CYTIP

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Description

The CYTIP (cytohesin 1 interacting protein) is a protein-coding gene located on chromosome 2.

CYTIP is a protein encoded by the human CYTIP gene. It contains two leucine zipper domains and a putative nuclear targeting signal, but lacks hydrophobic regions. CYTIP is weakly expressed in resting NK and T cells.

CYTIP binds to cytohesin-1 (CYTH1) and modifies the activation of ARFs (ADP-ribosylation factors) by CYTH1. This binding may sequester CYTH1 in the cytoplasm, potentially regulating its activity.

CYTIP is also known as B3-1, CASP, CYBR, CYTHIP, HE, PSCDBP.

Associated Diseases

• type 2 diabetes mellitus
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• reticular dysgenesis
• severe combined immunodeficiency due to CD70 deficiency
• immunodeficiency 105
• severe combined immunodeficiency due to CTPS1 deficiency
• short-limb skeletal dysplasia with severe combined immunodeficiency
• immunodeficiency 18
• immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
• hyper-IgM syndrome type 3
• immunodeficiency 72 with autoinflammation
• combined immunodeficiency with skin granulomas