WIPF1 Gene

The WIPF1 gene (WIPF1 stands for "WAS/WASL Interacting Protein Family Member 1") is a protein-coding gene located on chromosome 2q31.1.

The WIPF1 gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The protein binds to a region of the Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome. Impairment of the interaction between these two proteins appears to be etiologically significant for this disease. Two transcript variants encoding the same protein have been identified for this gene.

WIPF1 protein plays a role in actin cytoskeleton reorganization. Contributes to the recruitment and activation of WASL together with NCK1 and GRB2. Plays an important role in vaccinia virus intracellular motility by acting as an adaptor for WASL recruitment to vaccinia virus.

Diseases associated with WIPF1 include.

• Wiskott-Aldrich syndrome 2 (614493)
• and
• Wiskott-Aldrich syndrome.

Associated pathways include regulation of actin dynamics for phagocytic cup formation and immune response CD16 signaling in NK cells.

1. Al-Mousa H et al. (2017) Hematopoietic stem cell transplantation corrects WIP deficiency. (Letter) J Allergy Clin. Immun 139: 1039-1040.
2. Conley ME et al (1992) Atypical Wiskott-Aldrich syndrome in a girl. Blood 80: 1264-1269.
3. Lanzi G et al (2012) A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med 209: 29-34.