Homo sapiens Protein: HEY1
Summary
InnateDB Protein IDBP-26243.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEY1
Protein Name hairy/enhancer-of-split related with YRPW motif 1
Synonyms BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1; OAF1;
Species Homo sapiens
Ensembl Protein ENSP00000346761
InnateDB Gene IDBG-26239 (HEY1)
Protein Structure
UniProt Annotation
Function Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'- CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6. {ECO:0000269PubMed:11095750, ECO:0000269PubMed:15485867}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00380, ECO:0000255PROSITE-ProRule:PRU00981}.
Disease Associations
Tissue Specificity Expressed in the somitic mesoderm, the central nervous system, the kidney, the heart, nasal epithelium, and limbs.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 17 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0000988 protein binding transcription factor activity
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0035939 microsatellite binding
GO:0046983 protein dimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001525 angiogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003190 atrioventricular valve formation
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003203 endocardial cushion morphogenesis
GO:0003208 cardiac ventricle morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0035912 dorsal aorta morphogenesis
GO:0036304 umbilical cord morphogenesis
GO:0045746 negative regulation of Notch signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060317 cardiac epithelial to mesenchymal transition
GO:0060347 heart trabecula formation
GO:0060411 cardiac septum morphogenesis
GO:0060412 ventricular septum morphogenesis
GO:0060716 labyrinthine layer blood vessel development
GO:0060842 arterial endothelial cell differentiation
GO:0061314 Notch signaling involved in heart development
GO:2000678 negative regulation of transcription regulatory region DNA binding
GO:2000820 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation
GO:2001212 regulation of vasculogenesis
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR003650 Orange
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
IPR018352 Orange subgroup
PFAM PF07527
PF00010
PRINTS
PIRSF
SMART SM00353
SM00511
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y5J3
PhosphoSite PhosphoSite-Q9Y5J3
TrEMBL E5RHK6
UniProt Splice Variant
Entrez Gene 23462
UniGene Hs.600989
RefSeq NP_036390
HUGO HGNC:4880
OMIM 602953
CCDS CCDS6225
HPRD 04260
IMGT
EMBL AC016240 AF151522 AF176422 AF232239 AF311883 AJ272214 AK092437 AK313271 BC001873 BT020065 CH471068
GenPept AAD38967 AAD51749 AAF37297 AAG31156 AAH01873 AAV38868 BAC03890 BAG36080 CAB75715 EAW87066