midline-1; midin; midline 1 RING finger protein; transcription factor XPRF; RING finger protein 59; tripartite motif-containing protein 18 (MID1, FXY, RNF59, TRIM18, XPRF)
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Function
- may have E3 ubiquitin ligase activity
- targets catalytic subunit of protein phosphatase 2A for degradation
- interacts with alpha 4 protein which binds PP2A
- phosphorylated on Ser & Thr
- homodimer or heterodimer with MID2.
- interacts with IGBP1
Structure
- belongs to the TRIM/RBCC family
- contains 2 B box-type Zn+2 fingers
- contains 1 B30.2/SPRY domain
- contains 1 COS domain
- contains 1 fibronectin F3 module
- contains 1 RING-type Zn+2 finger
Compartment
- cytoplasm. cytoplasm, cytoskeleton, spindle
- microtubule-associated
- associated with microtubules throughout the cell cycle, colocalizing with cytoplasmic fibers in interphase & with the mitotic spindle & midbodies during mitosis & cytokinesis
Alternative splicing
named isoforms=2
Expression
- in the fetus
- highest expression found in kidney
- lesser expression in brain & lung
- expressed at low levels in fetal liver
- in the adult, most abundant in heart, placenta & brain
- 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 & embryonic kidney
Pathology
- defects in MID1 are the cause of Opitz syndrome type 1
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O15344.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MID1
- ↑ Trockenbacher A et al. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nature Genetics 29:287-294, 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11685209