Format

Send to:

Choose Destination

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

Gene ID: 26508, updated on 13-Mar-2020

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
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

Genomic context

See HEYL in Genome Data Viewer
Location:
1p34.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (39623435..39639643, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40089103..40105348, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene bone morphogenetic protein 8a Neighboring gene peptidylprolyl isomerase E like pseudogene Neighboring gene PABPC4 antisense RNA 1 Neighboring gene poly(A) binding protein cytoplasmic 4 Neighboring gene small nucleolar RNA, H/ACA box 55 Neighboring gene Sharpr-MPRA regulatory region 4263 Neighboring gene 5'-nucleotidase, cytosolic IA

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

Homology

Clone Names

  • MGC12623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AF-1 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Notch signaling involved in heart development TAS
Traceable Author Statement
more info
PubMed 
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aortic valve morphogenesis TAS
Traceable Author Statement
more info
PubMed 
atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to BMP stimulus IEA
Inferred from Electronic Annotation
more info
 
circulatory system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition involved in endocardial cushion formation TAS
Traceable Author Statement
more info
PubMed 
glomerulus development IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of androgen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
proximal tubule development IEA
Inferred from Electronic Annotation
more info
 
pulmonary valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005270745.3XP_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, ...
Support Center