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This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
RALGAPA1 (Ral GTPase Activating Protein Catalytic Subunit Alpha 1) is a Protein Coding gene. Diseases associated with RALGAPA1 include Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation and Newborn Respiratory Distress Syndrome. Among its related pathways are Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and GTPase activator activity. An important paralog of this gene is RALGAPA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IBA,ISS | -- |
GO:0046982 | protein heterodimerization activity | IPI | 19520869 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | IBA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrated Breast Cancer Pathway |
Symbol | External ID(s) | Details |
---|---|---|
AGAP2 | ||
DUSP23 | ||
ENSG00000272822 | ||
GFOD1 | ||
MAPK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
GO:0051056 | regulation of small GTPase mediated signal transduction | IEA | -- |
GO:0090630 | activation of GTPase activity | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
RBC8 | Pharma | 0 |
Compound | Action | Cas Number |
---|---|---|
RBC8 | 361185-42-4 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RALGAPA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GARNL1 31 |
|
OneToOne | |
RALGAPA1 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Ralgapa1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RALGAPA1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ralgapa1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RALGAPA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RALGAPA1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | ralgapa1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5521 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004143 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y18H1A.3 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691794 | Pathogenic: Generalized hypotonia; Respiratory distress; Feeding difficulties; Infantile spasms; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | 35,748,710(-) | G/A | NONSENSE | |
691795 | Pathogenic: Generalized hypotonia; Respiratory distress; Feeding difficulties; Infantile spasms; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | 35,627,436(-) | TA/T | FRAMESHIFT_VARIANT | |
691796 | Pathogenic: Generalized hypotonia; Respiratory distress; Feeding difficulties; Infantile spasms; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | 35,756,846(-) | C/A | NONSENSE | |
691797 | Pathogenic: Generalized hypotonia; Respiratory distress; Feeding difficulties; Infantile spasms; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | 35,572,678(-) | G/C | NONSENSE | |
691798 | Pathogenic: Generalized hypotonia; Respiratory distress; Feeding difficulties; Infantile spasms; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | 35,674,589(-) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2549342 | CNV | deletion | 19546169 |
esv3307851 | CNV | mobile element insertion | 20981092 |
esv3338357 | CNV | insertion | 20981092 |
esv3634063 | CNV | loss | 21293372 |
esv3634066 | CNV | loss | 21293372 |
nsv1241 | CNV | insertion | 18451855 |
nsv456206 | CNV | loss | 19166990 |
nsv507742 | OTHER | sequence alteration | 20534489 |
nsv525294 | CNV | loss | 19592680 |
nsv564341 | CNV | loss | 21841781 |
nsv564342 | CNV | loss | 21841781 |
nsv564343 | CNV | loss | 21841781 |
nsv976331 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation |
|
|
newborn respiratory distress syndrome |
|
|
west syndrome |
|
|
holoprosencephaly 8 |
|
|
retinitis pigmentosa 42 |
|
|