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Aliases for HEYL Gene

Aliases for HEYL Gene

  • Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like 2 3
  • Hairy/Enhancer-Of-Split Related With YRPW Motif 3 2 3
  • Class B Basic Helix-Loop-Helix Protein 33 3 4
  • Hairy-Related Transcription Factor 3 3 4
  • BHLHb33 3 4
  • HRT-3 3 4
  • HHRT3 3 4
  • HHeyL 3 4
  • HRT3 3 4
  • Hairy/Enhancer-Of-Split Related With YRPW Motif-Like Protein 3
  • Hairy/Enhancer-Of-Split Related With YRPW Motif-Like 2
  • HEY-Like Protein 3
  • HESR3 3
  • HEY3 3

External Ids for HEYL Gene

Previous GeneCards Identifiers for HEYL Gene

  • GC01M040119
  • GC01M039093
  • GC01M039553
  • GC01M039503
  • GC01M039492
  • GC01M039741
  • GC01M039862
  • GC01M038207

Summaries for HEYL Gene

Entrez Gene Summary for HEYL 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]

GeneCards Summary for HEYL Gene

HEYL (Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HELT.

UniProtKB/Swiss-Prot for HEYL Gene

  • Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.

Gene Wiki entry for HEYL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEYL Gene

Genomics for HEYL Gene

Regulatory Elements for HEYL Gene

Genomic Location for HEYL Gene

Start:
39,623,431 bp from pter
End:
39,639,945 bp from pter
Size:
16,515 bases
Orientation:
Minus strand

Genomic View for HEYL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEYL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEYL Gene

Proteins for HEYL Gene

  • Protein details for HEYL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ87-HEYL_HUMAN
    Recommended name:
    Hairy/enhancer-of-split related with YRPW motif-like protein
    Protein Accession:
    Q9NQ87
    Secondary Accessions:
    • Q5TG99

    Protein attributes for HEYL Gene

    Size:
    328 amino acids
    Molecular mass:
    35087 Da
    Quaternary structure:
    • Self-associates. Interacts with GATA4, GATA6, HES1, HEY1 and HEY2. Interacts with HDAC1, NCOR1 and SIN3A.

neXtProt entry for HEYL Gene

Proteomics data for HEYL Gene at MOPED

Post-translational modifications for HEYL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEYL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HEYL Gene

Domains for HEYL Gene

Gene Families for HEYL Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for HEYL Gene

Suggested Antigen Peptide Sequences for HEYL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQ87

UniProtKB/Swiss-Prot:

HEYL_HUMAN :
  • Q9NQ87
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
Family:
  • Belongs to the HEY family.
genes like me logo Genes that share domains with HEYL: view

Function for HEYL Gene

Molecular function for HEYL Gene

UniProtKB/Swiss-Prot Function: Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.
UniProtKB/Swiss-Prot Induction: By activation of the Notch signaling pathway.

Gene Ontology (GO) - Molecular Function for HEYL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity ISS --
GO:0000988 protein binding transcription factor activity IDA 21290414
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001106 RNA polymerase II transcription corepressor activity IEA --
genes like me logo Genes that share ontologies with HEYL: view
genes like me logo Genes that share phenotypes with HEYL: view

Animal Models for HEYL Gene

MGI Knock Outs for HEYL:

miRNA for HEYL Gene

miRTarBase miRNAs that target HEYL

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HEYL Gene

Localization for HEYL Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEYL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEYL Gene COMPARTMENTS Subcellular localization image for HEYL gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for HEYL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21454491
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with HEYL: view

Pathways for HEYL Gene

genes like me logo Genes that share pathways with HEYL: view

Gene Ontology (GO) - Biological Process for HEYL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter --
GO:0003151 outflow tract morphogenesis ISS --
GO:0003181 atrioventricular valve morphogenesis ISS --
GO:0003184 pulmonary valve morphogenesis ISS --
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation ISS --
genes like me logo Genes that share ontologies with HEYL: view

Transcripts for HEYL Gene

mRNA/cDNA for HEYL Gene

Unigene Clusters for HEYL Gene

Hairy/enhancer-of-split related with YRPW motif-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEYL Gene

No ASD Table

Relevant External Links for HEYL Gene

GeneLoc Exon Structure for
HEYL
ECgene alternative splicing isoforms for
HEYL

Expression for HEYL Gene

mRNA expression in normal human tissues for HEYL Gene

mRNA differential expression in normal tissues according to GTEx for HEYL Gene

This gene is overexpressed in Artery - Coronary (6.7), Artery - Tibial (4.2), and Pancreas (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HEYL Gene

SOURCE GeneReport for Unigene cluster for HEYL Gene Hs.472566

genes like me logo Genes that share expressions with HEYL: view

No data available for mRNA Expression by UniProt/SwissProt for HEYL Gene

Orthologs for HEYL Gene

This gene was present in the common ancestor of animals.

Orthologs for HEYL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEYL 35
  • 99.39 (n)
  • 99.09 (a)
HEYL 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEYL 35
  • 86.89 (n)
  • 87.8 (a)
HEYL 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEYL 35
  • 88.45 (n)
  • 88.04 (a)
mouse
(Mus musculus)
Mammalia Heyl 35
  • 82 (n)
  • 78.53 (a)
Heyl 16
Heyl 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEYL 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEYL 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Heyl 35
  • 81.95 (n)
  • 80.92 (a)
chicken
(Gallus gallus)
Aves HEYL 35
  • 66.88 (n)
  • 63.55 (a)
HEYL 36
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii heyl 35
  • 59.13 (n)
  • 58.7 (a)
heyl 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hey 36
  • 26 (a)
OneToMany
Hey 37
  • 57 (a)
Species with no ortholog for HEYL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEYL Gene

ENSEMBL:
Gene Tree for HEYL (if available)
TreeFam:
Gene Tree for HEYL (if available)

Paralogs for HEYL Gene

Paralogs for HEYL Gene

Selected SIMAP similar genes for HEYL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HEYL: view

Variants for HEYL Gene

Sequence variations from dbSNP and Humsavar for HEYL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs6587 -- 39,624,273(-) GATTC(C/T)GTGGT utr-variant-3-prime
rs784621 -- 39,641,113(-) GCATA(A/G)CACAT upstream-variant-2KB
rs784622 -- 39,639,142(+) GAAAG(A/G)ATGGG intron-variant
rs784623 -- 39,638,789(-) TGGAA(A/G)TATTG intron-variant
rs784624 -- 39,638,046(-) GGGCA(C/T)AGCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HEYL Gene

Variant ID Type Subtype PubMed ID
nsv7177 OTHER Inversion 18451855
nsv829649 CNV Loss 17160897
nsv566 CNV Insertion 18451855

Relevant External Links for HEYL Gene

HapMap Linkage Disequilibrium report
HEYL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEYL Gene

Disorders for HEYL Gene

(1) University of Copenhagen DISEASES for HEYL Gene

genes like me logo Genes that share disorders with HEYL: view

No data available for UniProtKB/Swiss-Prot for HEYL Gene

Publications for HEYL Gene

  1. Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family. (PMID: 10860664) Steidl C. … Gessler M. (Genomics 2000) 2 3 4 23
  2. Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. (PMID: 10415358) Leimeister C. … Gessler M. (Mech. Dev. 1999) 2 3
  3. Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes. (PMID: 10964718) Maier M.M. … Gessler M. (Biochem. Biophys. Res. Commun. 2000) 3 4
  4. Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling. (PMID: 11095750) Nakagawa O. … Olson E.N. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  5. Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism. (PMID: 15485867) Kathiriya I.S. … Nakagawa O. (J. Biol. Chem. 2004) 3 4

Products for HEYL Gene

Sources for HEYL Gene

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