MID1

Chr Xp22.2

midline 1

Aliases:: OS, FXY, TRIM18, RNF59
MANE:: ENST00000317552.9

OMIM: 300552 ↗NCBI: 4281 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MID1 · O15344

v62025-08-01

Predicted Aligned Error matrix for MID1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.3/ 100

Confident

667 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)28%
Low(50–70)7%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

Opitz G/BBB syndrome
0.77
X-linked Opitz G/BBB syndrome
0.77
hereditary disease
0.50
Dandy-Walker syndrome
0.35
retina neoplasm
0.25
Hypertelorism
0.12
Abnormal facial shape
0.12
Agenesis of corpus callosum
0.12
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
0.12
Low-set ears
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 ubiquitin-protein ligase Midline-1

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