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Aliases for MID1 Gene

Aliases for MID1 Gene

  • Midline 1 2 3
  • FXY 3 4 6
  • Tripartite Motif-Containing Protein 18 3 4
  • Putative Transcription Factor XPRF 3 4
  • RING Finger Protein Midline-1 3 4
  • RING Finger Protein 59 3 4
  • Opitz/BBB Syndrome 2 3
  • TRIM18 3 4
  • MIDIN 3 4
  • BBBG1 3 6
  • RNF59 3 4
  • OGS1 3 6
  • XPRF 3 4
  • OSX 3 6
  • Zinc Finger On X And Y, Mouse, Homolog Of 3
  • E3 Ubiquitin-Protein Ligase Midline-1 3
  • Tripartite Motif Protein TRIM18 3
  • Midline 1 RING Finger Protein 3
  • EC 6.3.2.- 4
  • GBBB1 3
  • ZNFXY 3
  • OS 3

External Ids for MID1 Gene

Previous GeneCards Identifiers for MID1 Gene

  • GC0XM009445
  • GC0XM009230
  • GC0XM009760
  • GC0XM009827
  • GC0XM009825
  • GC0XM010225
  • GC0XM008245

Summaries for MID1 Gene

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) is a Protein Coding gene. Diseases associated with MID1 include opitz gbbb syndrome, type i and opitz-gbbb syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin protein ligase binding and ligase activity. An important paralog of this gene is FSD1L.

UniProtKB/Swiss-Prot for MID1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MID1 Gene

Genomics for MID1 Gene

Regulatory Elements for MID1 Gene

Genomic Location for MID1 Gene

Start:
10,445,310 bp from pter
End:
10,833,710 bp from pter
Size:
388,401 bases
Orientation:
Minus strand

Genomic View for MID1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MID1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MID1 Gene

Proteins for MID1 Gene

  • Protein details for MID1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15344-TRI18_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase Midline-1
    Protein Accession:
    O15344
    Secondary Accessions:
    • B2RCG2
    • O75361
    • Q9BZX5

    Protein attributes for MID1 Gene

    Size:
    667 amino acids
    Molecular mass:
    75251 Da
    Quaternary structure:
    • Homodimer or heterodimer with MID2. Interacts with IGBP1.

    Three dimensional structures from OCA and Proteopedia for MID1 Gene

    Alternative splice isoforms for MID1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MID1 Gene

Proteomics data for MID1 Gene at MOPED

Post-translational modifications for MID1 Gene

No data available for DME Specific Peptides for MID1 Gene

Domains for MID1 Gene

Gene Families for MID1 Gene

HGNC:
  • FN3 :Fibronectin type III domain containing
  • RNF :RING-type (C3HC4) zinc fingers
  • TRIM :Tripartite motif containing / Tripartite motif containing

Suggested Antigen Peptide Sequences for MID1 Gene

Graphical View of Domain Structure for InterPro Entry

O15344

UniProtKB/Swiss-Prot:

TRI18_HUMAN :
  • O15344
Domain:
  • Contains 1 B30.2/SPRY domain.
  • Contains 1 COS domain.
  • Contains 1 fibronectin type-III domain.
Family:
  • Belongs to the TRIM/RBCC family.
Similarity:
  • Contains 2 B box-type zinc fingers.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with MID1: view

Function for MID1 Gene

Molecular function for MID1 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for MID1 Gene

Gene Ontology (GO) - Molecular Function for MID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19549727
GO:0008017 microtubule binding IMP 11806752
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 17438131
genes like me logo Genes that share ontologies with MID1: view
genes like me logo Genes that share phenotypes with MID1: view

Animal Models for MID1 Gene

MGI Knock Outs for MID1:

Animal Model Products

miRNA for MID1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MID1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for MID1 Gene

Localization for MID1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MID1 Gene

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
Jensen Localization Image for MID1 Gene COMPARTMENTS Subcellular localization image for MID1 gene
Compartment Confidence
cytoskeleton 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
GO:0005874 microtubule IDA 11806752
genes like me logo Genes that share ontologies with MID1: view

Pathways for MID1 Gene

genes like me logo Genes that share pathways with MID1: view

Pathways by source for MID1 Gene

1 KEGG pathway for MID1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization TAS 10077590
GO:0007026 negative regulation of microtubule depolymerization IEA --
GO:0007389 pattern specification process TAS 9354791
GO:0008152 metabolic process IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with MID1: view

Compounds for MID1 Gene

(4) HMDB Compounds for MID1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with MID1: view

Transcripts for MID1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MID1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MID1 Gene

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:
SP6:
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - -
SP9: - - - - - - - - - - -
SP10:
SP11:
SP12: - - - - - - - - - - - - -
SP13: - -
SP14: - - - - - - - - - - - - - -
SP15: - - - -
SP16: - - - - - - - -
SP17: - - - - -
SP18: - - - - - - -
SP19:
SP20:
SP21: -
SP22:
SP23: -
SP24: - -
SP25:
SP26: -
SP27: - -

ExUns: 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11: - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

Relevant External Links for MID1 Gene

GeneLoc Exon Structure for
MID1
ECgene alternative splicing isoforms for
MID1

Expression for MID1 Gene

mRNA expression in normal human tissues for MID1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MID1 Gene

SOURCE GeneReport for Unigene cluster for MID1 Gene Hs.27695

mRNA Expression by UniProt/SwissProt for MID1 Gene

O15344-TRI18_HUMAN
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
genes like me logo Genes that share expressions with MID1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MID1 Gene

Orthologs for MID1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MID1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MID1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MID1 35
  • 92.2 (n)
  • 98.8 (a)
MID1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MID1 35
  • 94 (n)
  • 98.8 (a)
MID1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm21857 36
  • 90 (a)
OneToMany
Mid1 35
  • 88.71 (n)
  • 95.2 (a)
Mid1 16
Mid1 36
  • 93 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MID1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MID1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mid1 35
  • 92.05 (n)
  • 99.1 (a)
chicken
(Gallus gallus)
Aves MID1 35
  • 84.43 (n)
  • 95.35 (a)
MID1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MID1 36
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13388 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mid1 35
  • 79.68 (n)
  • 92.94 (a)
zebrafish
(Danio rerio)
Actinopterygii mid1 35
  • 73.97 (n)
  • 80.36 (a)
mid1 36
  • 79 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for MID1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MID1 Gene

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

Paralogs for MID1 Gene

Selected SIMAP similar genes for MID1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MID1: view

Variants for MID1 Gene

Sequence variations from dbSNP and Humsavar for MID1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs581443 -- 10,683,828(+) tacag(G/T)ggcac intron-variant
rs590196 -- 10,697,340(+) TCAGA(A/G)GATGT intron-variant
rs596006 -- 10,662,708(-) TGATG(A/G)CCTCT intron-variant
rs596449 -- 10,662,640(-) ATATC(A/G)AACAT intron-variant
rs596481 -- 10,661,260(-) gtacc(A/T)ttcat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MID1 Gene

Variant ID Type Subtype PubMed ID
dgv500n21 CNV Gain 19592680
esv2670028 CNV Deletion 23128226
esv22291 CNV Loss 19812545
nsv819623 CNV Gain 19587683

Relevant External Links for MID1 Gene

HapMap Linkage Disequilibrium report
MID1
Human Gene Mutation Database (HGMD)
MID1
Locus Specific Mutation Databases (LSDB)
MID1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MID1 Gene

Disorders for MID1 Gene

(1) OMIM Diseases for MID1 Gene (300552)

UniProtKB/Swiss-Prot

TRI18_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for MID1 Gene

(3) Novoseek inferred disease relationships for MID1 Gene

Disease -log(P) Hits PubMed IDs
anomaly congenital multiple 65.9 1
genetic disorder 44.6 1
developmental disabilities 37.7 1

Genatlas disease for MID1 Gene

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

Relevant External Links for MID1

GeneTests
MID1
GeneReviews
MID1
Genetic Association Database (GAD)
MID1
Human Genome Epidemiology (HuGE) Navigator
MID1
genes like me logo Genes that share disorders with MID1: view

Publications for MID1 Gene

  1. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. (PMID: 9354791) Quaderi N.A. … Ballabio A. (Nat. Genet. 1997) 2 3 4 23
  2. The Opitz syndrome gene product, MID1, associates with microtubules. (PMID: 10077590) Schweiger S. … Ropers H.H. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23
  3. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. (PMID: 10400985) Cainarca S. … Meroni G. (Hum. Mol. Genet. 1999) 3 4 23
  4. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. (PMID: 11685209) Trockenbacher A. … Schweiger S. (Nat. Genet. 2001) 3 4 23
  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. (PMID: 11806752) Short K.M. … Cox T.C. (BMC Cell Biol. 2002) 3 4 23

Products for MID1 Gene

Sources for MID1 Gene

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