 25416956
种属内
BMAL1 O00327 CLOCK Homo sapiens O15516 28388406
种属内
BMAL1 O00327 CLOCK Homo sapiens O15516 31515488
种属内
BMAL1 O00327 NPAS2 Homo sapiens Q99743 33961781
种属内
BMAL1 O00327 NPAS2 Homo sapiens Q99743 20211142
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
Delayed Sleep Phase Disorder

Delayed Sleep Phase Syndrome

Delayed Sleep Phase Syndrome, Susceptibility To

DSPD

Delayed Sleep Phase Disorder, Susceptibility To

DSPS

Sleep Phase, Delayed, Disorder

Sleep Phase Syndrome, Delayed, Susceptibility To

Rem Sleep Behavior Disorder

Rapid Eye Movement Sleep Behavior Disorder

Rem Sleep Behaviour Disorder

Rapid Eye Movement Sleep Behaviour Disorder

Rem - [Rapid Eye Movement] Behaviour Disorder

Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial

Covid-19

2019 Novel Coronavirus

2019-Ncov Infection

Covid19

Sars-Cov-2 Infection

Wuhan Coronavirus Infection

Wuhan Seafood Market Pneumonia Virus Infection

Sleep Disorder

Sleep Disorders

Non-Organic Sleep Disorder

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Bile Duct Cystadenoma

Cystadenoma Of The Bile Duct

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Apnea, Obstructive Sleep

Obstructive Sleep Apnea Syndrome

Obstructive Sleep Apnea

Sleep Apnea, Obstructive

Osa

Osas

Sleep Apnea/Hypopnea Syndrome

Sahs

Upper Airway Resistance Sleep Apnea Syndrome

Apnea, Obstructive

Obstructive Apnea

Osahs

Sleep Apnea Hypopnea Syndrome

Sleep Apnea Syndrome, Obstructive

Sleep Apnea Obstructive

Sleep Apnea Syndromes

Obstructive Sleep Apnoea Syndrome

Obstructive Sleep Apnoea, Adult

Osa - [Obstructive Sleep Apnoea]

Obstructive Sleep Apnoea, Paediatric

Obstructive Sleep Apnoea Hypopnoea Syndrome

Osa Syndrome

Sleep Apnoea Nos

[Sas] - Sleep Apnoea Syndrome

Sleep Apnoea Syndrome

[Osahs] - Obstructive Sleep Apnoea-Hypopnea Syndrome

[Sahs] - Sleep Apnoea-Hypopnea Syndrome

Diabetes Mellitus

Diabetes

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta BMAL1 VGNC VGNC:99550
Felis catus BMAL1 VGNC VGNC:81906
Bos taurus BMAL1 VGNC VGNC:54628
Canis familiaris BMAL1 VGNC VGNC:52062
Rattus norvegicus BMAL1 RGD RGD:62003
Mus musculus BMAL1 MGD MGI:1096381