HT2A Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 9q33.1

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

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

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

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