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MGP001925

UniProt Annotations

Entry Information

Gene Name	midline 1
Protein Entry
UniProt ID
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Alpha; IsoId=O15344-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O15344-2; Sequence=VSP_005735;
Disease	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, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects. {ECO:0000269\|PubMed:11030761, ECO:0000269\|PubMed:15558842, ECO:0000269\|PubMed:9354791, ECO:0000269\|PubMed:9718340}. Note=The disease is caused by mutations affecting the gene represented in this entry. MID1 mutations produce proteins with a decreased affinity for microtubules.
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. {ECO:0000269\|PubMed:10400985, ECO:0000269\|PubMed:11685209, ECO:0000269\|PubMed:22613722}.
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. {ECO:0000269\|PubMed:11806752, ECO:0000269\|PubMed:21406692}.
Similarity	Belongs to the TRIM/RBCC family. {ECO:0000305}.
Similarity	Contains 1 B30.2/SPRY domain. {ECO:0000255\|PROSITE- ProRule:PRU00548}.
Similarity	Contains 1 COS domain. {ECO:0000255\|PROSITE- ProRule:PRU00586}.
Similarity	Contains 1 fibronectin type-III domain. {ECO:0000255\|PROSITE-ProRule:PRU00316}.
Similarity	Contains 1 RING-type zinc finger. {ECO:0000255\|PROSITE-ProRule:PRU00175}.
Similarity	Contains 2 B box-type zinc fingers. {ECO:0000255\|PROSITE-ProRule:PRU00024}.
Subcellular Location	Cytoplasm {ECO:0000269\|PubMed:10077590}. Cytoplasm, cytoskeleton {ECO:0000269\|PubMed:10077590}. Cytoplasm, cytoskeleton, spindle {ECO:0000269\|PubMed:10077590}. 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.
Subunit	Homodimer or heterodimer with MID2. Interacts with IGBP1. {ECO:0000269\|PubMed:11806752, ECO:0000269\|PubMed:22613722}.
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.