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
About HEY1
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 |
HEY1 Protein Structure
HLH: Helix-loop-helix DNA-binding domain (53 - 104)
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 |
|
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 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Extraskeletal Mesenchymal Chondrosarcoma |
|
|
| Aortic Valve Disease 1 |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
|
| Mesenchymal Chondrosarcoma |
|
|
| Alagille Syndrome 1 |
|
|
| Hajdu-Cheney Syndrome |
|
|
| Spinal Canal Intradural Extramedullary Neoplasm |
|
|
| Lateral Meningocele Syndrome |
|
|
| Endosteal Hyperostosis, Autosomal Dominant |
|
|
| Adams-Oliver Syndrome |
|
|
| Glioblastoma |
|
|
| Spondylocostal Dysostosis |
|
|
| Arteriovenous Malformation |
|
|
| Bone Osteosarcoma |
|
|
| Tetralogy Of Fallot |
|
|
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 |