NCKIPSD

Description

The NCKIPSD (NCK interacting protein with SH3 domain) is a protein-coding gene located on chromosome 3.

NCK-interacting protein with SH3 domain (NCKIPSD) is a protein encoded by the NCKIPSD gene in humans. It resides exclusively in the cell nucleus and participates in signal transduction. NCKIPSD may contribute to the maintenance of sarcomeres and the assembly of myofibrils into sarcomeres. It is also critical for stress fiber formation. The gene is linked to therapy-related leukemia through a chromosomal translocation t(3;11)(p21;q23) involving NCKIPSD and the myeloid/lymphoid leukemia gene. Alternative splicing occurs at this locus, resulting in two transcript variants that encode distinct isoforms. NCKIPSD interacts with Grb2 and NCK1.

NCKIPSD plays a crucial role in stress fiber formation triggered by active diaphanous protein homolog 1 (DRF1). It induces microspike formation in living organisms. In laboratory settings, it enhances N-WASP-mediated ARP2/3 complex activation even without the presence of CDC42. It may contribute significantly to the maintenance of sarcomeres and/or the assembly of myofibrils into sarcomeres. NCKIPSD is implicated in regulating actin polymerization and cell adhesion. It participates in angiogenesis.

NCKIPSD is also known as AF3P21, DIP, DIP1, ORF1, SPIN90, VIP54, WASLBP, WISH.

Associated Diseases

WES Whole Exome Sequencing