NCKIPSD Antibody – Mouse Polyclonal

The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

Function: Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo

By similarity. In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42

By similarity. May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis. Ref.13

Subunit structure: Associates with the intermediate filaments, vimentin and desmin. Binds the first and third SH3 domains of NCK. Binds the proline-rich domains of N-WASP through its SH3 domain

By similarity. Similarly, binds diaphanous protein homolog 1 (DRF1). Binds the SH3 domains of GRB2 through its proline-rich domains. Interacts with Helicobacter pylori toxin vacA. Isoform 4 interacts with FHOD1. Interacts with FASLG. Interacts with TMIGD2. Ref.2 Ref.6 Ref.11 Ref.13

Subcellular location: Nucleus. Note: Colocalizes with DRF1 at membrane ruffles, and with Nck at Z-disks in mature cardiac myocytes.

Tissue specificity: Highest expression in heart, brain, skeletal muscle, kidney and liver. Lower levels in placenta, lung, small intestine and leukocytes. Weak expression in colon, thymus and spleen. Ref.2

Involvement in disease: A chromosomal aberration involving NCKIPSD/AF3p21 is found in therapy-related leukemia. Translocation t(3;11)(p21;q23) with KMT2A/MLL1.

Sequence similarities: Contains 1 SH3 domain.

Sequence caution: The sequence BAG57476.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.