Cellular signaling by G-proteins is down-regulated by GTPase-activating proteins (GAPs), which increase the rate of GTP hydroylsis. The GTPase regulator associated with focal adhesion kinase (GRAF) has GAP activity toward Rho A and Cdc42, but not Rac1. GRAF is ubiquitously expressed with high levels in heart and brain. Expression of GRAF causes clearing of stress fibers and formation of long actin based filopodial-like extensions. Fusion of MLL with GRAF, MLL/GRAF, is included in a rare gene
CAPD2 is a regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condensed chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. It may target the condensin complex to DNA via its C-terminal domain (referenced from Swissprot).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins
The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]
Endoplasmic reticulum proteins (ERps) are widely expressed proteins and localize to the ER. ERp19, ERp29, ERp46, ERp57 and ERp72 may act as proteases, protein disulfide isomerases, thiol-disulfide oxidases, phospholipases or a combination of these. ERp19, also designated thioredoxin domain-containing protein 12 (TXNDC12), and ERp46, also designated thioredoxin domain containing 5 (TXNDC5), belong to the thioredoxin superfamily and contain a thioredoxin fold with a consensus active-site sequ
May be a transcription factor required for the apoptosis response following survival factor withdrawal from myeloid cells. Might also have a role in the development and maturation of lymphoid cells.