ARPC1B gene

actin related protein 2/3 complex subunit 1B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Mar 2011]

From UniProt:

Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:11741539, PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:11741539, PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).

From NCBI Gene:

  • PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE

From UniProt:

Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PLTEID): An autosomal recessive disorder characterized by platelet abnormalities, vasculitis, eosinophilia, and predisposition to inflammatory diseases. [MIM:617718]

Cytogenetic Location: 7q22.1, which is the long (q) arm of chromosome 7 at position 22.1

Molecular Location: base pairs 99,374,254 to 99,394,805 on chromosome 7 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 7q22.1, which is the long (q) arm of chromosome 7 at position 22.1
  • ARC41
  • p40-ARC
  • p41-ARC
  • PLTEID