HEY1
Hairy/enhancer-of-split related with YRPW motif protein 1
Also known as: bHLHb31, CHF-2, CHF2, HERP2, HESR-1, HESR1, HEY1_HUMAN, HRT-1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5J3
- Gene
- HEY1
- Ensembl
- ENSG00000164683
- Chromosome
- 8
- Canonical length
- 304 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins, Transcription factors, Transporters
- Subcellular location
- Nucleoplasm,Nuclear membrane,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
304 residues, UniProt reviewed canonical sequence.
>Q9Y5J3|HEY1
1 MKRAHPEYSS SDSELDETIE VEKESADENG NLSSALGSMS PTTSSQILAR KRRRGIIEKR
61 RRDRINNSLS ELRRLVPSAF EKQGSAKLEK AEILQMTVDH LKMLHTAGGK GYFDAHALAM
121 DYRSLGFREC LAEVARYLSI IEGLDASDPL RVRLVSHLNN YASQREAASG AHAGLGHIPW
181 GTVFGHHPHI AHPLLLPQNG HGNAGTTASP TEPHHQGRLG SAHPEAPALR APPSGSLGPV
241 LPVVTSASKL SPPLLSSVAS LSAFPFSFGS FHLLSPNALS PSAPTQAANL GKPYRPWGTE
301 IGAFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HEY1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 48 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 48 nTPM
- basal ganglia: 33 nTPM
- amygdala: 23 nTPM
- midbrain: 21 nTPM
- hypothalamus: 20 nTPM
- hippocampal formation: 19 nTPM
Single-cell type
- extravillous trophoblasts: 160 nCPM
- pituitary stem cells: 79 nCPM
- respiratory secretory cells: 72 nCPM
- vascular endothelial cells: 51 nCPM
- conjunctival goblet cells: 51 nCPM
- mast cells: 45 nCPM
Immune cell
- neutrophil: 6.9 nTPM
- non-classical monocyte: 1.3 nTPM
- intermediate monocyte: 0.3 nTPM
- memory CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- basal ganglia: 33 nTPM
- hypothalamus: 32 nTPM
- midbrain: 29 nTPM
- thalamus: 28 nTPM
- pons: 26 nTPM
- cerebellum: 26 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0.05
- gnomAD missense Z
- 0.5
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- anterior/posterior pattern specification
- aortic valve morphogenesis
- arterial endothelial cell differentiation
- atrioventricular valve formation
- cardiac conduction system development
- cardiac epithelial to mesenchymal transition
- cardiac septum morphogenesis
- cardiac ventricle morphogenesis
- circulatory system development
- dorsal aorta morphogenesis
- endocardial cushion morphogenesis
- heart trabecula formation
- labyrinthine layer blood vessel development
- negative regulation of biomineral tissue development
- negative regulation of DNA-templated transcription
- negative regulation of neuron differentiation
- negative regulation of Notch signaling pathway
- negative regulation of smooth muscle cell differentiation
- negative regulation of transcription by RNA polymerase II
- Notch signaling pathway
- positive regulation of transcription by RNA polymerase II
- pulmonary valve morphogenesis
- regulation of neurogenesis
- regulation of transcription by RNA polymerase II
- regulation of vasculogenesis
- umbilical cord morphogenesis
- ventricular septum morphogenesis
Molecular functions
- cis-regulatory region sequence-specific DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HEY1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HEY1 as an antibody target. Whether an autoantibody or antibody against HEY1 could matter depends on whether native HEY1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HEY1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HEY1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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