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    HEYL hes related family bHLH transcription factor with YRPW motif like [ Homo sapiens (human) ]

    Gene ID: 26508, updated on 17-Jun-2024

    Summary

    Official Symbol
    HEYLprovided by HGNC
    Official Full Name
    hes related family bHLH transcription factor with YRPW motif likeprovided by HGNC
    Primary source
    HGNC:HGNC:4882
    See related
    Ensembl:ENSG00000163909 MIM:609034; AllianceGenome:HGNC:4882
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEY3; HRT3; HESR3; bHLHb33
    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]
    Expression
    Broad expression in testis (RPKM 14.5), placenta (RPKM 14.3) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HEYL in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39623435..39639643, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (39487908..39508063, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40089107..40105315, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene bone morphogenetic protein 8a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39988287-39988788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39988789-39989288 Neighboring gene peptidylprolyl isomerase E like (pseudogene) Neighboring gene PABPC4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40036267-40036768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40036769-40037268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 703 Neighboring gene poly(A) binding protein cytoplasmic 4 Neighboring gene small nucleolar RNA, H/ACA box 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7951 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7954 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 708 Neighboring gene Sharpr-MPRA regulatory region 4263 Neighboring gene 5'-nucleotidase, cytosolic IA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 709 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:40155381-40155607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 710 Neighboring gene hippocalcin like 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC12623

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Notch signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in aortic valve morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to BMP stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circulatory system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial to mesenchymal transition involved in endocardial cushion formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glomerulus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of androgen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proximal tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    hairy/enhancer-of-split related with YRPW motif-like protein
    Names
    HEY-like protein
    HRT-3
    class B basic helix-loop-helix protein 33
    hHRT3
    hHeyL
    hairy-related transcription factor 3
    hairy/enhancer-of-split related with YRPW motif 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014571.4NP_055386.2  hairy/enhancer-of-split related with YRPW motif-like protein

      Status: REVIEWED

      Source sequence(s)
      AL035404
      Consensus CDS
      CCDS439.1
      UniProtKB/Swiss-Prot
      Q5TG99, Q9NQ87
      Related
      ENSP00000361943.3, ENST00000372852.4
      Conserved Domains (3) summary
      smart00511
      Location:115162
      ORANGE; Orange domain
      cd00083
      Location:42100
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      cl26464
      Location:136311
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      39623435..39639643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270745.4XP_005270802.1  hairy/enhancer-of-split related with YRPW motif-like protein isoform X1

      Conserved Domains (2) summary
      smart00511
      Location:87134
      ORANGE; Orange domain
      cd00083
      Location:1472
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      39487908..39508063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335968.1XP_054191943.1  hairy/enhancer-of-split related with YRPW motif-like protein isoform X1

      UniProtKB/TrEMBL
      B4DU20

    RNA

    1. XR_008485991.1 RNA Sequence