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This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
BHLHE41 (Basic Helix-Loop-Helix Family Member E41) is a Protein Coding gene. Diseases associated with BHLHE41 include Short Sleep, Familial Natural, 1 and Advanced Sleep Phase Syndrome, Familial, 1. Among its related pathways are HIF-1-alpha transcription factor network and Circadian rhythm. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is BHLHE40.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS | -- |
GO:0001102 | RNA polymerase II activating transcription factor binding | ISS | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | ISS | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Circadian rhythm |
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Circadian Clock in Mammals
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2 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
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3 | Th2 Differentiation Pathway | ||
4 | Circadian rythm related genes | ||
5 | HIF-1-alpha transcription factor network |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 14672706 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007623 | circadian rhythm | IEA | -- |
GO:0009952 | anterior/posterior pattern specification | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BHLHE41 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bhlhe41 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BHLHE41 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BHLHE41 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BHLHE41 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BHLHE41 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | bhlhe41 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs121912617 | Affects: Short sleep, familial natural, 1. -. - | 26,122,364(-) |
G/Cp.Pro384Argp.Pro384Gln NM_030762.3(BHLHE41):c.1151C>G (p.Pro384Arg) |
MISSENSE | |
rs1591838266 | Affects: Short sleep, familial natural, 1 | 26,122,431(-) |
A/G NM_030762.3(BHLHE41):c.1084T>C (p.Tyr362His) |
MISSENSE | |
rs776094709 | Likely Benign: not provided | 26,122,435(-) |
G/C NM_030762.3(BHLHE41):c.1080C>G (p.Ala360=) |
SYNONYMOUS | |
VAR_082585 | - |
p.Tyr362His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3581126 | CNV | gain | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
short sleep, familial natural, 1 |
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advanced sleep phase syndrome, familial, 1 |
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advanced sleep phase syndrome |
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febrile seizures, familial, 5 |
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sleep disorder |
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