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This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glyc

The mammalian exocyst complex (sec 6/8) is a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Sec 5 is one of eight exocyst complex subunits: Sec3, Sec5, Sec6, Sec8, Sec10, Sec15, Exo70, and Exo84. Exocyst complex regulation depends upon Sec5 binding Ral in a GTP-dependent manner. Human Sec5 maps to chromosome 6p25.3.

The covalent conjugation of ubiquitin to proteins regulates diverse cellular pathways and proteins. Ubiquitin is transferred to a target protein through a concerted action of a ubiquitin-activating enzyme (E1), a ubiquitin-conjugating enzyme (E2), such as UBE2T, and a ubiquitin ligase (E3) (Machida et al., 2006 [PubMed 16916645]).[supplied by OMIM, Mar 2008]

May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake.

IKZF3 belongs to the Ikaros family of zinc-finger proteins. Members of this family are transcription factors that play an important role in the regulation of lymphocyte differentiation. They are involved in the control of gene expression and when associated with nuclear complexes, participate in nucleosome remodeling. IKZF3 is important in the regulation of B lymphocyte proliferation and differentiation.

The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. The mammalian HOX gene complex consists of 39 genes that are located on 4 linkage groups, which are dispersed over 4 chromosomes. HOX genes that occupy the same relative position along the 5’ to 3’