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

Also Known as CHF2; OAF1; HERP2; HESR1; HRT-1; NERP2; hHRT1; BHLHb31

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23462

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
15485867 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
21290414 GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
18239137 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
10692439 GOA
enables cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
18239137 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15485867 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in Notch signaling pathway IDA
IDA: Inferred from direct assay
10964718 GOA
involved in angiogenesis IEP
IEP: Inferred from expression pattern
11866539 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15485867 GOA
involved in negative regulation of Notch signaling pathway IDA
IDA: Inferred from direct assay
18239137 GOA
involved in negative regulation of smooth muscle cell differentiation IDA
IDA: Inferred from direct assay
18239137 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
16043483 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
11486045 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEY1 Protein Structure

HLH

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

Hairy_orange

Hairy_orange: Hairy Orange (122 - 164)

  • 0
  • 100
  • 200
  • 304 a.a.
Protein Preferred Names Protein Names

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

  • HES-related repressor protein 1

HEY1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HEY1 Q9Y5J3 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
HEY1 Q9Y5J3 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
HEY1 Q9Y5J3 PLEKHB2 Homo sapiens Q96CS7 32296183
Intra
HEY1 Q9Y5J3 PLEKHB2 Homo sapiens Q96CS7 32296183
Intra
HEY1 Q9Y5J3 DAZAP2 Homo sapiens Q15038 32296183
Intra
HEY1 Q9Y5J3 DAZAP2 Homo sapiens Q15038 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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]

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others HEY1 NCBI