TRIM32 cDNA Clone – Tripartite Motif-Containing 32 (Human)

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]

TRIM32: Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo. Defects in TRIM32 are the cause of limb-girdle muscular dystrophy type 2H (LGMD2H); also known as muscular dystrophy Hutterite type. LGMD2H is an autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life. Defects in TRIM32 are the cause of Bardet-Biedl syndrome type 11 (BBS11). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Belongs to the TRIM/RBCC family.

Protein type: EC 6.3.2.-; EC 6.3.2.19; Ligase; Ubiquitin conjugating system; Ubiquitin ligase

Chromosomal Location of Human Ortholog: 9q33.1

Cellular Component: cytoplasm; cytosol; nucleus; striated muscle thick filament

Molecular Function: identical protein binding; myosin binding; protein binding; protein self-association; RNA binding; Tat protein binding; transcription coactivator activity; translation initiation factor binding; ubiquitin binding; ubiquitin-protein ligase activity

Biological Process: activation of NF-kappaB transcription factor; fat cell differentiation; innate immune response; negative regulation of fibroblast proliferation; negative regulation of viral transcription; positive regulation of cell cycle; positive regulation of cell growth; positive regulation of cell migration; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of neurogenesis; positive regulation of neuron differentiation; positive regulation of protein catabolic process; positive regulation of proteolysis; positive regulation of transcription factor activity; protein polyubiquitination; protein ubiquitination; protein ubiquitination during ubiquitin-dependent protein catabolic process; regulation of interferon type I production; response to UV

Disease: Bardet-biedl Syndrome 11; Muscular Dystrophy, Limb-girdle, Type 2h