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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
8
Cytoband
q21.13
Chromosome location (bp)
79762371 - 79767857
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' 1. Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3 2. Involved in the regulation of liver cancer cells self-renewal 3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9Y5J3 [Direct mapping] Hairy/enhancer-of-split related with YRPW motif protein 1
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Transporters Primary Active Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001525[angiogenesis] GO:0003161[cardiac conduction system development] GO:0003180[aortic valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003190[atrioventricular valve formation] GO:0003203[endocardial cushion morphogenesis] GO:0003208[cardiac ventricle morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0009952[anterior/posterior pattern specification] GO:0035912[dorsal aorta morphogenesis] GO:0036304[umbilical cord morphogenesis] GO:0045665[negative regulation of neuron differentiation] GO:0045746[negative regulation of Notch signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0050767[regulation of neurogenesis] 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:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070168[negative regulation of biomineral tissue development] GO:0072359[circulatory system development] GO:1990837[sequence-specific double-stranded DNA binding] 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]
Q9Y5J3 [Direct mapping] Hairy/enhancer-of-split related with YRPW motif protein 1
Show all
Transporters Primary Active Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001525[angiogenesis] GO:0003161[cardiac conduction system development] GO:0003180[aortic valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003190[atrioventricular valve formation] GO:0003203[endocardial cushion morphogenesis] GO:0003208[cardiac ventricle morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0009952[anterior/posterior pattern specification] GO:0035912[dorsal aorta morphogenesis] GO:0036304[umbilical cord morphogenesis] GO:0045665[negative regulation of neuron differentiation] GO:0045746[negative regulation of Notch signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0050767[regulation of neurogenesis] 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:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070168[negative regulation of biomineral tissue development] GO:0072359[circulatory system development] GO:1990837[sequence-specific double-stranded DNA binding] 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]
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