2. Gene
  3. HEYL - hes related family bHLH transcription factor with YRPW motif like Gene

HEYL - hes related family bHLH transcription factor with YRPW motif like Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：具有 YRPW 基序的 hes 相关家族 bHLH 转录因子

种属: Homo sapiens

同用名: HEY3; HRT3; HESR3; bHLHb33

基因 ID: 26508 | 基因类型: protein coding

关于 HEYL

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:39,623,435-39,639,643 (from NCBI)

This gene has 1 transcript (splice variant), 753 orthologues and 12 paralogues. Broad expression in testis (RPKM 14.5), placenta (RPKM 14.3) and 23 other tissues.

功能概要

该基因编码基本螺旋-环-螺旋 (bHLH) 型转录因子的分裂相关 (HESR) 家族的一个成员。编码蛋白的序列包含一个保守的 bHLH 和橙色结构域，但其 YRPW 基序与其他 HESR 家族成员不同。它被认为是 Notch 信号的效应器和细胞命运决定的调节器。已发现可变剪接的转录本变体，但尚未确定其生物学有效性。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

HEYL 基因产物(1)

mRNA Protein Name
NM_014571.4 NP_055386.2 hairy/enhancer-of-split related with YRPW motif-like protein
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 AF-1 domain binding IPI
IPI: 通过物理相互作用推断
21454491 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
15485867 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
21290414 GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
21454491 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15485867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Notch signaling pathway IDA
IDA: 通过直接分析推断
10964718 GOA
involved in negative regulation of DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
21454491 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
15485867 GOA
involved in negative regulation of androgen receptor signaling pathway IDA
IDA: 通过直接分析推断
21454491 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
21290414 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
21454491 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

HEYL 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (45 - 98)

Hairy_orange

Hairy_orange: Hairy Orange (117 - 160)

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

hairy/enhancer-of-split related with YRPW motif-like protein

HEY-like protein

HEYL 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 HEYL Q9NQ87 RPGRIP1 Homo sapiens Q96KN7
Validated Y2H
25416956
Intra HEYL Q9NQ87 RPGRIP1 Homo sapiens Q96KN7
Y2H Prey Pooling
25416956
Intra HEYL Q9NQ87 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
Intra HEYL Q9NQ87 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
Intra HEYL Q9NQ87 PLEKHB2 Homo sapiens Q96CS7
Y2H Prey Pooling
32296183
Intra HEYL Q9NQ87 PLEKHB2 Homo sapiens Q96CS7
Y2H Array
32296183
Intra HEYL Q9NQ87 MDFI Homo sapiens Q99750
Y2H Array
32296183
Intra HEYL Q9NQ87 MDFI Homo sapiens Q99750
Y2H
21516116
Intra HEYL Q9NQ87 MDFI Homo sapiens Q99750
Y2H Prey Pooling
25416956
Intra HEYL Q9NQ87 MDFI Homo sapiens Q99750
Validated Y2H
25416956
Intra HEYL Q9NQ87 MDFI Homo sapiens Q99750
Y2H Prey Pooling
32296183
Intra HEYL Q9NQ87 RBPMS Homo sapiens Q93062
Validated Y2H
25416956
Intra HEYL Q9NQ87 RBPMS Homo sapiens Q93062
Y2H Array
25416956
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
Corneal Argyrosis

Argentous Corneal Deposits

Argyrosis Of Cornea

Argentous Corneal Deposit
Deep Corneal Vascularisation

Deep Vascularization Of Cornea
Cerebellopontine Angle Meningioma

Meningioma Of The Cerebellar Pontine Angle
Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve
Hypopyon
Lateral Meningocele Syndrome

Lehman Syndrome

Lms

LMNS

Meningocele, Lateral Syndrome
Cerebellopontine Angle Tumor

Cerebellopontine Angle Tumour

Neoplasm Of The Cerebellopontine Angle
Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible

Cheney Syndrome

Arthrodentoosteodysplasia

HJCYS

Serpentine Fibula-Polycystic Kidney Syndrome

Sfpks

Acroosteolysis Dominant Type

Serpentine Fibula-Polycystic Kidneys Syndrome

Arthro-Dento-Osteo Dysplasia

Cranioskeletal Dysplasia With Acro-Osteolysis

Familial Osteodysplasia

Hereditary Osteodysplasia With Acro-Osteolysis

Hcs

Serpentine Fibula Syndrome

Acro-Osteolysis

Serpentine Fibula Polycystic Kidney Syndrome
Corneal Ulcer

Cornea Ulcer

Ulcerative Keratitis

Corneal Ulcer Nos
Keratopathy
Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal
Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06148 HEYL Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus HEYL VGNC VGNC:80229
Macaca mulatta HEYL VGNC VGNC:73370
Rattus norvegicus HEYL RGD RGD:1305022
Bos taurus HEYL VGNC VGNC:29830
Mus musculus HEYL MGD MGI:1860511
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