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MID1 Gene

protein-coding   GIFtS: 66
GCID: GC0XM010373

Midline 1 (Opitz/BBB Syndrome)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Midline 1 (Opitz/BBB Syndrome)1 2     OSX2 5
FXY2 3 5     GBBB12
Putative Transcription Factor XPRF2 3     MIDIN2
Tripartite Motif-Containing Protein 182 3     OS2
RNF592 3     ZNFXY2
TRIM182 3     E3 Ubiquitin-Protein Ligase Midline-12
XPRF2 3     Midline 1 RING Finger Protein2
RING Finger Protein 592 3     Tripartite Motif Protein TRIM182
RING Finger Protein Midline-12 3     Zinc Finger On X And Y, Mouse, Homolog Of2
BBBG12 5     EC 6.3.2.-3
OGS12 5     Midin3

External Ids:    HGNC: 70951   Entrez Gene: 42812   Ensembl: ENSG000001018717   OMIM: 3005525   UniProtKB: O153443   

Export aliases for MID1 gene to outside databases

Previous GC identifers: GC0XM009445 GC0XM009230 GC0XM009760 GC0XM009827 GC0XM009825 GC0XM010225 GC0XM008245


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MID1 Gene:
The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B
box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a
RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate
with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures
acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of
Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart
defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject
to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by
alternate splicing; however, the full-length nature of some of the variants has not been determined. (provided by
RefSeq, Jul 2010)

GeneCards Summary for MID1 Gene:
MID1 (midline 1 (Opitz/BBB syndrome)) is a protein-coding gene. Diseases associated with MID1 include laryngeal cleft, and opitz-gbbb syndrome. GO annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is TRIM13.

UniProtKB/Swiss-Prot: TRI18_HUMAN, O15344
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

Gene Wiki entry for MID1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MID1 gene promoter:
         AP-1   ATF-2   c-Jun   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMID1 promoter sequence
   Search Chromatin IP Primers for MID1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MID1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

MID1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MID1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM010373:  view genomic region     (about GC identifiers)

Start:
10,413,350 bp from pter      End:
10,851,809 bp from pter
Size:
438,460 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TRI18_HUMAN, O15344 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase Midline-1  
Size: 667 amino acids; 75251 Da
Subunit: Homodimer or heterodimer with MID2. Interacts with IGBP1
3 PDB 3D structures from and Proteopedia for MID1:
2DQ5 (3D)        2FFW (3D)        2JUN (3D)    
Secondary accessions: B2RCG2 O75361 Q9BZX5
Alternative splicing: 2 isoforms:  O15344-1   O15344-2   

Explore the universe of human proteins at neXtProt for MID1: NX_O15344

Explore proteomics data for MID1 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine and threonine residues1
  • Ubiquitination2 at Lys232
  • Modification sites at PhosphoSitePlus

  • See MID1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_000372.1  NP_001092094.1  NP_001180206.1  NP_001180207.1  NP_001180208.1  NP_001180209.1  NP_001180210.1  NP_150631.1  
    NP_150632.1  

    ENSEMBL proteins: 
     ENSP00000370156   ENSP00000370157   ENSP00000370162   ENSP00000370164   ENSP00000370159  
     ENSP00000391154   ENSP00000387771   ENSP00000414521   ENSP00000312678  

    MID1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for MID1
    OriGene Protein Over-expression Lysate for MID1
    OriGene MassSpec for MID1
    OriGene Custom Protein Services for MID1
    GenScript Custom Purified and Recombinant Proteins Services for MID1
    Novus Biologicals MID1 Protein
    Novus Biologicals MID1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MID1

    MID1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for MID1
    OriGene Custom Antibody Services for MID1
    Novus Biologicals MID1 Antibodies
    Abcam antibodies for MID1
    Cloud-Clone Corp. Antibodies for MID1
    Search ThermoFisher Antibodies for MID1
    LSBio Antibodies in human, mouse, rat for MID1

    MID1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MID1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MID1
    Cloud-Clone Corp. CLIAs for MID1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    TRIM: Tripartite motif containing / Tripartite motif containing
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 15):
     IPR001841 Znf_RING
     IPR001870 B30.2/SPRY
     IPR017903 COS_domain
     IPR003961 Fibronectin_type3
     IPR027727 MID1/MID2

    Graphical View of Domain Structure for InterPro Entry O15344

    ProtoNet protein and cluster: O15344

    5 Blocks protein domains:
    IPB000315 B-box zinc finger signature
    IPB001841 Zn-finger
    IPB003649 B-box
    IPB003879 Butyrophylin C-terminal DUF signature
    IPB006574 SPRY-associated domain


    UniProtKB/Swiss-Prot: TRI18_HUMAN, O15344
    Similarity: Belongs to the TRIM/RBCC family
    Similarity: Contains 2 B box-type zinc fingers
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 COS domain
    Similarity: Contains 1 fibronectin type-III domain
    Similarity: Contains 1 RING-type zinc finger


    MID1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRI18_HUMAN, O15344
    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
    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

         Genatlas biochemistry entry for MID1:
    midline 1,transcriptional regulator,midin,ubiquitously expressed,with alternatively spliced isoforms,forming large
    protein complexes,associating with microtubules and influencing microtubule dynamics throughout the cell
    cycle,colocalizing with cytoplasmic fibres in interphase and with the mitotic spindle and midbodies during
    mitosis and cytokinesis,involved in body axis patterning and cell transformation,homologous to Xenopus XNF7,B box
    family

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008017microtubule binding IMP11806752
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
    GO:0031625ubiquitin protein ligase binding IPI17438131
         
    MID1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MID1:
     Decreased Wnt reporter activit  Increased cilium length after   Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mid1):
     behavior/neurological  embryogenesis  growth/size/body  mortality/aging  muscle 
     nervous system  normal 

    MID1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mid1tm1Mero for MID1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MID1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MID1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MID1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MID1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MID1:
    hsa-mir-18a-5p (MIRT031316), hsa-mir-149-5p (MIRT045601), hsa-mir-130b-5p (MIRT038328)

    Block miRNA regulation of human, mouse, rat MID1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MID1 (see all 91):
    hsa-miR-576-3p hsa-miR-3607-3p hsa-miR-4254 hsa-miR-106a hsa-miR-3653 hsa-miR-374a hsa-miR-519a hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidMID1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MID1
    Predesigned siRNA for gene silencing in human, mouse, rat MID1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MID1

    Clone
    Products:
         
    OriGene clones in human, mouse for MID1 (see all 36)
    OriGene ORF clones in mouse, rat for MID1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 9): MID1 (NM_001098624)
    Sino Biological Human cDNA Clone for MID1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MID1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MID1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MID1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MID1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MID1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRI18_HUMAN, O15344: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle.
    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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005819spindle IEA--
    GO:0005874microtubule IDA11806752
    GO:0005875microtubule associated complex TAS10077590
    GO:0005881colocalizes with cytoplasmic microtubule IDA18949047

    MID1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MID1 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for MID1):
        Ubiquitin mediated proteolysis


    MID1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MID1: 
              Cytoskeleton Regulators in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MID1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for MID1 (O153443 ENSP000003126784) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGBP1P783183, ENSP000003487844I2D: score=4 STRING: ENSP00000348784
    MID1IP1Q9NPA33, ENSP000003387064I2D: score=2 STRING: ENSP00000338706
    PPP2R1AP301533, ENSP000003248044I2D: score=2 STRING: ENSP00000324804
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    UBE2D3P610773, ENSP000003497224I2D: score=2 STRING: ENSP00000349722
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization TAS10077590
    GO:0007389pattern specification process TAS9354791
    GO:0032874positive regulation of stress-activated MAPK cascade IMP17438131
    GO:0035372protein localization to microtubule IMP11806752

    MID1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MID1 (TRI18)

    4 HMDB Compounds for MID1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MID1 gene (10 alternative transcripts): 
    NM_000381.3  NM_001098624.2  NM_001193277.1  NM_001193278.1  NM_001193279.1  NM_001193280.1  NM_001193281.1  NM_033289.1  
    NM_033290.3  NM_033291.1  

    Unigene Cluster for MID1:

    Midline 1 (Opitz/BBB syndrome)
    Hs.27695  [show with all ESTs]
    Unigene Representative Sequence: NM_000381
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380779 ENST00000380780(uc004cug.1) ENST00000380785 ENST00000380787
    ENST00000380782 ENST00000479925 ENST00000413894(uc004ctl.2 uc010ndx.2 uc004ctp.1 uc004ctq.1 uc004ctr.1 uc010ndu.1 uc010ndv.1 uc010ndw.1 uc004cts.1 uc004ctz.1 uc004ctm.2 uc004ctn.2 uc004cto.2 uc004ctt.3 uc004ctu.3 uc004ctv.3 uc004ctw.3 uc010ndy.2 uc004cty.3 uc004cua.1 uc004cub.1 uc004cuc.1 uc004cud.1)
    ENST00000423614 ENST00000453318(uc004csz.4 uc004cta.4 uc004ctb.4 uc004ctc.4 uc004ctd.4 uc004cte.4 uc004ctk.4 uc011mie.1 uc004cti.4)
    ENST00000317552(uc004ctg.4 uc004cth.4 uc004ctj.4)
    miRNA
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    Block miRNA regulation of human, mouse, rat MID1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MID1 (see all 91):
    hsa-miR-576-3p hsa-miR-3607-3p hsa-miR-4254 hsa-miR-106a hsa-miR-3653 hsa-miR-374a hsa-miR-519a hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidMID1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MID1
    Predesigned siRNA for gene silencing in human, mouse, rat MID1
    Clone
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    OriGene ORF clones in mouse, rat for MID1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 9): MID1 (NM_001098624)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MID1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MID1
    Primer
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    OriGene qPCR primer pairs and template standards for MID1
    OriGene qSTAR qPCR primer pairs in human, mouse for MID1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MID1
      QuantiTect SYBR Green Assays in human, mouse, rat MID1
      QuantiFast Probe-based Assays in human, mouse, rat MID1

    Additional mRNA sequence: 

    AF035360.1 AF041206.1 AF041208.1 AF041210.1 AF230976.1 AF230977.1 AK025187.1 AK226104.1 
    AK291215.1 AK297205.1 AK315095.1 AY112900.2 AY112901.2 AY112903.2 AY539962.1 AY539963.1 
    AY539964.1 AY539965.1 AY539966.1 AY539967.1 AY539968.1 AY539969.1 AY539970.1 AY539971.1 
    AY539972.1 AY539973.1 AY539974.1 AY539975.1 AY539976.1 AY539977.1 AY539978.1 AY539979.1 
    AY539980.1 AY539981.1 AY539982.1 AY539983.1 AY539984.1 AY539985.1 AY539986.1 AY539987.1 
    AY539988.1 AY539989.1 AY539991.1 AY539992.1 AY539993.1 AY539994.1 AY539995.1 AY539996.1 
    AY539997.1 AY539998.1 AY539999.1 AY540000.1 AY540001.1 AY540002.1 AY540003.1 AY540004.1 
    AY540006.1 AY540007.1 AY540008.1 AY540009.1 AY540010.1 AY540011.1 AY540012.1 AY540013.1 
    AY540014.1 AY540015.1 AY540016.1 AY540017.1 AY540018.1 AY540019.1 AY540021.1 AY540022.1 
    AY540023.1 AY540024.1 BC053626.1 EF217423.1 EF217424.1 EF217425.1 EF217426.1 EF532594.1 
    EF532595.1 EF532596.1 Y13667.1 

    Selected DOTS entries (see all 28):

    DT.121283739  DT.415087  DT.92430813  DT.102835570  DT.100786076  DT.99942384  DT.100786075  DT.75117921 
    DT.91642170  DT.99927632  DT.121283629  DT.102835569  DT.102835584  DT.99953081  DT.92430816  DT.92027059 
    DT.102835555  DT.102835559  DT.102835571  DT.102835579  DT.102835581  DT.102835586  DT.102835583  DT.100786077 

    15 AceView cDNA sequences:

    AY539977 AY540021 CF994401 BX501848 BG215573 BF204562 AF269101 AY540007 
    AV732870 AF041209 AY539991 AY539992 AY539965 AI239579 CB992432 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MID1 (see all 27)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a ·
    SP1:        -     -                                         -     -     -     -     -     -           -     -     -     -     -     -     -                 -   
    SP2:                                                                                      -           -     -     -     -     -     -     -                 -   
    SP3:                                                                                                                                      -                 -   
    SP4:                                                        -     -     -     -     -     -           -     -     -     -                 -                 -   
    SP5:                                                                                                                                                            

    ExUns: 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
    SP1:  -     -     -                 -     -                           
    SP2:  -     -     -                 -     -                           
    SP3:  -     -     -                 -     -                           
    SP4:  -     -     -                                                   
    SP5:        -     -                 -     -                           


    ECgene alternative splicing isoforms for MID1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MID1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTAGTAGAG
    MID1 Expression
    About this image


    MID1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Pharynx
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Kidney (Urinary System)
             Metanephros
    MID1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MID1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.27695

    UniProtKB/Swiss-Prot: TRI18_HUMAN, O15344
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MID1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MID1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mid11 , 5 midline 11, 5 88.71(n)1
    95.2(a)1
      X (79.19 cM)5
    173181  NM_010797.21  NP_034927.21 
     1696851995 
    chicken
    (Gallus gallus)
    Aves MID11 midline 1 (Opitz/BBB syndrome) 84.43(n)
    95.35(a)
      373920  NM_204129.1  NP_989460.1 
    lizard
    (Anolis carolinensis)
    Reptilia MID16
    midline 1 (Opitz/BBB syndrome)
    96(a)
    1 ↔ 1
    3(119078938-119346275)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.133882 Xenopus laevis transcribed sequence with strong similarity more 79.42(n)    BJ051691.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mid11 midline 1 (Opitz/BBB syndrome) 73.97(n)
    80.36(a)
      100330952  XM_002663432.3  XP_002663478.1 


    ENSEMBL Gene Tree for MID1 (if available)
    TreeFam Gene Tree for MID1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MID1 gene
    TRIM132  FSD1L2  TRIM462  TRIM632  TRIM592  TRIM92  TRIM672  TRIM362  
    TRIM552  MID22  TRIM542  FSD12  
    6 SIMAP similar genes for MID1 using alignment to 3 protein entries:     TRI18_HUMAN (see all proteins):
    MID2    TRIM39    TRIM5    TRIM67    FSD1    TRIM46

    MID1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MID1 (see all 4891)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289346111,2,,4
    COpitz GBBB syndrome 1 (OGS1)4 pathogenic110381942(-) CCACCC/TCTACA 10 P L mis1 ese30--------
    VAR_0254954
    Opitz GBBB syndrome 1 (OGS1)4--see VAR_0254952 L P mis40--------
    VAR_0137614
    Opitz GBBB syndrome 1 (OGS1)4--see VAR_0137612 I T mis40--------
    VAR_0137584
    Opitz GBBB syndrome 1 (OGS1)4--see VAR_0137582 C R mis40--------
    rs1048948661,2
    Cpathogenic110415056(-) CAAACC/TGGCTC 16 P L mis10--------
    rs1048948651,2
    Cpathogenic110499657(-) CCGCCG/TAGAAG 18 E * stg10--------
    rs66549231,2
    H--8245276(+) TTGCAG/AAAAAG 3 -- ds50014Minor allele frequency- A:0.00NS EA 414
    rs169861411,2
    C,F,H--10377266(+) AGTCAT/CGTTAA 5 -- ds50019Minor allele frequency- C:0.03NA NS EA WA CSA 563
    rs1421063991,2
    C--10377448(+) CCAAAG/TATTCT 5 -- ds50010--------
    rs1507527391,2
    C--10377453(+) GATTCC/TGATCA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for MID1 (10413350 - 10663350 bp, first 250kb of MID1)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MID1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670028CNV Deletion23128226
    esv22291CNV Loss19812545
    nsv819623CNV Gain19587683
    dgv500n21CNV Gain19592680

    Human Gene Mutation Database (HGMD): MID1
    Locus Specific Mutation Databases (LSDB): MID1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 300552   
    OMIM disorders: 300000  
    UniProtKB/Swiss-Prot: TRI18_HUMAN, O15344
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry. MID1 mutations
    produce proteins with a decreased affinity for microtubules

  • Selected diseases for MID1 (see all 27):    
    About MalaCards
    laryngeal cleft    opitz-gbbb syndrome    opitz gbbb syndrome, type i    x-linked opitz g/bbb syndrome
    laryngitis    laryngotracheitis    hypospadias    cleft lip
    argininosuccinic aciduria    sialuria    canavan disease    cherubism
    infantile refsum disease    imperforate anus    refsum disease    dysphagia
    developmental disabilities    congenital heart defect    familial mediterranean fever    cleft palate

    2 diseases from the University of Copenhagen DISEASES database for MID1:
    Sialuria     Argininosuccinic aciduria

    MID1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for MID1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anomaly congenital multiple 65.9 1 18949047 (1)
    genetic disorder 44.6 1 12408967 (1)
    developmental disabilities 37.7 1 11806752 (1)

    Genatlas disease: MID1
    midline 1,Opitz-G syndrome 1 including the BBB syndrome,characterized by dysplasia of the corpus callosum
    hypertelorism,cleft lip/palate,dysphagia and laryngotracheo-esophageal fistulas,hoarse
    cry,hypospadias,imperforate anus,developmental delay and other anomalies

    GeneTests: MID1
    GeneReviews: MID1
    Genetic Association Database (GAD): MID1
    Human Genome Epidemiology (HuGE) Navigator: MID1 (11 documents)

    Export disorders for MID1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MID1 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with MID1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. (PubMed id 9354791)1, 2, 3, 9 Quaderi N.A....Ballabio A. (Nat. Genet. 1997)
    2. The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome. (PubMed id 9425238)1, 2, 3 Perry J.... Ashworth A. (Hum. Mol. Genet. 1998)
    3. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. (PubMed id 10400985)1, 2, 9 Cainarca S.... Meroni G. (Hum. Mol. Genet. 1999)
    4. The Opitz syndrome gene product, MID1, associates with microtubules. (PubMed id 10077590)1, 2, 9 Schweiger S....Ropers H.H. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    5. MID1 and MID2 homo- and heterodimerise to tether the rapamycin- sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. (PubMed id 11806752)1, 2, 9 Short K.M.... Cox T.C. (BMC Cell Biol. 2002)
    6. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. (PubMed id 11685209)1, 2, 9 Trockenbacher A.... Schweiger S. (Nat. Genet. 2001)
    7. Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B- box with a RING. (PubMed id 16529770)1, 2, 9 Massiah M.A.... Cox T.C. (J. Mol. Biol. 2006)
    8. Monoubiquitination promotes calpain cleavage of the protein phosphatase 2A (PP2A) regulatory subunit alpha4, altering PP2A stability and microtubule-associated protein phosphorylation. (PubMed id 22613722)1, 2 Watkins G.R.... Wadzinski B.E. (J. Biol. Chem. 2012)
    9. Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study. (PubMed id 19049519)1, 4 Scapoli L....Carinci F. (Eur. J. Oral Sci. 2008)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4281 HGNC: 7095 AceView: MID1.1 Ensembl:ENSG00000101871 euGenes: HUgn4281
    ECgene: MID1 Kegg: 4281 H-InvDB: MID1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MID1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MID1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MID1 gene:
    Search GeneIP for patents involving MID1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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