HEYL
Hairy/enhancer-of-split related with YRPW motif-like protein
Also known as: bHLHb33, HESR3, HEY3, HEYL_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NQ87
- Gene
- HEYL
- Ensembl
- ENSG00000163909
- Chromosome
- 1
- Canonical length
- 328 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoli fibrillar center
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
328 residues, UniProt reviewed canonical sequence.
>Q9NQ87|HEYL
1 MKRPKEPSGS DGESDGPIDV GQEGQLSQMA RPLSTPSSSQ MQARKKHRGI IEKRRRDRIN
61 SSLSELRRLV PTAFEKQGSS KLEKAEVLQM TVDHLKMLHA TGGTGFFDAR ALAVDFRSIG
121 FRECLTEVIR YLGVLEGPSS RADPVRIRLL SHLNSYAAEM EPSPTPTGPL AFPAWPWSFF
181 HSCPGLPALS NQLAILGRVP SPVLPGVSSP AYPIPALRTA PLRRATGIIL PARRNVLPSR
241 GASSTRRARP LERPATPVPV APSSRAARSS HIAPLLQSSS PTPPGPTGSA AYVAVPTPNS
301 SSPGPAGRPA GAMLYHSWVS EITEIGAFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HEYL 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)
- 0.62
- Highest tissue expression
- 81 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 81 nTPM
- pancreas: 66 nTPM
- heart muscle: 56 nTPM
- placenta: 28 nTPM
- endometrium: 26 nTPM
- smooth muscle: 23 nTPM
Single-cell type
- vascular smooth muscle cells: 182 nCPM
- pericytes: 147 nCPM
- peritubular myoid cells: 125 nCPM
- granulosa cells: 77 nCPM
- myosatellite cells: 72 nCPM
- leydig cells: 59 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 31 nTPM
- thalamus: 30 nTPM
- midbrain: 29 nTPM
- pons: 23 nTPM
- basal ganglia: 20 nTPM
- medulla oblongata: 19 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)
- 1.4
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.06
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- none
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
- anterior/posterior pattern specification
- aortic valve morphogenesis
- atrioventricular valve morphogenesis
- cardiac epithelial to mesenchymal transition
- cardiac ventricle morphogenesis
- cellular response to BMP stimulus
- endocardial cushion morphogenesis
- epithelial to mesenchymal transition involved in endocardial cushion formation
- glomerulus development
- mesenchymal cell development
- negative regulation of androgen receptor signaling pathway
- negative regulation of DNA-binding transcription factor activity
- negative regulation of DNA-templated transcription
- negative regulation of gene expression
- Notch signaling pathway
- outflow tract morphogenesis
- positive regulation of neuron differentiation
- positive regulation of transcription by RNA polymerase II
- proximal tubule development
- pulmonary valve morphogenesis
- regulation of neurogenesis
- regulation of transcription by RNA polymerase II
- skeletal muscle cell differentiation
- ventricular septum morphogenesis
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- AF-1 domain binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HEYL 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 HEYL as an antibody target. Whether an autoantibody or antibody against HEYL could matter depends on whether native HEYL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HEYL 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 HEYL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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