Catalog No.
YHG99201
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met646-Asp756
Predicted molecular weight
14.84 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q15042
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Rab3 GTPase-activating protein catalytic subunit, RAB3 GTPase-activating protein 130 kDa subunit, Rab3-GAP p130, Rab3-GAP, RAB3GAP1, KIAA0066, RAB3GAP
The Rab3 GTPase cycle modulates cardiomyocyte exocytosis and atrial natriuretic peptide release., PMID:40119520
Rab3gap1 palmitoylation cycling modulates cardiomyocyte exocytosis and atrial natriuretic peptide release., PMID:39953729
Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity., PMID:39779760
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis., PMID:37774976
Bioinformatics analysis to screen the key genes in pediatric Chronic Active Epstein-Barr Virus Infection., PMID:37715397
The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors., PMID:37385458
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family., PMID:37186309
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome., PMID:36876345
Identification of immune- and autophagy-related genes and effective diagnostic biomarkers in endometriosis: a bioinformatics analysis., PMID:36660690
Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome., PMID:36553631
Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome., PMID:35196747
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients., PMID:35174982
Global effects of RAB3GAP1 dysexpression on the proteome of mouse cortical neurons., PMID:34363538
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy., PMID:34130600
From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients., PMID:33951304
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report., PMID:33910511
A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report., PMID:33466118
[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]., PMID:33306828
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights., PMID:32740904
Clinical exome sequencing identified POLB c.C1002A as a possible genetic cause in a family with hereditary cancer-predisposing syndrome., PMID:32622089
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping., PMID:32599602
A tumor-specific modulation of heterogeneous ribonucleoprotein A0 promotes excessive mitosis and growth in colorectal cancer cells., PMID:32303675
The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I., PMID:32248620
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran., PMID:32162791
Novel somatic alterations underlie Chinese papillary thyroid carcinoma., PMID:32065787
RAB18 Loss Interferes With Lipid Droplet Catabolism and Provokes Autophagy Network Adaptations., PMID:31874152
Proteomics in Schizophrenia: A Gateway to Discover Potential Biomarkers of Psychoneuroimmune Pathways., PMID:31849731
RAB18 modulates autophagy in human stellate cells., PMID:31563421
The RBG-1-RBG-2 complex modulates autophagy activity by regulating lysosomal biogenesis and function in C. elegans., PMID:31444285
Estrogen enhances human osteoblast survival and function via promotion of autophagy., PMID:31255720
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy., PMID:30856165
Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes., PMID:30730599
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent., PMID:29924831
A genome-wide association study of red-blood cell fatty acids and ratios incorporating dietary covariates: Framingham Heart Study Offspring Cohort., PMID:29652918
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?, PMID:29419336
Rab18 promotes lipid droplet (LD) growth by tethering the ER to LDs through SNARE and NRZ interactions., PMID:29367353
Gene screening facilitates diagnosis of complicated symptoms: A case report., PMID:28944914
Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission., PMID:28677370
FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25., PMID:28575017
The RAB GTPase RAB18 modulates macroautophagy and proteostasis., PMID:28342870
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model., PMID:27512948
Mutant Huntingtin Impairs BDNF Release from Astrocytes by Disrupting Conversion of Rab3a-GTP into Rab3a-GDP., PMID:27559163
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease., PMID:27256633
Multiple Types of Guanine Nucleotide Exchange Factors (GEFs) for Rab Small GTPases., PMID:27246931
A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration., PMID:26968732
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION., PMID:26852512
Extensive Admixture and Selective Pressure Across the Sahel Belt., PMID:26614524
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs., PMID:26607784
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)., PMID:26596647
For research use only. Not for human or drug use.
