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

Also Known as HEY3; HRT3; HESR3; bHLHb33

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26508

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 References 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 References 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 References 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

HLH: Helix-loop-helix DNA-binding domain (45 - 98)

Hairy_orange

Hairy_orange: Hairy Orange (117 - 160)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06148 HEYL Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22200 Heyl Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28722 Heyl Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others HEYL NCBI