Human tripartite motif containing 11 (TRIM11) gene基因表達(dá)質(zhì)粒敲除編輯載體

RefSeq NM_001098624.2, NP_001092094.1
RefSeq Size 6147 bp
RefSeq ORF 2004 bp
Locus ID 4281
Protein Families Druggable Genome
Protein Pathways Ubiquitin mediated proteolysis
MW 75.1 kDa
Gene Summary The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. 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. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities

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