ANKRD15

This gene encodes a protein containing four ankyrin repeat domains in its C-terminus. The suggested role for this protein is in tumorigenesis of renal cell carcinoma. Two alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]

Full Name

KN motif and ankyrin repeat domains 1

Function

Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457).

Biological Process

Actin cytoskeleton organization Source: UniProtKB
Cell population proliferation Source: UniProtKB
Glomerular visceral epithelial cell migration Source: UniProtKB
Negative regulation of actin filament polymerization Source: UniProtKB
Negative regulation of cell migration Source: UniProtKB
Negative regulation of insulin receptor signaling pathway Source: UniProtKB
Negative regulation of lamellipodium morphogenesis Source: UniProtKB
Negative regulation of neuron projection development Source: UniProtKB
Negative regulation of Rho protein signal transduction Source: UniProtKB
Negative regulation of ruffle assembly Source: UniProtKB
Negative regulation of substrate adhesion-dependent cell spreading Source: UniProtKB
Positive regulation of canonical Wnt signaling pathway Source: UniProtKB
Positive regulation of Wnt signaling pathway Source: UniProtKB
Positive regulation of wound healing Source: UniProtKB
Regulation of establishment of cell polarity Source: UniProtKB
Regulation of Rho protein signal transduction Source: UniProtKB

Cellular Location

Nucleus; Cytoplasm; Ruffle membrane. Colocalizes with KIF21A in membrane ruffles (PubMed:19559006). Shuttles between the cytoplasm and nucleus (PubMed:16968744).
Isoform 1: Nucleus; Cytoplasm. Shuttles between the cytoplasm and nucleus.
Isoform 2: Nucleus; Cytoplasm. Shuttles between the cytoplasm and nucleus.

Involvement in disease

Cerebral palsy, spastic quadriplegic 2 (CPSQ2): A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly.