RAB3GAP1

Summary

Gene Symbol: RAB3GAP1
Description: RAB3 GTPase activating protein catalytic subunit 1
Alias: P130, RAB3GAP, RAB3GAP130, WARBM1, rab3 GTPase-activating protein catalytic subunit, RAB3 GTPase activating protein subunit 1 (catalytic), RAB3 GTPase-activating protein 130 kDa subunit, rab3-GAP p130
Species: human
Products:     RAB3GAP1

Top Publications

  1. Liegel R, Handley M, Ronchetti A, Brown S, Langemeyer L, Linford A, et al. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013;93:1001-14 pubmed publisher
    ..a spectrum of disorders characterized by eye, brain, and endocrine abnormalities caused by mutations in RAB3GAP1, RAB3GAP2, and RAB18...
  2. Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y. Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins. J Biol Chem. 1997;272:4655-8 pubmed
    ..The recombinant protein exhibited GAP activity toward the Rab3 subfamily members, and the catalytic domain was located at the C-terminal region. Northern blot analysis indicated that Rab3 GAP was ubiquitously expressed. ..
  3. Aligianis I, Johnson C, Gissen P, Chen D, Hampshire D, Hoffmann K, et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005;37:221-3 pubmed
    ..We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of ..
  4. Nagano F, Sasaki T, Fukui K, Asakura T, Imazumi K, Takai Y. Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein. J Biol Chem. 1998;273:24781-5 pubmed
    ..Rab3 GAP showed two bands with Mr of about 130,000 (p130) and 150,000 (p150) on SDS-polyacrylamide gel electrophoresis. p130, but not p150, showed the catalytic activity...
  5. Handley M, Aligianis I. RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. Biochem Soc Trans. 2012;40:1394-7 pubmed publisher
    ..Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2...
  6. Handley M, Morris Rosendahl D, Brown S, MacDonald F, Hardy C, Bem D, et al. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat. 2013;34:686-96 pubmed publisher
    ..Causative biallelic germline mutations have been identified in RAB3GAP1, RAB3GAP2, or RAB18, each of which encode proteins involved in membrane trafficking...
  7. Basuroy S, DUNAGAN M, Sheth P, Seth A, Rao R. Hydrogen peroxide activates focal adhesion kinase and c-Src by a phosphatidylinositol 3 kinase-dependent mechanism and promotes cell migration in Caco-2 cell monolayers. Am J Physiol Gastrointest Liver Physiol. 2010;299:G186-95 pubmed publisher
    ..c-Src and FAK was associated with a rapid increase in the tyrosine phosphorylation and the levels of paxillin and p130(CAS) in actin-rich, detergent-insoluble fractions...
  8. Tanaka S, Suzuki K, Sakaguchi M. The prolyl oligopeptidase inhibitor SUAM-14746 attenuates the proliferation of human breast cancer cell lines in vitro. Breast Cancer. 2017;24:658-666 pubmed publisher
    ..Moreover, the SUAM-14746-mediated cell cycle arrest of MCF7 cells was associated with increased pRb2/p130 protein expression and an increase in the number of cells in the quiescent G0 state, as defined by low ..
  9. Sancho V, Nuche Berenguer B, Jensen R. The Src kinase Yes is activated in pancreatic acinar cells by gastrointestinal hormones/neurotransmitters, but not pancreatic growth factors, which stimulate its association with numerous other signaling molecules. Biochim Biophys Acta. 2012;1823:1285-94 pubmed publisher
    ..Moreover, CCK/TPA stimulated Yes interacted with a number of other signaling proteins, including Shc, PKD, p130(Cas), PI3K and PTEN...

More Information

Publications127 found, 100 shown here

  1. Nishida S, Yoshizaki H, Yasui Y, Kuwahara T, Kiyokawa E, Kohno M. Collagen VI suppresses fibronectin-induced enteric neural crest cell migration by downregulation of focal adhesion proteins. Biochem Biophys Res Commun. 2018;495:1461-1467 pubmed publisher
    ..Additionally, in ENCCs cultured on plates containing ColVI, the expression and phosphorylation of p130Cas, a members of focal adhesion complexes, was reduced...
  2. Namkung J, Song J, Jo H, Kim M, Lew Y, Donahoe P, et al. Mullerian inhibiting substance induces apoptosis of human endometrial stromal cells in endometriosis. J Clin Endocrinol Metab. 2012;97:3224-30 pubmed publisher
    ..In the ESCs, which contain defective p16, MIS increased the expression of pocket proteins p107 and p130 and decreased E2F transcription factor 1. The results support a central role for MIS in endometriosis...
  3. Su S, Chen X, Geng J, Minges J, Grossman G, Wilson E. Melanoma antigen-A11 regulates substrate-specificity of Skp2-mediated protein degradation. Mol Cell Endocrinol. 2017;439:1-9 pubmed publisher
    ..MAGE-A11 increased Skp2-mediated degradation of cyclin A and retinoblastoma-related protein p130. In contrast, MAGE-A11 decreased Skp2-mediated degradation of E2F1 and Skp2 self-ubiquitination...
  4. Elenbaas J, Mouawad R, Henry R, Arnosti D, Payankaulam S. Role of Drosophila retinoblastoma protein instability element in cell growth and proliferation. Cell Cycle. 2015;14:589-97 pubmed publisher
    ..Intriguingly, cancer associated mutations affecting RB homologs p130 and p107 may similarly induce dominant phenotypes.
  5. Vélez Cruz R, Johnson D. The Retinoblastoma (RB) Tumor Suppressor: Pushing Back against Genome Instability on Multiple Fronts. Int J Mol Sci. 2017;18: pubmed publisher
    ..RB, in some cases, acts through its interaction with E2F1, other members of the pocket protein family (p107 and p130), and/or chromatin remodelers and modifiers...
  6. Hinrichs B, Matthews J, Siuda D, O Leary M, Wolfarth A, Saeedi B, et al. Serum Amyloid A1 Is an Epithelial Prorestitutive Factor. Am J Pathol. 2018;188:937-949 pubmed publisher
    ..and time dependent and is associated with epithelial reactive oxygen species production and alterations in p130 Crk-associated substrate staining...
  7. Burkhart D, Ngai L, Roake C, Viatour P, Thangavel C, Ho V, et al. Regulation of RB transcription in vivo by RB family members. Mol Cell Biol. 2010;30:1729-45 pubmed publisher
    ..Using these reporter mice and mutant alleles for Rb, p107, and p130, we found that RB family members modulate Rb transcription in specific cell populations in vivo and in culture...
  8. Triska P, Soares P, Patin E, Fernandes V, Cerny V, Pereira L. Extensive Admixture and Selective Pressure Across the Sahel Belt. Genome Biol Evol. 2015;7:3484-95 pubmed publisher
    ..The DARC gene region in Arabs and Nubians was enriched for African ancestry, whereas the RAB3GAP1/LCT/MCM6 region in Oromo, the TAS2R gene family in Fulani, and the ALMS1/NAT8 in Turkana and Samburu were ..
  9. Meng W, Pathak S, Ding Z, Zhang H, Adell G, Holmlund B, et al. Special AT-rich sequence binding protein 1 expression correlates with response to preoperative radiotherapy and clinical outcome in rectal cancer. Cancer Biol Ther. 2015;16:1738-45 pubmed publisher
    ..SATB1 negatively correlated with ataxia telangiectasia mutated (ATM) and pRb2/p130, and positively with Ki-67 and Survivin in RT patients, and their potential interaction through different canonical ..
  10. Chung Y, Kim H, Park S, Yoon J, Kim M, Nam S, et al. Transcriptome analysis reveals that Müllerian inhibiting substance regulates signaling pathways that contribute to endometrial carcinogenesis. Int J Oncol. 2015;46:2039-46 pubmed publisher
    ..apoptotic protease activating factor-1 (APAF-1), β-catenin-interacting protein (ICAT), Rb related protein 130 (p130), and inhibitor of disheveled Dvl and Axin complex (IDAX), were gradually increased over the time of the study, ..
  11. Cox C, Mandell E, STEWART L, Lu R, Johnson D, McCarter S, et al. Endosomal regulation of contact inhibition through the AMOT:YAP pathway. Mol Biol Cell. 2015;26:2673-84 pubmed publisher
    ..This increase in proliferation is dependent upon YAP activity and is complemented by overexpression of p130-AMOT. Furthermore, overexpression of EDTB inhibits the AMOT:YAP interaction...
  12. Schroder E, Klamer Z, Saral A, Sugg K, June C, Wymore T, et al. Clinical Variants of the Native Class D ?-Lactamase of Acinetobacter baumannii Pose an Emerging Threat through Increased Hydrolytic Activity against Carbapenems. Antimicrob Agents Chemother. 2016;60:6155-64 pubmed publisher
    ..Molecular dynamics simulations show that in OXA-66, P130 inhibits the side-chain rotation of I129 and thereby prevents doripenem binding because of steric clash...
  13. Rump P, Jazayeri O, van Dijk Bos K, Johansson L, van Essen A, Verheij J, et al. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. BMC Med Genomics. 2016;9:7 pubmed publisher
    ..Two unrelated patients had mutations in the ASPM gene. In seven other patients we found mutations in RAB3GAP1, RNASEH2B, KIF11, ERCC8, CASK, DYRK1A and BRCA2. In one of the sib-pairs, mutations were found in the RTTN gene...
  14. Dai X, She P, Chi F, Feng Y, Liu H, Jin D, et al. Phosphorylation of angiomotin by Lats1/2 kinases inhibits F-actin binding, cell migration, and angiogenesis. J Biol Chem. 2013;288:34041-51 pubmed publisher
    ..Here we report a novel role of the Hippo pathway in angiogenesis. Angiomotin p130 isoform (AMOTp130) is phosphorylated on a conserved HXRXXS motif by Lats1/2 downstream of GPCR signaling...
  15. Radulescu R. The nucleocrine pathway comes of age. Rom J Morphol Embryol. 2015;56:343-8 pubmed
    ..obtained as to the intranuclear presence of the previously surmised heterodimer between the EGF precursor and the p130 tumor suppressor...
  16. Topacio B, Zatulovskiy E, Cristea S, Xie S, Tambo C, Rubin S, et al. Cyclin D-Cdk4,6 Drives Cell-Cycle Progression via the Retinoblastoma Protein's C-Terminal Helix. Mol Cell. 2019;: pubmed publisher
    ..This helix-based docking mechanism is shared by the p107 and p130 Rb-family members across metazoans...
  17. Zeng H, Ortiz A, Shen P, Cheng C, Lee Y, Yu G, et al. Angiomotin regulates prostate cancer cell proliferation by signaling through the Hippo-YAP pathway. Oncotarget. 2017;8:10145-10160 pubmed publisher
    ..We found that AMOTp80, but not AMOT p130, functioned as a tumor promoter by enhancing PCa cell proliferation...
  18. Berrios C, Jung J, Primi B, Wang M, Pedamallu C, Duke F, et al. Malawi polyomavirus is a prevalent human virus that interacts with known tumor suppressors. J Virol. 2015;89:857-62 pubmed publisher
    ..The MWPyV small T antigen (ST) binds protein phosphatase 2A (PP2A), and the large T antigen (LT) binds pRb, p107, p130, and p53...
  19. Ponnusamy M, Li P, Wang K. Understanding cardiomyocyte proliferation: an insight into cell cycle activity. Cell Mol Life Sci. 2017;74:1019-1034 pubmed publisher
    ..cyclins and CDKs), inhibitors (p21, p27, p57, p16, and p18), and cell-cycle-associated proteins (Rb, p107, and p130) in cardiomyocytes during gestation and postnatal life are described in this review...
  20. An Y, Wang G, Diao Y, Long Y, Fu X, Weng M, et al. A Molecular Switch Regulating Cell Fate Choice between Muscle Progenitor Cells and Brown Adipocytes. Dev Cell. 2017;41:382-391.e5 pubmed publisher
    ..targets of Pax7 in MPC, potently repress Prdm16, a BA-specific lineage-determining gene, via the E2F4/p107/p130 transcription repressor complex...
  21. Bartlett C, Scott R, Carota I, Wnuk M, Kanwar Y, Miner J, et al. Glomerular mesangial cell recruitment and function require the co-receptor neuropilin-1. Am J Physiol Renal Physiol. 2017;313:F1232-F1242 pubmed publisher
    ..Biochemical analyses reveal that Nrp1 is required for PDGFB-dependent phosphorylation of p130 Crk-associated substrate (p130Cas), a large-scaffold molecule that is involved in motility of other cell types...
  22. Zine El Abidine A, Tomaic V, Bel Haj Rhouma R, Massimi P, Guizani I, Boubaker S, et al. A naturally occurring variant of HPV-16 E7 exerts increased transforming activity through acquisition of an additional phospho-acceptor site. Virology. 2017;500:218-225 pubmed publisher
    ..A further consequence is an increased ability to target pRb and p130 for degradation...
  23. Song Y, Gilbert D, O Sullivan T, Yang C, Pan W, Fathalizadeh A, et al. Carcinoma initiation via RB tumor suppressor inactivation: a versatile approach to epithelial subtype-dependent cancer initiation in diverse tissues. PLoS ONE. 2013;8:e80459 pubmed publisher
    ..Cre-dependent expression of a protein that dominantly inactivates RB and functionally redundant proteins p107 and p130, neoplasia could be initiated in either K18 or K19 expressing cells of numerous tissues...
  24. Latorre I, Chesney M, Garrigues J, Stempor P, Appert A, Francesconi M, et al. The DREAM complex promotes gene body H2A.Z for target repression. Genes Dev. 2015;29:495-500 pubmed publisher
    ..Z. In mutants of lin-35, the sole p130/Rb-like gene in C. elegans, DREAM targets have reduced gene body HTZ-1/H2A.Z and increased expression...
  25. Cai L, Ye Y, Jiang Q, Chen Y, Lyu X, Li J, et al. Epstein-Barr virus-encoded microRNA BART1 induces tumour metastasis by regulating PTEN-dependent pathways in nasopharyngeal carcinoma. Nat Commun. 2015;6:7353 pubmed publisher
    ..Reduction of PTEN dosage by EBV-miR-BART1 activates PTEN-dependent pathways including PI3K-Akt, FAK-p130(Cas) and Shc-MAPK/ERK1/2 signalling, drives EMT, and consequently increases migration, invasion and metastasis of ..
  26. Mele D, Bista P, Baez D, Huber B. Dipeptidyl peptidase 2 is an essential survival factor in the regulation of cell quiescence. Cell Cycle. 2009;8:2425-34 pubmed
    ..A decrease in DPP2 activity was found to cause resting cells to exit from G(0), accompanied by a decrease in p130, p27(Kip1) and p21(Cip1) protein levels...
  27. Zhang C, Wang T, Wu H, Zhang L, Li K, Wang F, et al. HEF1 regulates differentiation through the Wnt5a/β-catenin signaling pathway in human gastric cancer. Biochem Biophys Res Commun. 2018;: pubmed publisher
    The human enhancer of filamentation 1 (HEF1) is a multi-domain docking protein of the p130 Cas family. Research reports on the mechanism of HEF1 in gastric cancer (GC) differentiation are limited...
  28. Tabassum R, Chauhan G, Dwivedi O, Mahajan A, Jaiswal A, Kaur I, et al. Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. Diabetes. 2013;62:977-86 pubmed publisher
    ..The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders...
  29. Ullah F, Khan T, Ali N, Malik F, Kayani M, Shah S, et al. Promoter Methylation Status Modulate the Expression of Tumor Suppressor (RbL2/p130) Gene in Breast Cancer. PLoS ONE. 2015;10:e0134687 pubmed publisher
    ..Aberrant expression of tumor suppressor genes may correspond to the abnormal cell development and tumorigenesis. Rbl2/p130, a member of retinoblastoma family of proteins, has growth suppressive properties...
  30. Petrov N, Vereschagina N, Sushilova E, Kropotov A, Miheeva N, Popov B. [PRODUCT OF THE BMI1--A KEY COMPONENT OF POLYCOMB--POSITIVELY REGULATES ADIPOCYTE DIFFERENTIATION OF MOUSE MESENCHYMAL STEM CELLS]. Tsitologiia. 2016;58:83-90 pubmed
    ..C3H10T1/2 cell line was associated with an increase in the expression levels of BMI1, the genes of pRb family (RB, p130) and demethylase UTX, but not methyltransferase EZH2, whose products regulate the methylation levels of H3K27...
  31. Zhang P, Guo A, Possemato A, Wang C, Beard L, Carlin C, et al. Identification and functional characterization of p130Cas as a substrate of protein tyrosine phosphatase nonreceptor 14. Oncogene. 2013;32:2087-95 pubmed publisher
    ..Here, we identify a list of potential substrates of PTPN14 using a phospho-proteomic approach. We show that p130 Crk-associated substrate (p130Cas) is a direct substrate of PTPN14 and that PTPN14 specifically regulates p130Cas ..
  32. Ortiz A, Lee Y, Yu G, Liu H, Lin S, Bilen M, et al. Angiomotin is a novel component of cadherin-11/β-catenin/p120 complex and is critical for cadherin-11-mediated cell migration. FASEB J. 2015;29:1080-91 pubmed publisher
    ..Further, Cad11 preferentially interacts with Amot-p80 than Amot-p130 isoform and binds directly to the middle domain of Amot-p80...
  33. Agrelo R, Kishimoto H, Novatchkova M, Peraza V, Paolino M, Souabni A, et al. SATB1 collaborates with loss of p16 in cellular transformation. Oncogene. 2013;32:5492-500 pubmed publisher
    ..A combined deletion of the RB proteins, RB, p107 and p130 (triple-mutant; TM), prevents SATB1-induced G1 arrest, which is restored upon the reintroduction of RB into SATB1-..
  34. Sengupta S, Lingnurkar R, Carey T, Pomaville M, Kar P, Feig M, et al. The Evolutionarily Conserved C-terminal Domains in the Mammalian Retinoblastoma Tumor Suppressor Family Serve as Dual Regulators of Protein Stability and Transcriptional Potency. J Biol Chem. 2015;290:14462-75 pubmed publisher
    ..We find that steady state levels of all RB family members, RB, p107, and p130, were diminished during embryonic stem cell differentiation concomitant with their target gene acquisition...
  35. Li E, Zhang J. Essential role of SH3GL1 in interleukin-6(IL-6)- and vascular endothelial growth factor (VEGF)-triggered p130cas-mediated proliferation and migration of osteosarcoma cells. Hum Cell. 2017;30:300-310 pubmed publisher
    ..and migration are parallel to significant increased expression of SH3GL1 and the phosphorylation level of P130cas...
  36. Park A, Tsunoda I, Yoshie O. Heat shock protein 27 promotes cell cycle progression by down-regulating E2F transcription factor 4 and retinoblastoma family protein p130. J Biol Chem. 2018;293:15815-15826 pubmed publisher
    ..to be bound by the E2F family proteins (E2F-1 to E2F-8) and retinoblastoma (RB) family proteins (RB1, p107, and p130), among which E2F-4 and p130 were strongly up-regulated in HSP27-knockdown cells...
  37. Kim J, Kim K, Kim I, Seong S, Nam K, Lee S, et al. Role of CrkII Signaling in RANKL-Induced Osteoclast Differentiation and Function. J Immunol. 2016;196:1123-31 pubmed publisher
    ..Phosphorylation of p130 Crk-associated substrate (p130Cas) by osteoclastogenic cytokines in preosteoclasts increased the interaction ..
  38. Wu Q, Sun X, Yue W, Lu T, Ruan Y, Chen T, et al. RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. Mol Brain. 2016;9:19 pubmed publisher
    ..Overexpression of dominant negative RAB18 or disruption of RAB3GAP (RAB18GEF) also results in delayed neuronal migration in the developing mouse cortex and inhibition of neurite ..
  39. Basagiannis D, Christoforidis S. Constitutive Endocytosis of VEGFR2 Protects the Receptor against Shedding. J Biol Chem. 2016;291:16892-903 pubmed publisher
    ..fragment (100 kDa, s100), which is released in the extracellular space, and a residual C-terminal part (130 kDa, p130) that remains integrated at the plasma membrane...
  40. Lee J, Jung J, Chae Y, Park H, Kim W, Lee S, et al. Long Noncoding RNA snaR Regulates Proliferation, Migration and Invasion of Triple-negative Breast Cancer Cells. Anticancer Res. 2016;36:6289-6295 pubmed
    ..Among 90 lncRNAs, E2F transcription factor 4, p107/p130-binding (E2F4) antisense, insulin-like growth factor 2 antisense (IGF2AS), snaR, and small nucleolar RNA host gene ..
  41. Tsang W, Zhang F, He Q, Cai W, Huang J, Chan W, et al. Icaritin enhances mESC self-renewal through upregulating core pluripotency transcription factors mediated by ERα. Sci Rep. 2017;7:40894 pubmed publisher
    ..PCR array screening reveals that caudal-related homeobox 2 (Cdx2) and Rbl2/p130 are remarkably suppressed in mESCs treated with Icaritin...
  42. Iness A, Felthousen J, Ananthapadmanabhan V, Sesay F, Saini S, Guiley K, et al. The cell cycle regulatory DREAM complex is disrupted by high expression of oncogenic B-Myb. Oncogene. 2019;38:1080-1092 pubmed publisher
    ..Alternatively, the MuvB core interacts with Rb-like protein p130 and E2F4-DP1 to form the DREAM complex that mediates global repression of cell cycle genes in G0/G1, including a ..
  43. Alessio N, Capasso S, Di Bernardo G, Cappabianca S, Casale F, Calarco A, et al. Mesenchymal stromal cells having inactivated RB1 survive following low irradiation and accumulate damaged DNA: Hints for side effects following radiotherapy. Cell Cycle. 2017;16:251-258 pubmed publisher
    ..We extended our analysis to the other members of retinoblastoma gene family: RB2/P130 and P107...
  44. Liban T, Medina E, Tripathi S, Sengupta S, Henry R, Buchler N, et al. Conservation and divergence of C-terminal domain structure in the retinoblastoma protein family. Proc Natl Acad Sci U S A. 2017;114:4942-4947 pubmed publisher
    The retinoblastoma protein (Rb) and the homologous pocket proteins p107 and p130 negatively regulate cell proliferation by binding and inhibiting members of the E2F transcription factor family...
  45. Qiang L, Shah P, Barcellos Hoff M, He Y. TGF-β signaling links E-cadherin loss to suppression of nucleotide excision repair. Oncogene. 2016;35:3293-302 pubmed publisher
    ..Loss of E-cadherin activates the E2F4 and p130/107 transcription repressor complexes to suppress the transcription of both XPC and DDB1 through activating the ..
  46. Barrow Laing L, Chen W, Roman A. Low- and high-risk human papillomavirus E7 proteins regulate p130 differently. Virology. 2010;400:233-9 pubmed publisher
    The E7 protein of high-risk human papillomaviruses (HR HPVs) targets pRb family members (pRb, p107 and p130) for degradation; low-risk (LR) HPV E7 only targets p130 for degradation...
  47. Seawright J, Luttrell M, Trache A, Woodman C. Short-term increases in pressure and shear stress attenuate age-related declines in endothelial function in skeletal muscle feed arteries. Eur J Appl Physiol. 2016;116:1305-11 pubmed publisher
    ..SFA from young (4 months) and old (24 months) Fischer 344 rats were cannulated and pressurized at 90 (P90) or 130 (P130) cmH2O and exposed to no SS (0 dyn/cm(2)) or high SS (~65 dyn/cm(2)) for 1 h...
  48. Cross A, Wilson A, Guerrero M, Thomas K, Bachir A, Kubow K, et al. Breast cancer antiestrogen resistance 3-p130Cas interactions promote adhesion disassembly and invasion in breast cancer cells. Oncogene. 2016;35:5850-5859 pubmed publisher
    ..One of two established binding partners of BCAR3 is the adaptor molecule, p130Cas...
  49. Tonks I, Mukhopadhyay P, Schroder W, Sorolla A, Mould A, Handoko H, et al. Melanocyte transformation requires complete loss of all pocket protein function via a mechanism that mitigates the need for MAPK pathway activation. Oncogene. 2017;36:3789-3795 pubmed publisher
    ..However, there are also two other PPs, p107 and p130, which, when phosphorylated by CDK-cyclin complexes, play a role in permitting cell progression...
  50. Xu D, Li Y, Wu L, Li Y, Zhao D, Yu J, et al. Rab18 promotes lipid droplet (LD) growth by tethering the ER to LDs through SNARE and NRZ interactions. J Cell Biol. 2018;217:975-995 pubmed publisher
    ..b>Rab3GAP1/2, the GEF of Rab18, promoted LD growth by activating and targeting Rab18 to LDs...
  51. Schwentner R, Papamarkou T, Kauer M, Stathopoulos V, Yang F, Bilke S, et al. EWS-FLI1 employs an E2F switch to drive target gene expression. Nucleic Acids Res. 2015;43:2780-9 pubmed publisher
    ..in Ewing sarcoma we report replacement of E2F3/pRB by constitutively expressed repressive E2F4/p130 complexes on target genes upon EWS-FLI1 modulation...
  52. Mhlanga Mutangadura T, Johnson G, Schnabel R, Taylor J, Johnson G, Katz M, et al. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis. 2016;86:75-85 pubmed publisher
    ..and neuronal vacuolation (POANV) was used to generate a whole genome sequence which contained a homozygous RAB3GAP1:c.743delC mutation that was absent from 73 control canine whole genome sequences...
  53. Mages C, Wintsche A, Bernhart S, Müller G. The DREAM complex through its subunit Lin37 cooperates with Rb to initiate quiescence. elife. 2017;6: pubmed publisher
    ..The Rb-related proteins p107 and p130, which are components of the DREAM complex, had been suggested to be responsible for a continued ability to arrest ..
  54. Cito L, Indovina P, Forte I, Pentimalli F, Di Marzo D, Somma P, et al. pRb2/p130 localizes to the cytoplasm in diffuse gastric cancer. J Cell Physiol. 2015;230:802-5 pubmed publisher
    pRb2/p130 is a key tumor suppressor, whose oncosuppressive activity has mainly been attributed to its ability to negatively regulate cell cycle by interacting with the E2F4 and E2F5 transcription factors...
  55. Guiley K, Liban T, Felthousen J, Ramanan P, Litovchick L, Rubin S. Structural mechanisms of DREAM complex assembly and regulation. Genes Dev. 2015;29:961-74 pubmed publisher
    ..genes during quiescence through scaffolding MuvB proteins with E2F4/5 and the Rb tumor suppressor paralog p107 or p130. Upon cell cycle entry, MuvB dissociates from p107/p130 and recruits B-Myb and FoxM1 for up-regulating mitotic gene ..
  56. Fischer M, Quaas M, Nickel A, Engeland K. Indirect p53-dependent transcriptional repression of Survivin, CDC25C, and PLK1 genes requires the cyclin-dependent kinase inhibitor p21/CDKN1A and CDE/CHR promoter sites binding the DREAM complex. Oncotarget. 2015;6:41402-17 pubmed publisher
    ..Chromatin immunoprecipitation (ChIP) data indicate that promoter binding of B-MYB switches to binding of E2F4 and p130 resulting in a replacement of the MMB (Myb-MuvB) by the DREAM complex...
  57. Seawright J, Trache A, Wilson E, Woodman C. Short-duration increases in intraluminal pressure improve vasoconstrictor responses in aged skeletal muscle feed arteries. Eur J Appl Physiol. 2016;116:931-7 pubmed publisher
    ..Following the 1-h treatment, pressure in P130 arteries was lowered to 90 cmH2O for examination of vasoconstrictor responses to norepinephrine (NE), ..
  58. Vilas J, Ferreirós A, Carneiro C, Morey L, Da Silva Álvarez S, Fernandes T, et al. Transcriptional regulation of Sox2 by the retinoblastoma family of pocket proteins. Oncotarget. 2015;6:2992-3002 pubmed
    ..The members of the retinoblastoma family of pocket proteins, pRb, p107 and p130, are negative regulators of the cell cycle with tumor suppressor activity and with roles in differentiation...
  59. Wigerius M, Quinn D, Diab A, Clattenburg L, Kolar A, Qi J, et al. The polarity protein Angiomotin p130 controls dendritic spine maturation. J Cell Biol. 2018;217:715-730 pubmed publisher
    ..Moreover, our findings may link AMOT-130 loss and the related spine defects to neurological disorders. ..
  60. Rocha Sanchez S, Scheetz L, Contreras M, Weston M, Korte M, McGee J, et al. Mature mice lacking Rbl2/p130 gene have supernumerary inner ear hair cells and supporting cells. J Neurosci. 2011;31:8883-93 pubmed publisher
    ..The retinoblastoma (pRB) family of cell cycle regulators, Rb1, Rbl1 (p107), and Rbl2 (p130), regulate the G(1)- to S-phase transition in proliferating cells...
  61. Redwood A, Perkins S, VanderWaal R, Feng Z, Biehl K, Gonzalez Suarez I, et al. A dual role for A-type lamins in DNA double-strand break repair. Cell Cycle. 2011;10:2549-60 pubmed
    ..involving transcriptional downregulation of BRCA1 and RAD51 by the repressor complex formed by the Rb family member p130 and E2F4. In line with the DNA repair defects, lamins-deficient cells exhibit increased radiosensitivity...
  62. Nor Rashid N, Yong Z, Yusof R, Watson R. HPV 16E7 and 48E7 proteins use different mechanisms to target p130 to overcome cell cycle block. Virol J. 2016;13:2 pubmed publisher
    Retinoblastoma like protein 2 (RBL2) or p130 is a member of the pocket protein family, which is infrequently mutated in human tumours. Its expression is posttranscriptionally regulated and largely G0 restricted...
  63. Kabzinska D, Mierzewska H, Senderek J, Kochanski A. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. Folia Neuropathol. 2016;54:273-281 pubmed
    ..sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene. We have detected some DNA variants which may be responsible for cardiomyopathy...
  64. Rashid N, Yusof R, Watson R. A B-myb--DREAM complex is not critical to regulate the G2/M genes in HPV-transformed cell lines. Anticancer Res. 2014;34:6557-63 pubmed
    ..Our previous study showed that the repressive p130-dimerization partner, RB-like, E2F and multi-vulval class (DREAM) complex was disrupted by HPV16 E7 proteins in ..
  65. Park A, Liegel R, Ronchetti A, Ebert A, Geurts A, Sidjanin D. Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. BMC Genet. 2014;15:135 pubmed publisher
    ..In addition to TBC1D20, mutations in RAB3GAP1, RAB3GAP2 and RAB18 cause WARBM1-3 respectively...
  66. Kumbrink J, Soni S, Laumbacher B, Loesch B, Kirsch K. Identification of Novel Crk-associated Substrate (p130Cas) Variants with Functionally Distinct Focal Adhesion Kinase Binding Activities. J Biol Chem. 2015;290:12247-55 pubmed publisher
    Elevated levels of p130(Cas) (Crk-associated substrate)/BCAR1 (breast cancer antiestrogen resistance 1 gene) are associated with aggressiveness of breast tumors...
  67. Orlando S, Gallastegui E, Besson A, Abril G, Aligué R, Pujol M, et al. p27Kip1 and p21Cip1 collaborate in the regulation of transcription by recruiting cyclin-Cdk complexes on the promoters of target genes. Nucleic Acids Res. 2015;43:6860-73 pubmed publisher
    Transcriptional repressor complexes containing p130 and E2F4 regulate the expression of genes involved in DNA replication...
  68. Hesbacher S, Pfitzer L, Wiedorfer K, Angermeyer S, Borst A, Haferkamp S, et al. RB1 is the crucial target of the Merkel cell polyomavirus Large T antigen in Merkel cell carcinoma cells. Oncotarget. 2016;7:32956-68 pubmed publisher
    The pocket protein (PP) family consists of the three members RB1, p107 and p130 all possessing tumor suppressive properties. Indeed, the PPs jointly control the G1/S transition mainly by inhibiting E2F transcription factors...
  69. Liban T, Thwaites M, Dick F, Rubin S. Structural Conservation and E2F Binding Specificity within the Retinoblastoma Pocket Protein Family. J Mol Biol. 2016;428:3960-3971 pubmed publisher
    The human pocket proteins retinoblastoma (Rb), p107, and p130 are critical negative regulators of the cell cycle and contribute to tumor suppression...
  70. Shigeno Nakazawa Y, Kasai T, Ki S, Kostyanovskaya E, Pawlak J, Yamagishi J, et al. A pre-metazoan origin of the CRK gene family and co-opted signaling network. Sci Rep. 2016;6:34349 pubmed publisher
    ..the mammalian CRK/CRKL SH2 binding consensus phospho-YxxP, and to the SRC substrate/focal adhesion protein BCAR1 (p130CAS) in the presence of activated SRC...
  71. Kooi I, van Mil S, MacPherson D, Mol B, Moll A, Meijers Heijboer H, et al. Genomic landscape of retinoblastoma in Rb-/- p130-/- mice resembles human retinoblastoma. Genes Chromosomes Cancer. 2017;56:231-242 pubmed publisher
    ..by deleting the genes encoding for retinoblastoma susceptibility protein pRb and one of its family members p107 or p130. In Rb-/- p107-/- retinoblastomas, somatic copy number alterations (SCNAs) like Mdm2 ..
  72. Zhang J, Xu K, Liu P, Geng Y, Wang B, Gan W, et al. Inhibition of Rb Phosphorylation Leads to mTORC2-Mediated Activation of Akt. Mol Cell. 2016;62:929-942 pubmed publisher
    ..Mechanistically, Rb, but not p107 or p130, interacts with Sin1 and blocks the access of Akt to mTORC2, leading to attenuated Akt activation and increased ..
  73. Depoortere F, Pirson I, Bartek J, Dumont J, Roger P. Transforming growth factor beta(1) selectively inhibits the cyclic AMP-dependent proliferation of primary thyroid epithelial cells by preventing the association of cyclin D3-cdk4 with nuclear p27(kip1). Mol Biol Cell. 2000;11:1061-76 pubmed
    ..TGFbeta inhibited the phosphorylation of Rb, p107, and p130 induced by TSH, but it weakly affected the phosphorylation state of Rb-related proteins in EGF+serum-treated cells...
  74. Hao X, Chen P, Chen Z, Li S, Wang Y. Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population. Ophthalmic Genet. 2015;36:132-6 pubmed publisher
    ..SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-..
  75. Squillaro T, Severino V, Alessio N, Farina A, Di Bernardo G, Cipollaro M, et al. De-regulated expression of the BRG1 chromatin remodeling factor in bone marrow mesenchymal stromal cells induces senescence associated with the silencing of NANOG and changes in the levels of chromatin proteins. Cell Cycle. 2015;14:1315-26 pubmed publisher
    ..We found 4 E2F binding motifs on NANOG promoter, which can be occupied by RB1 and RB2/P130. These are members of the retinoblastoma gene family...
  76. Okamura K, Nohara K. Long-term arsenite exposure induces premature senescence in B cell lymphoma A20 cells. Arch Toxicol. 2016;90:793-803 pubmed publisher
    ..through induction of cyclin-dependent kinase inhibitor p16(INK4a) followed by accumulation of an Rb family protein, p130. In this study, we further investigated the consequences of long-term arsenite exposure of A20 cells...
  77. Sengupta S, Henry R. Regulation of the retinoblastoma-E2F pathway by the ubiquitin-proteasome system. Biochim Biophys Acta. 2015;1849:1289-97 pubmed publisher
    The retinoblastoma tumor suppressor (RB) and its related family members p107 and p130 regulate cell proliferation through the transcriptional repression of genes involved in cellular G1 to S phase transition...
  78. Mileo A, Mattarocci S, Matarrese P, Anticoli S, Abbruzzese C, Catone S, et al. Hepatitis C virus core protein modulates pRb2/p130 expression in human hepatocellular carcinoma cell lines through promoter methylation. J Exp Clin Cancer Res. 2015;34:140 pubmed publisher
    ..e. pRb, p107 and pRb2/p130. We used a model system consisting of the HuH-7, HCV-free, human hepatocellular carcinoma cell line and of the HuH-..
  79. Yin X, Yang X, Cui Y, Zhang S. Expression of three proteins in endometrioid adenocarcinoma and their significance in clinical nursing, diagnosis and treatment. Eur Rev Med Pharmacol Sci. 2018;22:55-61 pubmed publisher
    ..the role of NEDD9 (neural precursor cell expressed developmentally down-regulated 9), BCAR1/P130CAS (BCAR1/P130 Crk-associated substrate) and paxillin in predicting the prognosis of endometrioid adenocarcinoma (EA), so as to ..
  80. Pentimalli F, Forte I, Esposito L, Indovina P, Iannuzzi C, Alfano L, et al. RBL2/p130 is a direct AKT target and is required to induce apoptosis upon AKT inhibition in lung cancer and mesothelioma cell lines. Oncogene. 2018;37:3657-3671 pubmed publisher
    The retinoblastoma (RB) protein family includes RB1/p105, RBL1/p107, and RBL2/p130, which are key factors in cell-cycle regulation and stand at the crossroads of multiple pathways dictating cell fate decisions...
  81. Flowers S, Patel P, Gleicher S, Amer K, Himelman E, Goel S, et al. p107-Dependent recruitment of SWI/SNF to the alkaline phosphatase promoter during osteoblast differentiation. Bone. 2014;69:47-54 pubmed publisher
    ..The role of the following proteins, pRB, p107 and p130, is particularly significant in differentiation to the osteoblast lineage, as human germ-line mutations of RB1 ..
  82. Cheng Y, Wang J, Wang Y, Ding M. Synaptotagmin 1 directs repetitive release by coupling vesicle exocytosis to the Rab3 cycle. elife. 2015;4: pubmed publisher
    ..We uncovered the long-sought molecular apparatus linking vesicle exocytosis to Rab3 cycling and we also revealed the important function of synaptotagmin 1 in repetitive synaptic vesicle release. ..
  83. Iwahori S, Umaña A, VanDeusen H, Kalejta R. Human cytomegalovirus-encoded viral cyclin-dependent kinase (v-CDK) UL97 phosphorylates and inactivates the retinoblastoma protein-related p107 and p130 proteins. J Biol Chem. 2017;292:6583-6599 pubmed publisher
    ..Here, we identify the other Rb family members p107 and p130 as novel targets of UL97...
  84. Abdel Salam G, Hassan N, Kayed H, Aligianis I. Phenotypic variability in Micro syndrome: report of new cases. Genet Couns. 2007;18:423-35 pubmed
    ..Mutation analysis for two patients showed homozygous nonsense mutation of RAB3GAP1 in one while the other showed no evidence of linkage to either RAB3GAP1 or RAB2GAP2...
  85. Huertas Vazquez A, Nelson C, Guo X, Reinier K, Uy Evanado A, Teodorescu C, et al. Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease. PLoS ONE. 2013;8:e59905 pubmed publisher
    ..associated with increased risk of SCD after correction for multiple comparisons at: rs6730157 in the RAB3GAP1 gene on chromosome 2 (P = 4.93×10(-12), OR = 1...
  86. Rasnitsyn A, Doucette L, Seifi M, Footz T, Raymond V, Walter M. FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25. PLoS ONE. 2017;12:e0178518 pubmed publisher
    ..In this study, using biochemical and molecular techniques, we show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25, three genes with central roles in both exocytosis and endocytosis, responsible for ..
  87. Warburg M, Sjo O, Fledelius H, Pedersen S. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. Am J Dis Child. 1993;147:1309-12 pubmed
    ..The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features. ..
  88. Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozánek M, Rasková D, et al. Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. Am J Med Genet A. 2016;170:1843-8 pubmed publisher
    ..using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*)...
  89. Clabecq A, Henry J, Darchen F. Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP. J Biol Chem. 2000;275:31786-91 pubmed
    ..We propose that Rab3-GAP, like Ras- and Rho-GAPs, stabilizes the transition state of Rab3 and provides a critical arginine residue to accelerate the GTPase reaction. ..
  90. Alessio N, Capasso S, Ferone A, Di Bernardo G, Cipollaro M, Casale F, et al. Misidentified Human Gene Functions with Mouse Models: The Case of the Retinoblastoma Gene Family in Senescence. Neoplasia. 2017;19:781-790 pubmed publisher
    ..e., RB1, RB2/P130, and P107), all of which participate in controlling the cell cycle and associated phenomena, including ..
  91. Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, et al. A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter. Genes Cells. 2003;8:537-46 pubmed
    ..These results indicate that rabconnectin-3 consists of the alpha and beta subunits and binds directly Rab3 GEP through the beta subunit and indirectly Rab3 GAP through an unidentified molecule(s). ..
  92. Alvaro Blanco J, Urso K, Chiodo Y, Martín Cortázar C, Kourani O, Arco P, et al. MAZ induces MYB expression during the exit from quiescence via the E2F site in the MYB promoter. Nucleic Acids Res. 2017;45:9960-9975 pubmed publisher
    ..Moreover, while forced RB or p130 expression repressed the activity of a luciferase reporter driven by the MYB-E2F element, co-expression of MAZ ..