Description: Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 6, mRNA. RefSeq Summary (NM_001193278): 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. [provided by RefSeq, Dec 2016]. Transcript (Including UTRs) Position: hg19 chrX:10,437,305-10,535,643 Size: 98,339 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chrX:10,437,552-10,535,587 Size: 98,036 Coding Exon Count: 7
ID:TRI18_HUMAN DESCRIPTION: RecName: Full=Midline-1; EC=6.3.2.-; AltName: Full=Midin; AltName: Full=Midline 1 RING finger protein; AltName: Full=Putative transcription factor XPRF; AltName: Full=RING finger protein 59; AltName: Full=Tripartite motif-containing protein 18; FUNCTION: Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination. SUBUNIT: Homodimer or heterodimer with MID2. Interacts with IGBP1. SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Note=Microtubule-associated. It is associated with microtubules throughout the cell cycle, co- localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis. TISSUE SPECIFICITY: In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain. INDUCTION: A retroviral element acts as an alternative tissue- specific promoter for this gene. The LTR of an HERV-E element enhances the expression in placenta and embryonic kidney. PTM: Phosphorylated on serine and threonine residues. DISEASE: Defects in MID1 are the cause of Opitz GBBB syndrome 1 (OGS1) [MIM:300000]. A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate- laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. Note=MID1 mutations produce proteins with a decreased affinity for microtubules. SIMILARITY: Belongs to the TRIM/RBCC family. SIMILARITY: Contains 2 B box-type zinc fingers. SIMILARITY: Contains 1 B30.2/SPRY domain. SIMILARITY: Contains 1 COS domain. SIMILARITY: Contains 1 fibronectin type-III domain. SIMILARITY: Contains 1 RING-type zinc finger. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MID1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O15344
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
