1. Gene
  2. BHLHE41 - basic helix-loop-helix family member e41 Gene

BHLHE41 - basic helix-loop-helix family member e41 Gene

中文名称:基本螺旋-环-螺旋家族成员 e41

种属: Homo sapiens

同用名: DEC2; FNSS1; hDEC2; BHLHB3; SHARP1

基因 ID: 79365 | 基因类型: protein coding

关于 BHLHE41

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:26,120,030-26,125,037 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 12 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 31.2), brain (RPKM 21.3) and 19 other tissues.

功能概要

该基因编码在各种组织中表达的基本螺旋-环-螺旋蛋白。编码的蛋白质可以与 ARNTL 相互作用或竞争 PER1 启动子中的 E-box 结合位点,并抑制 CLOCK/ARNTL 对 PER1 的反式激活。该基因被认为与昼夜节律和细胞分化的控制有关。该基因的缺陷与短睡眠表型有关。[RefSeq 提供,2014 年 2 月]

This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]

BHLHE41 基因产物(1)

mRNA Protein Name
NM_030762.3 NP_110389.1 class E basic helix-loop-helix protein 41
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
19786558 GOA
enables E-box binding IDA
IDA: 通过直接分析推断
14672706 GOA
enables bHLH transcription factor binding IPI
IPI: 通过物理相互作用推断
15193144 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19786558 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
15193144 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 negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
14672706 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

BHLHE41 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (49 - 99)

Hairy_orange

Hairy_orange: Hairy Orange (130 - 172)

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

class E basic helix-loop-helix protein 41

basic helix-loop-helix domain containing, class B, 3

BHLHE41 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
BHLHE41 Q9C0J9 HIF1A Homo sapiens Q16665
Anti Bait CoIP
22801492
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
Short Sleep, Familial Natural, 1

FNSS1

Short Sleep Phenotype

Sleep, Short, Natural, Familial, Type 1

Advanced Sleep Phase Syndrome, Familial, 1

Advanced Sleep Phase Syndrome 1

FASPS1

Familial Advanced Sleep Phase Syndrome 1

Sleep Phase Syndrome, Advanced, Familial, Type 1

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

Erythrocytosis, Familial, 5

ECYT5

Familial Erythrocytosis 5

Erythrocytosis, Familial, 3

ECYT3

Familial Erythrocytosis 3

Erythrocytosis, Familial, Type 3

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

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

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
Rattus norvegicus BHLHE41 RGD RGD:70900
Mus musculus BHLHE41 MGD MGI:1930704
Bos taurus BHLHE41 VGNC VGNC:26487
Canis familiaris BHLHE41 VGNC VGNC:57419
Macaca mulatta BHLHE41 VGNC VGNC:108327