ANKRD1


Description

The ANKRD1 (ankyrin repeat domain 1) is a protein-coding gene located on chromosome 10.

Ankyrin repeat domain-containing protein 1 (ANKRD1), also known as Cardiac ankyrin repeat protein (CARP), is a protein encoded by the ANKRD1 gene. CARP is highly expressed in cardiac and skeletal muscle, and functions as a transcription factor involved in development and under stress conditions. It is composed of 319 amino acids and contains five tandem ankyrin repeats. CARP can form homodimers and exists in multiple alternatively spliced forms in cardiomyocytes. Studies indicate that it can be cleaved by calpain-3 in skeletal muscle, suggesting the existence of alternate bioactive forms. It is localized to the nuclei and Z-discs of muscle cells, and at intercalated discs in cardiac muscle cells. CARP was originally identified as a YB-1-associating, cardiac-restricted transcription co-repressor in the NKX2-5 pathway, which is involved in cardiac ventricular chamber specification, maturation, and morphogenesis. Its mRNA levels are sensitive to Doxorubicin, potentially through a hydrogen peroxide/ERK/p38MAP kinase-dependent as well as M-CAT cis-element-dependent mechanism. CARP expression in cardiomyocytes is regulated by alpha-adrenergic signaling, partially through the transcription factor GATA4. Additionally, beta-adrenergic signaling via protein kinase A and CaM kinase induces CARP expression, suggesting a possible negative effect on contractile function.

ANKRD1 is also known as ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2.

Associated Diseases


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