HEY1 hes related family bHLH transcription factor with YRPW motif 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HEY1provided by HGNC
Official Full Name: hes related family bHLH transcription factor with YRPW motif 1provided by HGNC
Primary source: HGNC:HGNC:4880
See related: Ensembl:ENSG00000164683 MIM:602953; AllianceGenome:HGNC:4880
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: CHF2; OAF1; HERP2; HESR1; HRT-1; NERP2; hHRT1; BHLHb31
Summary: This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 32.0), lung (RPKM 10.8) and 9 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8q21.13

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (79764010..79767767, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (80195346..80199104, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (80676245..80680002, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SUMOylation Fine-Tunes Endothelial HEY1 in the Regulation of Angiogenesis.
Title: SUMOylation Fine-Tunes Endothelial HEY1 in the Regulation of Angiogenesis.
HEY1-mediated cisplatin resistance in lung adenocarcinoma via epithelial-mesenchymal transition.
Title: HEY1-mediated cisplatin resistance in lung adenocarcinoma via epithelial-mesenchymal transition.
LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by regulating ACY1 via interacting with transcription factor HEY1 in clear cell renal cell carcinoma.
Title: LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by regulating ACY1 via interacting with transcription factor HEY1 in clear cell renal cell carcinoma.
Reciprocal activation of HEY1 and NOTCH4 under SOX2 control promotes EMT in head and neck squamous cell carcinoma.
Title: Reciprocal activation of HEY1 and NOTCH4 under SOX2 control promotes EMT in head and neck squamous cell carcinoma.
Long noncoding RNA LINC00982 upregulates CTSF expression to inhibit gastric cancer progression via the transcription factor HEY1.
Title: Long noncoding RNA LINC00982 upregulates CTSF expression to inhibit gastric cancer progression via the transcription factor HEY1.
TWIST1 correlates with Notch signaling pathway to develop esophageal squamous cell carcinoma.
Title: TWIST1 correlates with Notch signaling pathway to develop esophageal squamous cell carcinoma.
IMPAD1 functions as mitochondrial electron transport inhibitor that prevents ROS production and promotes lung cancer metastasis through the AMPK-Notch1-HEY1 pathway.
Title: IMPAD1 functions as mitochondrial electron transport inhibitor that prevents ROS production and promotes lung cancer metastasis through the AMPK-Notch1-HEY1 pathway.
CAFs-derived MFAP5 promotes bladder cancer malignant behavior through NOTCH2/HEY1 signaling.
Title: CAFs-derived MFAP5 promotes bladder cancer malignant behavior through NOTCH2/HEY1 signaling.
findings suggest both NOTCH1-dependent and -independent HEY1 regulation, and imply a previously unrecognized prognostic role for HEY1 in HNSCC
Title: HEY1 is expressed independent of NOTCH1 and is associated with poor prognosis in head and neck squamous cell carcinoma.
Case Report:minute mesenchymal chondrosarcoma within an osteochondroma with HEY1-NCOA2 fusion.
Title: Minute mesenchymal chondrosarcoma within osteochondroma: an unexpected diagnosis confirmed by HEY1-NCOA2 fusion.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH12790 (e-PCR)
- UniSTS:30543

HEY1_2154 (e-PCR)
- UniSTS:280750

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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	ISS Inferred from Sequence or Structural Similarity more info
involved_in angiogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in arterial endothelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrioventricular valve formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac conduction system development	NAS Non-traceable Author Statement more info	PubMed
involved_in cardiac epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac septum morphogenesis	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 circulatory system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in dorsal aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in labyrinthine layer blood vessel development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of biomineral tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of smooth muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity 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 regulation of vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in umbilical cord morphogenesis	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: hairy/enhancer-of-split related with YRPW motif protein 1

Names: HES-related repressor protein 1; HES-related repressor protein 2; basic helix-loop-helix protein OAF1; cardiovascular helix-loop-helix factor 2; class B basic helix-loop-helix protein 31; hairy and enhancer of split-related protein 1; hairy-related transcription factor 1; hairy/enhancer-of-split related with YRPW motif 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

NM_001040708.2 → NP_001035798.1 hairy/enhancer-of-split related with YRPW motif protein 1 isoform b

See identical proteins and their annotated locations for NP_001035798.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as HESR1-12nt, uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a longer protein (isoform b).

Source sequence(s)

AF232239, BC001873, BP283540

Consensus CDS

CCDS43749.1

UniProtKB/TrEMBL

B3KQB8, Q96PR6

Related

ENSP00000338272.5, ENST00000337919.9

Conserved Domains (2) summary

smart00511
Location:124 → 170

ORANGE; Orange domain

cl00081
Location:41 → 126

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
NM_001282851.2 → NP_001269780.1 hairy/enhancer-of-split related with YRPW motif protein 1 isoform c

See identical proteins and their annotated locations for NP_001269780.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' structure which results in the use of a downstream start codon compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AF151522, AK293646, R61374

UniProtKB/TrEMBL

B4DEI9

Related

ENST00000435063.4

Conserved Domains (1) summary

smart00511
Location:30 → 76

ORANGE; Orange domain
NM_012258.4 → NP_036390.3 hairy/enhancer-of-split related with YRPW motif protein 1 isoform a

See identical proteins and their annotated locations for NP_036390.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (a).

Source sequence(s)

AF232239, BC001873, DA561783

Consensus CDS

CCDS6225.1

UniProtKB/Swiss-Prot

B2R883, Q5TZS3, Q8NAM2, Q9NYP4, Q9Y5J3

UniProtKB/TrEMBL

B3KQB8, Q96PR6

Related

ENSP00000346761.3, ENST00000354724.8

Conserved Domains (2) summary

smart00511
Location:120 → 166

ORANGE; Orange domain

cl00081
Location:41 → 122

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily