HEY1 (hes related family bHLH transcription factor with YRPW motif 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23462
Gene name Hes related family bHLH transcription factor with YRPW motif 1
Gene symbol HEY1
Synonyms (NCBI Gene)
BHLHb31CHF2HERP2HESR1HRT-1NERP2OAF1hHRT1
Chromosome 8
Chromosome location 8q21.13
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
miRNA miRNA information provided by mirtarbase database.
15
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT017049 hsa-miR-335-5p Microarray 18185580
MIRT019763 hsa-miR-375 Microarray 20215506
MIRT046126 hsa-miR-30b-5p CLASH 23622248
MIRT1044795 hsa-miR-1207-3p CLIP-seq
MIRT1044796 hsa-miR-132 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
Transcription factor Regulation Reference
DUX4 Activation 24278031
JUN Activation 15314183
MAML1 Repression 18503747
MSX1 Activation 18201699
NR2F2 Unknown 23345397
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (57)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 16043483, 18239137, 21290414
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 11486045
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602953 4880 ENSG00000164683
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5J3
Protein name Hairy/enhancer-of-split related with YRPW motif protein 1 (Cardiovascular helix-loop-helix factor 2) (CHF-2) (Class B basic helix-loop-helix protein 31) (bHLHb31) (HES-related repressor protein 1) (Hairy and enhancer of split-related protein 1) (HESR-1) (
Protein function Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (PubMed:11095750). Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endo
PDB 2DB7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 50 → 105 Helix-loop-helix DNA-binding domain Domain
PF07527 Hairy_orange 121 → 163 Hairy Orange Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the somitic mesoderm, the central nervous system, the kidney, the heart, nasal epithelium, and limbs.
Sequence 
MKRAHPEYSSSDSELDETIEVEKESADENGNLSSALGSMSPTTSSQILARKRRRGIIEKR
RRDRINNSLSELRRLVPSAFEKQGSAKLEKAEILQMTVDHLKMLHTAGGKGYFDAHALAM
DYRSLGFRECLAEVARYLSIIEGLDASDPLRVRLVSHLNNYASQREAASGAHAGLGHIPW
GTVFGHHPHIAHPLLLPQNGHGNAGTTASPTEPHHQGRLGSAHPEAPALRAPPSGSLGPV
LPVVTSASKLSPPLLSSVASLSAFPFSFGSFHLLSPNALSPSAPTQAANLGKPYRPWGTE
IGAF
Sequence length 304
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Notch signaling pathway
Human papillomavirus infection
Pathways in cancer
Breast cancer 		  Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH4 Intracellular Domain Regulates Transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (121)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16360140
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 19479935
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma CTD_human_DG 21127729
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 23733015
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma CTD_human_DG 21127729
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic Oligodendroglioma Anaplastic Oligodendroglioma CTD_human_DG 21127729
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Arch Syndromes Aortic arch syndrome Pubtator 34549899 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 21454491
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma CTD_human_DG 21127729
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 20868653
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations