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This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]
GET1 (Guided Entry Of Tail-Anchored Proteins Factor 1) is a Protein Coding gene. Diseases associated with GET1 include Vagus Nerve Disease and Heart Disease. An important paralog of this gene is RPS3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS | 9544840 |
GO:0005783 | endoplasmic reticulum | IBA | 21873635 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006620 | posttranslational protein targeting to endoplasmic reticulum membrane | IEA | -- |
GO:0007605 | sensory perception of sound | IEA | -- |
GO:0050808 | synapse organization | IEA | -- |
GO:0071599 | otic vesicle development | IEA | -- |
GO:0071816 | tail-anchored membrane protein insertion into ER membrane | IEA,IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Methylphenidate | Approved, Investigational | Pharma | 431 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WRB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WRB 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Wrb 30 31 |
|
OneToOne | |
Get1 17 |
|
||||
Dog (Canis familiaris) |
Mammalia | WRB 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wrb 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | WRB 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | WRB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WRB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WRB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wrb 30 |
|
||
Str.9044 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11476 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | wrb 30 31 |
|
OneToOne | |
wuft06h05 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1462 30 |
|
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35946782 | - | p.Val110Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4433n100 | CNV | gain | 25217958 |
esv3557716 | CNV | deletion | 23714750 |
nsv1061454 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vagus nerve disease |
|
|
heart disease |
|
|
esotropia |
|
|
down syndrome |
|
|
pylorospasm |
|
|