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

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: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (39623435..39639643, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (39487908..39508063, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (40089107..40105315, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hypercoagulability evaluation in congenital red blood cell disorders using thrombin generation assay.
Title: Hypercoagulability evaluation in congenital red blood cell disorders using thrombin generation assay.
Notch3 regulates Mybl2 via HeyL to limit proliferation and tumor initiation in breast cancer.
Title: Notch3 regulates Mybl2 via HeyL to limit proliferation and tumor initiation in breast cancer.
Partial-Methylated HeyL Promoter Predicts the Severe Illness in Egyptian COVID-19 Patients.
Title: Partial-Methylated HeyL Promoter Predicts the Severe Illness in Egyptian COVID-19 Patients.
The NOTCH3 Downstream Target HEYL Is Required for Efficient Human Airway Basal Cell Differentiation.
Title: The NOTCH3 Downstream Target HEYL Is Required for Efficient Human Airway Basal Cell Differentiation.
Elevated HEYL expression is associated with metastatic colorectal cancer.
Title: The notch target gene HEYL modulates metastasis forming capacity of colorectal cancer patient-derived spheroid cells in vivo.
HEYL rs784621 AA genotype is associated with poor response to therapy in Non-small Cell Lung Cancer.
Title: Polymorphisms in Epithelial-Mesenchymal Transition-Related Genes and the Prognosis of Surgically Treated Non-small Cell Lung Cancer.
LSD1 directly associates with the promoter of the HEYL gene.
Title: LSD1 Mediates Neuronal Differentiation of Human Fetal Neural Stem Cells by Controlling the Expression of a Novel Target Gene, HEYL.
repression of TGFbeta signaling by Notch acting through HEYL may promote initiation of breast cancer
Title: The Notch pathway inhibits TGFβ signaling in breast cancer through HEYL-mediated crosstalk.
Repression of androgen receptor activity by HEYL, a third member of the Hairy/Enhancer-of-split-related family of Notch effectors.
Title: Repression of androgen receptor activity by HEYL, a third member of the Hairy/Enhancer-of-split-related family of Notch effectors.
In this study, we analyzed the effects of HESR1, -2, and -3 on DAT1 expression in human neuroblastoma SH-SY5Y cells
Title: Differential effects of the HESR/HEY transcription factor family on dopamine transporter reporter gene expression via variable number of tandem repeats.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92719 (e-PCR)
- UniSTS:85248

Heyl (e-PCR), detects polymorphism
- UniSTS:526858

D1S3560 (e-PCR)
- UniSTS:39692

SHGC-144470 (e-PCR)
- UniSTS:174252

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AF-1 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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 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
located_in 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

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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)

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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)

NM_014571.4 → NP_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:115 → 162

ORANGE; Orange domain

cd00083
Location:42 → 100

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:136 → 311

Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

39623435..39639643 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

smart00511
Location:87 → 134

ORANGE; Orange domain

cd00083
Location:14 → 72

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, ...