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Symbol MID1 contributors: mct/npt/pgu - updated : 10-10-2017
HGNC name midline 1 (Opitz/BBB syndrome)
HGNC id 7095
Corresponding disease
OGS1 Opitz-G/BBB syndrome 1
Location Xp22.2      Physical location : 10.413.349 - 10.851.809
Synonym name
  • midline 1 ring finger, micrutubule associated protein
  • tripartite motif protein TRIM18
  • putative transcription factor XPRF
  • finger on X and Y, mouse, homolog of
  • RING finger protein 59
  • midline 1 ring finger
  • Synonym symbol(s) FXY, TRIM18, BBBG1, OSX, XPRF, OGS1, MIDIN, OS, RNF59, GBBB1, MIDIN
    EC.number 6.3.2.-
    TYPE functioning gene
    STRUCTURE 438.21 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence alternative promoter
    text structure
  • 10 exons plus six untranslated 5'exons
  • 5 alternative first exons 1a,1b,1c,1d,1e
  • MAPPING cloned Y linked N status provisional
    Map pter - STS - CLCN4 - MID1 - AMELX - PRPS2 - BMX - PDHA1 - PHKA2 - PPEF1 - GK - DMD DMD - OTC OTC - cen
    Physical map
    VCX Xp22.3 variable charge, X chromosome DXS1283E Xp22.3 GS2 gene VCX-2r Xp22.32 variable charge protein on X with two repeats KAL1 Xp22.32 Kallmann syndrome 1 sequence FAM9A Xp22.32 family with sequence similarity 9, member A LOC392426 X similar to Nucleolar phosphoprotein p130 (Nucleolar 130 kDa protein) (140 kDa nucleolar phosphoprotein) (Nopp140) (Nucleolar and coiled-body phosphoprotein 1) FLJ40182 Xp22.32 hypothetical protein FLJ40182 LOC392427 X similar to chromodomain protein, Y chromosome-like isoform a; CDY-like, autosomal; testis-specific chromodomain Y-like protein TBL1X Xp22.3 transducin (beta)-like 1X-linked GPR143 APXL Xp22.31 apical protein-like (Xenopus laevis) KIAA1280 Xp22.32 KIAA1280 protein CLCN4 Xp22.31 chloride channel 4 MID1 Xp22.3 midline 1 (Opitz/BBB syndrome) HCCS Xp22.3-p22.2 holocytochrome c synthase (cytochrome c heme-lyase) ARHGAP6 Xp22.31 Rho GTPase activating protein 6 AMELX Xp22.31 amelogenin (X chromosome, amelogenesis imperfecta 1) LOC139952 Xp22.31 similar to LIM domain kinase 2 (LIMK-2) MSL3L1 Xp22.3 male-specific lethal 3-like 1 (Drosophila) KIAA0316 Xp22.2 male-specific lethal 3-like 1 (Drosophila) PRPS2 Xp22.31 phosphoribosyl pyrophosphate synthetase 2 MRPL35P4 Xq22.31 phosphoribosyl pyrophosphate synthetase 2 TLR7 Xp22.3 toll-like receptor 7 TLR8 Xp22.3 toll-like receptor 8 TMSB4X Xq21.3-q22 thymosin, beta 4, X chromosome FAM9C Xp22.32 family with sequence similarity 9, member C LOC92552 Xp22.31 similar to homologue of MJD, high homology to a genomic sequence in Xp22 LOC286478 Xp22.31 hypothetical LOC286478 LOC389839 X similar to glutathione peroxidase 1
    TRANSCRIPTS type messenger
    text six untranslated exons,differentially utilized, may be more than three transcrits, variant 1-isoform a, 2 and 3 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 6217 75 667 adipose tissu, placenta 2007 17428496
    variant 1, isoform a
    10 - 6009 75 667 ubiquitous 2007 17428496
    variant 3, isoform a
    - - 3332 61 552 ubiquitous 2007 17428496
    variant 1, isoform B
    - - 3229 - - ubiquitous 2007 17428496
    variant 1, isoform C
    - - 3199 - - adipose tissue 2007 17428496
    variant 1, isoform D
    - - 3190 - - ubiquitous 2007 17428496
    variant 1, isoform E
    10 - 6147 - 667 - 2007 17428496
    variant 4, isoform a
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouth   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    at STAGE
    physiological period fetal
    Text placenta, kidney, brain, lung, tissues, not in heart
  • N terminal RING finger
  • two B box domains, linked to a leucine coiled-coil domain (RBCC subgroup) the so-called tripartite motif (TRIM) mediating homodimerization, characteristic of the B box family of proteins, involved in cell proliferation and development
  • tripartite RBCC (RING-B box-coiled coil) region interacting with KRAB domains of ZNFs
  • a COS (C-terminal subgroup one signature) domain
  • a SCAN/KRAB domain
  • a fibronectin type III domain between the RBCC
  • the C terminal B30-2 or RFP-like domain, SRPY/PRY domain resposible of interaction with EEF1A1
  • mono polymer homomer , heteromer , dimer
    interspecies homolog to Xenopus XNF7
  • B box family (cell proliferation, development)
  • TRIM/RBCC family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
  • colocalizing with cytoplasmic fibres in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis
  • specific association of the MID1 mRNA with the microtubule-organising centre
  • basic FUNCTION
  • transcriptional regulator with E3 ubiquitin ligase activity that normally targets phosphatase 2A for degradation
  • associating with microtubules and influencing microtubule dynamics throughout the cell cycle
  • involved in body axis patterning and cell transformation
  • having a function in directing translational control to the cytoskeleton
  • function as an E3 ligase targeting the catalytic subunit of protein phosphatase 2A (PP2A-C) for ubiquitin-mediated degradation
  • CELLULAR PROCESS cell life, proliferation/growth
    nucleotide, transcription
    FRAP1/PP2R4 signaling cascade
    a component
  • component of large protein complexes
  • core of a microtubule-associated mRNP complex that links cytoskeleton-associated mRNA transport and translation control factors with members of the FRAP1/PP2R4 signaling cascade
  • heterodimer with MID2
  • MID1/PP2A axis is an important regulator of MTOR signaling and dysregulation of MTOR signaling plays a key role in the pathogenesis of Opitz syndrome
    small molecule
  • interacting with ZNF689 (KRAB-ZNF transcriptional repressor of MID1)
  • IGBP1 interacts with MID1, a microtubule-associated ubiquitin E3 ligase that appears to regulate the function of PPP2CA
  • MID1 catalyze the polyubiquitination of IGBP1, a protein regulator of protein phosphatase 2A (PPP2CA)
  • cell & other
    induced by IFN gamma and lipopolysaccharide
    corresponding disease(s) OGS1
    Variant & Polymorphism
    Candidate gene
    Therapy target