HEYL - hes related family bHLH transcription factor with YRPW motif like Gene

Homo sapiens

Also known as HEY3; HRT3; HESR3; bHLHb33

Gene ID: 26508 | Gene type: protein coding

About HEYL

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:39,623,435-39,639,643 (from NCBI)

This gene has 1 transcript (splice variant), 753 orthologues and 12 paralogues. Broad expression in testis (RPKM 14.5), placenta (RPKM 14.3) and 23 other tissues.

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]

HEYL Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables AF-1 domain binding	IPI IPI: Inferred from physical interaction	21454491	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	15485867	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21290414	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21454491	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15485867	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Notch signaling pathway	IDA IDA: Inferred from direct assay	10964718	GOA
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	21454491	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15485867	GOA
involved in negative regulation of androgen receptor signaling pathway	IDA IDA: Inferred from direct assay	21454491	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21290414	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	21454491	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEYL Protein Structure

HLH

Hairy_orange

0
100
200
300
328 a.a.

Protein Preferred Names

Protein Names

hairy/enhancer-of-split related with YRPW motif-like protein

HEY-like protein

HEYL Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HEYL	Q9NQ87	RPGRIP1	Homo sapiens	Q96KN7	Validated Y2H	25416956
Intra	HEYL	Q9NQ87	RPGRIP1	Homo sapiens	Q96KN7	Y2H Prey Pooling	25416956
Intra	HEYL	Q9NQ87	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
Intra	HEYL	Q9NQ87	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
Intra	HEYL	Q9NQ87	PLEKHB2	Homo sapiens	Q96CS7	Y2H Prey Pooling	32296183
Intra	HEYL	Q9NQ87	PLEKHB2	Homo sapiens	Q96CS7	Y2H Array	32296183
Intra	HEYL	Q9NQ87	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	HEYL	Q9NQ87	MDFI	Homo sapiens	Q99750	Y2H	21516116
Intra	HEYL	Q9NQ87	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	25416956
Intra	HEYL	Q9NQ87	MDFI	Homo sapiens	Q99750	Validated Y2H	25416956
Intra	HEYL	Q9NQ87	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	HEYL	Q9NQ87	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	HEYL	Q9NQ87	RBPMS	Homo sapiens	Q93062	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Corneal Argyrosis

Argentous Corneal Deposits	Argyrosis Of Cornea
Argentous Corneal Deposit

Deep Corneal Vascularisation

Deep Vascularization Of Cornea

Cerebellopontine Angle Meningioma

Meningioma Of The Cerebellar Pontine Angle

Aortic Valve Disease 1

Aortic Valve Disease	Bicuspid Aortic Valve
Aortic Valve Disorder	AOVD1
Bav	Bicuspid Aortic Valve Disease
Familial Bicuspid Aortic Valve	Aortic Valve Calcification
Aovd	Aortic Valve, Bicuspid
Aortic Valve, Calcification Of	Aortic Stenosis, Calcific
Familial Bav	Calcific Aortic Stenosis
Calcification Of Aortic Valve	Abnormality Of The Aortic Valve
Aortic Valve Disease, Type 1	Aortic Valve Disease 2
Bicommissural Aortic Valve

Hypopyon

Lateral Meningocele Syndrome

Lehman Syndrome	Lms
LMNS	Meningocele, Lateral Syndrome

Cerebellopontine Angle Tumor

Cerebellopontine Angle Tumour

Neoplasm Of The Cerebellopontine Angle

Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible	Cheney Syndrome
Arthrodentoosteodysplasia	HJCYS
Serpentine Fibula-Polycystic Kidney Syndrome	Sfpks
Acroosteolysis Dominant Type	Serpentine Fibula-Polycystic Kidneys Syndrome
Arthro-Dento-Osteo Dysplasia	Cranioskeletal Dysplasia With Acro-Osteolysis
Familial Osteodysplasia	Hereditary Osteodysplasia With Acro-Osteolysis
Hcs	Serpentine Fibula Syndrome
Acro-Osteolysis	Serpentine Fibula Polycystic Kidney Syndrome

Corneal Ulcer

Cornea Ulcer	Ulcerative Keratitis
Corneal Ulcer Nos

Keratopathy

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06148	HEYL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HEYL	VGNC	VGNC:80229
Macaca mulatta	HEYL	VGNC	VGNC:73370
Rattus norvegicus	HEYL	RGD	RGD:1305022
Bos taurus	HEYL	VGNC	VGNC:29830
Mus musculus	HEYL	MGD	MGI:1860511

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