MID1 Gene - Midline 1 E3 Ubiquitin Ligase

Comprehensive genomic and clinical resource for MID1, associated with Opitz G/BBB syndrome and midline developmental defects.

Gene Information Card

Symbol MID1
Full Name Midline 1
Gene Type Protein coding
Chromosomal Location Xp22.2
NCBI Gene ID 4281 ncbi.nlm.nih.gov/gene/4281
Ensembl ID ENSG00000101871
UniProt ID O15344
OMIM ID 300552
HGNC ID 7095
Aliases FXY, OS, RNF59, TRIM18, XPRF

Description

The MID1 gene encodes a member of the tripartite motif (TRIM) family, functioning as a microtubule-associated E3 ubiquitin ligase. It plays a critical role in midline development during embryogenesis by regulating the degradation of the catalytic subunit of protein phosphatase 2A (PP2A). Mutations in MID1 cause X-linked Opitz G/BBB syndrome, characterized by midline defects such as hypertelorism, cleft lip/palate, and laryngotracheoesophageal abnormalities.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Opitz G/BBB syndrome, X-linked Loss-of-function mutations impair MID1-mediated ubiquitination of PP2A, disrupting microtubule dynamics and midline development. OMIM #300000; ClinVar
Intellectual disability MID1 mutations may contribute to neurodevelopmental phenotypes via altered PP2A signaling. ClinVar; literature review
Hypertelorism Midline fusion defects due to impaired MID1 function during craniofacial development. OMIM; NCBI GeneReviews

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Low
Liver 4.1 Low
Kidney 6.7 Low
Testis 15.2 Medium
Lung 5.9 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.1 Moderate expression
HeLa 7.8 Low expression
SH-SY5Y 14.3 Moderate expression
HepG2 5.2 Low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense Rare Loss of start codon, likely loss of function
c.226C>T (p.Arg76*) Nonsense Rare Premature stop, loss of function
c.1000_1001delAG (p.Arg334Glufs*12) Frameshift Rare Truncated protein, loss of function
c.1405G>A (p.Gly469Arg) Missense Rare Impaired ubiquitin ligase activity
Mutation functional classification

Loss of Function (LOF)

Most MID1 mutations are loss-of-function, leading to reduced E3 ubiquitin ligase activity and accumulation of PP2A, disrupting microtubule dynamics.

Gain of Function (GOF)

No gain-of-function mutations have been reported for MID1.

Dominant Negative (DN)

Dominant-negative effects are not established; MID1 is X-linked and typically manifests in males with hemizygous mutations.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/4281
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MID1

Gene Ontology (GO)

• ubiquitin-protein transferase activity (GO:0004842) • protein binding (GO:0005515)
• microtubule binding (GO:0008017) • protein ubiquitination (GO:0016567)
• proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161) • embryonic skeletal system morphogenesis (GO:0048704)

Pathways

• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• PP2A regulation via MID1 (Reactome: R-HSA-5658442)

Protein Summary

The MID1 protein (UniProt O15344) is a 667-amino acid E3 ubiquitin ligase containing a RING finger domain, B-box zinc fingers, and a coiled-coil region. It localizes to microtubules and targets the catalytic subunit of protein phosphatase 2A (PP2A-C) for ubiquitination and proteasomal degradation. This regulation is essential for proper microtubule dynamics and midline development. Loss of MID1 function leads to accumulation of PP2A, disrupting cell signaling and causing midline defects characteristic of Opitz G/BBB syndrome.

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Related Products

Product name Cat.No. Species Gene ID
EMID1 Knockout HEK293 Cell Line EDJ-KQ9209 Human 129080 Details Get a Quote
MID1IP1 Knockout HEK293 Cell Line EDJ-KQ11147 Human 58526 Details Get a Quote
EMID1 Knockout HCT 116 Cell Line EDJ-KQ35765 Human 129080 Details Get a Quote
MID1IP1 Knockout A-549 Cell Line EDJ-KQ40392 Human 58526 Details Get a Quote
MID1IP1 Knockout HCT 116 Cell Line EDJ-KQ40394 Human 58526 Details Get a Quote
MID1IP1 Knockout HeLa Cell Line EDJ-KQ40395 Human 58526 Details Get a Quote
MID1 Knockout HEK293 Cell Line EDJ-KQ50441 Human 4281 Details Get a Quote
MID1 Knockout HeLa Cell Line EDJ-KQ53872 Human 4281 Details Get a Quote
EMID1 Knockout HeLa Cell Line EDJ-KQ58260 Human 129080 Details Get a Quote
MID1 Knockout A-549 Cell Line EDJ-KQ62362 Human 4281 Details Get a Quote
EMID1 Knockout A-549 Cell Line EDJ-KQ66747 Human 129080 Details Get a Quote
MID1 Knockout HCT 116 Cell Line EDJ-KQ70832 Human 4281 Details Get a Quote
Displaying Records 1 To 12 Of 12 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/4281
OMIM https://www.omim.org/entry/300552
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7095
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101871
UniProt https://www.uniprot.org/uniprot/O15344
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=MID1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MID1
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