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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 (Hes Related Family BHLH Transcription Factor With YRPW Motif Like) is a Protein Coding gene. Diseases associated with HEYL include Deep Corneal Vascularisation and Cerebellopontine Angle Meningioma. Among its related pathways are Signaling by GPCR and Signaling by NOTCH1. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HEY2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA,ISS | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 21454491 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | HIV Life Cycle |
.45
|
|
3 | Gastric cancer |
.62
|
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4 | PI3K-Akt signaling pathway | ||
5 | Notch Signaling Pathway (WikiPathways) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0003151 | outflow tract morphogenesis | IEA,ISS | -- |
GO:0003180 | aortic valve morphogenesis | TAS | 20951801 |
GO:0003181 | atrioventricular valve morphogenesis | IEA,ISS | -- |
GO:0003184 | pulmonary valve morphogenesis | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HEYL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HEYL 30 |
|
||
Cow (Bos Taurus) |
Mammalia | HEYL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Heyl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Heyl 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HEYL 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HEYL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HEYL 30 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | heyl 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Hey 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs784625 | - | p.His47Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3367103 | CNV | duplication | 20981092 |
nsv1116447 | OTHER | inversion | 24896259 |
nsv566 | CNV | insertion | 18451855 |
nsv7177 | OTHER | inversion | 18451855 |
nsv829649 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deep corneal vascularisation |
|
|
cerebellopontine angle meningioma |
|
|
anterior dislocation of lens |
|
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cataract 40 |
|
|
aortic valve disease 1 |
|
|