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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)
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
General
midline protein
phosphoprotein
ring finger protein
transcription factor (TF)
Properties
SIZE: entity length = 667 aa
MW = 75 kD
COMPARTMENT: cytoplasm
MOTIF: RING-finger {10-60}
EFFECTOR-BOUND: Zn+2
FOR-BINDING-OF: DNA motif
Ser phosphorylation site {S90}
Ser phosphorylation site {S92}
Ser phosphorylation site {S96}
Ser phosphorylation site {S98}
zinc finger B box
SITE: 116-165
EFFECTOR-BOUND: Zn+2
MOTIF: Zn+2-binding site
SITE: 119-119
Zn+2-binding site
SITE: 122-122
Zn+2-binding site
SITE: 134-134
Zn+2-binding site
SITE: 137-137
Zn+2-binding site
SITE: 142-142
Zn+2-binding site
SITE: 145-145
Zn+2-binding site
SITE: 150-150
Zn+2-binding site
SITE: 159-159
zinc finger B box
SITE: 172-212
EFFECTOR-BOUND: Zn+2
coiled coil {205-264}
COS {320-379}
fibronectin type III domain or F3 module {380-481}
B30.2/SPRY {482-659}
Database Correlations
OMIM correlations
MORBIDMAP 300552
UniProt O15344
PFAM correlations
Entrez Gene 4281
Kegg hsa:4281
References
- UniProt :accession O15344
- 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: 11685209