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RALGAPA1

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]

Full Name

Ral GTPase Activating Protein Catalytic Alpha Subunit 1

Function

Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.

Biological Process

Biological Process activation of GTPase activityISS:UniProtKB
Biological Process regulation of small GTPase mediated signal transductionIEA:InterPro

Cellular Location

Cytoplasm
Nucleus
Translocated to the nucleus, when associated with TCF3/E12.

Involvement in disease

Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT):
An autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale.

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Anti-RALGAPA1 antibodies

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Mouse Anti-RALGAPA1 Recombinant Antibody (CBLG1-2430) (CBMAB-G6528-LY)

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Target: RALGAPA1

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: CBLG1-2430

Application*: WB

Rabbit Anti-RALGAPA1 Recombinant Antibody (CBLG1-3099) (CBMAB-G6526-LY)

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Target: RALGAPA1

Host: Rabbit

Antibody Isotype: IgG

Specificity: Human

Clone: CBLG1-3099

Application*: WB

Mouse Anti-RALGAPA1 Recombinant Antibody (8C170) (CBMAB-G6525-LY)

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Target: RALGAPA1

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: 8C170

Application*: DB, WB

Mouse Anti-RALGAPA1 Recombinant Antibody (2382C1a) (CBMAB-G1171-LY)

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Target: RALGAPA1

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: 2382C1a

Application*: DB

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(P): Predicted

* Abbreviations

AActivation
AGAgonist
APApoptosis
BBlocking
BABioassay
BIBioimaging
CImmunohistochemistry-Frozen Sections
CIChromatin Immunoprecipitation
CTCytotoxicity
CSCostimulation
DDepletion
DBDot Blot

EELISA
ECELISA(Cap)
EDELISA(Det)
ESELISpot
EMElectron Microscopy
FFlow Cytometry
FNFunction Assay
GSGel Supershift
IInhibition
IAEnzyme Immunoassay
ICImmunocytochemistry
IDImmunodiffusion
IEImmunoelectrophoresis

IFImmunofluorescence
IGImmunochromatography
IHImmunohistochemistry
IMImmunomicroscopy
IOImmunoassay
IPImmunoprecipitation
ISIntracellular Staining for Flow Cytometry
LALuminex Assay
LFLateral Flow Immunoassay
MMicroarray
MCMass Cytometry/CyTOF
MDMeDIP

MSElectrophoretic Mobility Shift Assay
NNeutralization
PImmunohistologyp-Paraffin Sections
PAPeptide Array
PEPeptide ELISA
PLProximity Ligation Assay
RRadioimmunoassay
SStimulation
SESandwich ELISA
SHIn situ hybridization
TCTissue Culture
WBWestern Blot

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