Homo sapiens Gene: HEYL
Summary
InnateDB Gene IDBG-96732.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEYL
Gene Name hairy/enhancer-of-split related with YRPW motif-like
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000163909
Encoded Proteins
hairy/enhancer-of-split related with YRPW motif-like
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:39624153-39639945
Strand Reverse strand
Band p34.2
Transcripts
ENST00000372852 ENSP00000361943
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 27 [view]
Protein-Protein 27 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0000988 protein binding transcription factor activity
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001106 RNA polymerase II transcription corepressor activity
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0035939 microsatellite binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0050683 AF-1 domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0003151 outflow tract morphogenesis
GO:0003181 atrioventricular valve morphogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003203 endocardial cushion morphogenesis
GO:0003208 cardiac ventricle morphogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0010629 negative regulation of gene expression
GO:0014031 mesenchymal cell development
GO:0032835 glomerulus development
GO:0035914 skeletal muscle cell differentiation
GO:0045666 positive regulation of neuron differentiation
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:0060412 ventricular septum morphogenesis
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0071773 cellular response to BMP stimulus
GO:0072014 proximal tubule development
GO:2000824 negative regulation of androgen receptor activity
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
NOTCH1 Intracellular Domain Regulates Transcription pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 in Cancer pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
Disease pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.472566
RefSeq NM_014571 XM_005270745
HUGO
OMIM
CCDS CCDS439
HPRD 16419
IMGT
EMBL
GenPept
RNA Seq Atlas