SH3RF1

Description

The SH3RF1 (SH3 domain containing ring finger 1) is a protein-coding gene located on chromosome 4.

SH3RF1 is a protein encoded by the SH3RF1 gene in humans. It functions as a ubiquitin-protein ligase, specifically involved in protein sorting at the trans-Golgi network. It contains a RING-finger domain, four SH3 domains, and a region that interacts with the Rho GTPase Rac. SH3RF1 acts as a scaffold protein for the c-Jun N-terminal kinase (JNK) signaling pathway, facilitating the formation of a functional signaling module. It interacts with AKT2 and MAP3K11.

SH3RF1, also known as Plenty of SH3s, RING finger protein 142, RING-type E3 ubiquitin transferase SH3RF1, SH3 domain-containing RING finger protein 1, and SH3 multiple domains protein 2, acts as an E3 ubiquitin-protein ligase. It exhibits self-ubiquitination in the absence of an external substrate and stimulates the ubiquitination of potassium channel KCNJ1, enhancing its dynamin-dependent and clathrin-independent endocytosis. SH3RF1 acts as a scaffold protein, coordinating with MAPK8IP1/JIP1 to assemble a functional multiprotein complex involving RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1, and/or MAPK9/JNK2 for the effective activation of the JNK signaling pathway. It regulates the differentiation of CD4(+) and CD8(+) T-cells, promoting T-helper 1 (Th1) cell differentiation. SH3RF1 also regulates the activation of MAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation of MAPK8/JNK1 in CD8(+) T-cells. It plays a crucial role in the migration of neocortical neurons in the developing brain, controlling proper cortical neuronal migration and the formation of proximal cytoplasmic dilation in the leading process (PCDLP) in migratory neocortical neurons by regulating the proper localization of activated RAC1 and F-actin assembly.

SH3RF1 is also known as POSH, RNF142, SH3MD2.

Associated Diseases

WES Whole Exome Sequencing