Disease relevance of RAB3GAP2

• We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome) [1].
• A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD) [2].
• RESULTS: A significant association of p150 with the grade of atypia in cervical neoplasms was demonstrated [3].
• CONCLUSIONS: p150 is a molecular parameter that might become useful in predicting disease progression and determining the prognoses of patients with invasive cervical carcinoma [3].
• Those with regional lymph node metastasis and significant p150 expression had longer relapse free survival than those with insignificant p150 expression [3].

High impact information on RAB3GAP2

• PCNA binds directly to p150, the largest subunit of CAF-1, and the two proteins colocalize at sites of DNA replication in cells [4].
• In vitro, the head domains of CLIP-170 and of p150 Glued bind more efficiently to tyrosinated microtubules than to detyrosinated polymers [5].
• Here, we show that fasciata1-4 (fas1-4), a new allele of the Arabidopsis fas1 mutant defective in the p150 subunit of CAF-1, has a severe developmental phenotype, reduced heterochromatin content, and a more open conformation of euchromatin [6].
• RAB3GAP is a heterodimeric protein that consists of a catalytic subunit and a noncatalytic subunit encoded by RAB3GAP1 and RAB3GAP2, respectively [1].
• TPA has an identical effect on the phosphorylation of p150 in cells resistant to drug [7].

Chemical compound and disease context of RAB3GAP2

• METHODS: To investigate whether the expression of p150 correlated with the clinicopathologic stages of cervical neoplasms or the prognoses of patients with these neoplasms, the authors conducted an immunohistochemical study of archival formalin fixed, paraffin embedded specimens [3].

Biological context of RAB3GAP2

• It is proposed that p150 acts in iron uptake other than by receptor-mediated endocytosis and that its induction permits the cells to overcome a possible limitation in iron availability under high salinities [8].
• We used transient transfection assays and in vitro microtubule-binding assays to demonstrate that the p150 isoform binds to microtubules, but the p135 isoform does not [9].
• A rare patient autoimmune serum (MaS serum) has recently been identified that specifically immunoprecipitates U4/U6 snRNP from HeLa cell extracts through recognition of a 150 kDa autoantigen (p150) (Okano and Medsger, Journal of Immunology, 146, 535-542, 1991) [10].
• Five of the ten LpCBF genes were assigned to the genetic linkage map using the p150/112 reference mapping population [11].
• Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS [12].

Anatomical context of RAB3GAP2

• We performed messenger RNA-expression studies of RAB3GAP1 and RAB3GAP2 orthologues in Danio rerio embryos and demonstrated that, whereas developmental expression of rab3gap1 was generalized (similar to that reported elsewhere in mice), rab3gap2 expression was restricted to the central nervous system [1].
• HL60 cells resistant to Adriamycin contain a 32P-labeled, Mr 150,000 surface membrane protein (p150) which is not detected in cells sensitive to drug [7].
• Cleavage of MP1 and release of a 150-kDa intermediate, p150, are likely to be important for embedding the replicase complex in cellular membranes [13].
• Leu-CAMs (CD11/CD18) consisting of LFA-1, Mac-1, and p150/95 are leukocyte cell surface glycoproteins that are involved in various leukocyte functions [14].

Associations of RAB3GAP2 with chemical compounds

• Polyacrylamide gel electrophoresis of p150 followed by silver staining shows no difference in the levels of this protein in sensitive and 80-fold drug-resistant cells [7].
• Tyrosine phosphorylated proteins with a molecular mass of 150 kDa (p150) and 115 kDa (p110) were found in both K-562 and MR-87 [15].
• Antiviral treatment with either foscarnet or ganciclovir induced rapid disappearance of p150-positive PMNL and MNL as well as CGC, followed by disappearance of p72-positive leukocytes within a few days. pp65-positive cells were the last to disappear [16].

Analytical, diagnostic and therapeutic context of RAB3GAP2

• Native immunoprecipitation experiments confirm that Sec13p exists in a complex with p150 in wild type cells [17].
• Collectively, IgM antibodies were detected to p150 in 9 of 12 (75%) patients and were detected before (2 cases), at the same time (1 case), or after (6 cases) detection of virus in cell cultures [18].

References