1. Gene
  2. HEY1 - hes related family bHLH transcription factor with YRPW motif 1 Gene

HEY1 - hes related family bHLH transcription factor with YRPW motif 1 Gene

中文名称:具有 YRPW 基序 1 的 hes 相关家族 bHLH 转录因子

种属: Homo sapiens

同用名: CHF2; OAF1; HERP2; HESR1; HRT-1; NERP2; hHRT1; BHLHb31

基因 ID: 23462 | 基因类型: protein coding

关于 HEY1

Cytogenetic location: 8q21.13 Genomic coordinates (GRCh38): 8:79,764,010-79,767,767 (from NCBI)

This gene has 14 transcripts (splice variants), 274 orthologues, 12 paralogues and is associated with 47 phenotypes. Biased expression in brain (RPKM 32.0), lung (RPKM 10.8) and 9 other tissues.

功能概要

该基因编码一种核蛋白,属于碱性螺旋-环-螺旋 (bHLH) 型转录抑制因子的分裂相关 (HESR) 家族的毛状和增强子。该基因的表达由 Notch 和 c-Jun 信号转导途径诱导。小鼠中两个相似且冗余的基因是胚胎心血管发育所必需的,并且还涉及神经发生和体细胞发生。可变剪接导致多个转录本变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

HEY1 基因产物(3)

mRNA Protein Name
NM_001040708.2 NP_001035798.1 hairy/enhancer-of-split related with YRPW motif protein 1 isoform b
NM_001282851.2 NP_001269780.1 hairy/enhancer-of-split related with YRPW motif protein 1 isoform c
NM_012258.4 NP_036390.3 hairy/enhancer-of-split related with YRPW motif protein 1 isoform a
基因本体论
  • 分子功能
  • 生物过程
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 angiogenesis IEP
IEP: 通过表达模式推断
11866539 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 Notch signaling pathway IDA
IDA: 通过直接分析推断
18239137 GOA
involved in negative regulation of smooth muscle cell differentiation IDA
IDA: 通过直接分析推断
18239137 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
16043483 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
11486045 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

HEY1 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (53 - 104)

Hairy_orange

Hairy_orange: Hairy Orange (122 - 164)

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

hairy/enhancer-of-split related with YRPW motif protein 1

HES-related repressor protein 1

HEY1 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 HEY1 Q9Y5J3 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
Intra HEY1 Q9Y5J3 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
Intra HEY1 Q9Y5J3 PLEKHB2 Homo sapiens Q96CS7
Y2H Prey Pooling
32296183
Intra HEY1 Q9Y5J3 PLEKHB2 Homo sapiens Q96CS7
Y2H Array
32296183
Intra HEY1 Q9Y5J3 DAZAP2 Homo sapiens Q15038
Y2H Prey Pooling
32296183
Intra HEY1 Q9Y5J3 DAZAP2 Homo sapiens Q15038
Y2H Array
32296183
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
Extraskeletal Mesenchymal Chondrosarcoma

Mesenchymal Extraosseous Chondrosarcoma

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

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Mesenchymal Chondrosarcoma

Chondrosarcoma, Mesenchymal

Chondrosarcoma Mesenchymal

Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1

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

Spinal Canal Intradural Extramedullary Neoplasm

Intradural Extramedullary Spinal Tumors

Intradural Extramedullary Spinal Canal Neoplasm

Lateral Meningocele Syndrome

Lehman Syndrome

Lms

LMNS

Meningocele, Lateral Syndrome

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis

Worth Syndrome

Osteosclerosis, Autosomal Dominant

Hyperostosis, Endosteal

Endosteal Hyperostosis, Worth Type

Worth Disease

Autosomal Dominant Endosteal Hyperostosis

Autosomal Dominant Osteosclerosis, Worth Type

Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus

Autosomal Dominant Osteosclerosis

Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus

Worth'S Syndrome

Worth Type Autosomal Dominant Osteosclerosis

Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus

Osteosclerosis, Autosomal Dominant, Worth Type

WENHY

Endosteal Hyperostosis Autosomal Dominant

Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus

Osteosclerosis Autosomal Dominant

Acquired Osteosclerosis

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

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

直系同源

种属 基因名 来源 基因 ID
Felis catus HEY1 VGNC VGNC:67559
Bos taurus HEY1 VGNC VGNC:29828
Mus musculus HEY1 MGD MGI:1341800
Macaca mulatta HEY1 VGNC VGNC:73368
Rattus norvegicus HEY1 RGD RGD:621403
Canis familiaris HEY1 VGNC VGNC:54114