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A homozygous frameshift mutation in ARPC1B (p.Val91Trpfs*30) was identified in a child with microthrombocytopenia, eosinophilia and inflammatory disease. Platelet lysates contained no ARPC1B protein and reduced Arp2/3 complex. Missense ARPC1B mutations were identified in an unrelated patient with similar symptoms and ARPC1B deficiency. ARPC1B-deficient platelets are microthrombocytes with abnormal spreading behavior.
A homozygous 2 bp deletion, n.c.G623DEL-TC (p.V208VfsX20), in Arp2/3 complex component ARPC1B that causes a frame shift resulting in premature termination was found in 2 brothers with hematopoietic and immunologic symptoms reminiscent of Wiskott-Aldrich syndrome. Wild-type ARPC1B but not mutant was able to rescue a deficiency in a zebrafish model. ARPC1B expression is restricted to hematopoietic cells.
This study identified two low-frequency nonsynonymous variants at FKBPL (rs200847762, OR = 0.34, 95% CI = 0.20-0.57, P = 4.31 x 10-5) and ARPC1B (rs1045012, OR = 0.56, 95% CI = 0.43-0.74, P = 4.30 x 10-5) associated with breast cancer risk.
low-expression of ARPC1B is significantly associated with LNM and advanced tumor staging whereas high expression of Cav-1 can be a prognostic indicator for poor prognosis in OSCC patients.
p41-Arc activates a senescence program in p53- and Rb-independent ways.
Arpc1b is both a physiological activator and substrate of Aurora A kinase and these interactions help to maintain mitotic integrity in mammalian cells.
INSIG1 and p41 Arp2/3 complex (p41-Arc)reduced expression might be involved in gastric cancer development or progression
Phosphorylation of p41-ARC by p21-activated kinase 1.
From the analysis of the different radio-sensitivity cancer cell lines, the Arpc1b gene was selected as a prediction marker gene for sensitivity of CMM to radiotherapy.
The GMF-Arp2 interface reveals how the ADF-H actin-binding domain in GMF is exploited to specifically recognize Arp2/3 complex and not actin.
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase.
ARP2/3 protein complex subunit p41
, actin-related protein 2/3 complex subunit 1B
, arp2/3 complex 41 kDa subunit
, Actin-related protein complex 1b
, actin related protein 2/3 complex subunit 1B
, ARP2/3 complex 41 kDa subunit
, actin related protein 2/3 complex, subunit 1A, 41kDa
, actin related protein 2/3 complex, subunit 1B, 41kDa
, actin-related protein 2/3 complex subunit 1B-like