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This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]
HES1 (Hes Family BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with HES1 include Medulloblastoma and T-Cell Lymphoblastic Leukemia/Lymphoma. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Notch-mediated HES/HEY network. 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 HES4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,IBA | 21873635 |
GO:0001085 | RNA polymerase II transcription factor binding | IEA,ISS | -- |
GO:0001217 | bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding | IEA | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0032991 | protein-containing complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | Regulation of beta-cell development | ||
4 | HIV Life Cycle |
.45
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5 | NOTCH2 Activation and Transmission of Signal to the Nucleus |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IDA | 12032823 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001889 | liver development | IEA | -- |
GO:0003143 | embryonic heart tube morphogenesis | IEA,ISS | -- |
GO:0003151 | outflow tract morphogenesis | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HES1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HES1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hes1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hes1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HES1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HES1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHAIRY-1 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hes1 30 |
|
||
Str.10866 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397813 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | her6 30 |
|
||
her9 31 |
|
ManyToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.686 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | h 31 |
|
ManyToMany | |
dpn 31 |
|
ManyToMany | |||
Side 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs141702996 | Likely Benign: not provided | 194,138,167(+) |
C/T NM_005524.4(HES1):c.777C>T (p.Asn259=) |
SYNONYMOUS | |
rs148500265 | Benign: not provided | 194,137,678(+) |
C/T NM_005524.4(HES1):c.293-5C>T |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
medulloblastoma |
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t-cell lymphoblastic leukemia/lymphoma |
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|
breast cancer |
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|
maturity-onset diabetes of the young |
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|
3-methylglutaconic aciduria, type iii |
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