DOK1

Description

The DOK1 (docking protein 1) is a protein-coding gene located on chromosome 2.

Docking protein 1 (DOK1) is a protein encoded by the DOK1 gene in humans. It is constitutively tyrosine phosphorylated in hematopoietic progenitors from chronic myelogenous leukemia (CML) patients. DOK1 may be a crucial substrate for p210(bcr/abl), a chimeric protein linked to CML. DOK1 contains a pleckstrin homology domain at its amino terminus and ten PXXP SH3 recognition motifs. It binds p120 (RasGAP) from CML cells. DOK1 is thought to play a role in mitogenic signaling.

DOK1 is an adaptor protein that plays a role in signaling pathways by bringing together different proteins. It acts as a negative regulator of insulin signaling and modulates integrin activation by competing with talin for binding to ITGB3.

DOK1 is also known as P62DOK, pp62.

Associated Diseases

• thyroid gland adenocarcinoma
• endometrial cancer
• immune deficiency, familial variable
• severe combined immunodeficiency due to CARD11 deficiency
• hyper-IgM syndrome type 3
• classic Hodgkin lymphoma
• isolated agammaglobulinemia
• severe combined immunodeficiency due to CTPS1 deficiency
• immunodeficiency, common variable, 14
• CIDEC-related familial partial lipodystrophy
• hyper-IgM syndrome type 2
• BENTA disease
• hyper-IgM syndrome type 5
• immunodeficiency, common variable, 4
• obesity due to melanocortin 4 receptor deficiency
• lung cancer
• hypoinsulinemic hypoglycemia and body hemihypertrophy