Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MID1 Gene

Aliases for MID1 Gene

  • Midline 1 2 3 5
  • 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
  • RNF59 3 4
  • XPRF 3 4
  • FXY 3 4
  • Zinc Finger On X And Y, Mouse, Homolog Of 3
  • Tripartite Motif Protein TRIM18 3
  • Midline 1 RING Finger Protein 3
  • EC 6.3.2.- 4
  • BBBG1 3
  • GBBB1 3
  • ZNFXY 3
  • OGS1 3
  • OSX 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 X-Linked Opitz G/Bbb Syndrome. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Immune System. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is TRIM13.

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

Enhancers for MID1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MID1 on UCSC Golden Path with GeneCards custom track

Promoters for MID1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MID1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MID1 Gene

Chromosome:
X
Start:
10,445,310 bp from pter
End:
11,111,177 bp from pter
Size:
665,868 bases
Orientation:
Minus strand

Genomic View for MID1 Gene

Genes around MID1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MID1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for MID1 Gene

Suggested Antigen Peptide Sequences for MID1 Gene

Graphical View of Domain Structure for InterPro Entry

O15344

UniProtKB/Swiss-Prot:

TRI18_HUMAN :
  • Contains 1 B30.2/SPRY domain.
  • Belongs to the TRIM/RBCC family.
  • Contains 2 B box-type zinc fingers.
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:0008017 microtubule binding IMP 11806752
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with MID1: view
genes like me logo Genes that share phenotypes with MID1: view

Human Phenotype Ontology for MID1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 5

Gene Ontology (GO) - Cellular Components for MID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MID1: view

Pathways & Interactions for MID1 Gene

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

Pathways by source for MID1 Gene

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 --
genes like me logo Genes that share ontologies with MID1: view

No data available for SIGNOR curated interactions for MID1 Gene

Drugs & Compounds for MID1 Gene

(3) Drugs for MID1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for MID1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with MID1: view

Transcripts for MID1 Gene

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

Protein differential expression in normal tissues from HIPED for MID1 Gene

This gene is overexpressed in Breast (19.3), Lung (9.2), Fetal Brain (8.8), and Urinary Bladder (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MID1: view

Protein tissue co-expression partners for MID1 Gene

Primer 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
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 Mid1 35
  • 88.71 (n)
  • 95.2 (a)
Gm21857 36
  • 90 (a)
OneToMany
Mid1 36
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mid1 35
  • 92.05 (n)
  • 99.1 (a)
oppossum
(Monodelphis domestica)
Mammalia MID1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MID1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MID1 36
  • 100 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia mid1 35
  • 79.68 (n)
  • 92.94 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13388 35
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

(6) 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
VAR_013758 Opitz GBBB syndrome 1 (GBBB1)
VAR_013761 Opitz GBBB syndrome 1 (GBBB1)
rs28934611 Opitz GBBB syndrome 1 (GBBB1) 10,449,495(-) CCACC(C/T)CTACA reference, missense
VAR_025495 Opitz GBBB syndrome 1 (GBBB1)
rs747672936 -- 10,709,387(+) TATCA(C/T)GTGTG 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

Variation tolerance for MID1 Gene

Residual Variation Intolerance Score: 5.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MID1 Gene

Human Gene Mutation Database (HGMD)
MID1

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

Disorders for MID1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for MID1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
opitz gbbb syndrome, type i
  • hypertelorism with esophageal abnormality and hypospadias
x-linked opitz g/bbb syndrome
  • opitz syndrome, x-linked
opitz-gbbb syndrome
  • opitz g/bbb syndrome
developmental disabilities
hypospadias
  • familial hypospadias
- elite association - COSMIC cancer census association via MalaCards
Search MID1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRI18_HUMAN
  • Opitz GBBB syndrome 1 (GBBB1) [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.

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

Genetic Association Database (GAD)
MID1
Human Genome Epidemiology (HuGE) Navigator
MID1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Alpha4 is a ubiquitin-binding protein that regulates protein serine/threonine phosphatase 2A ubiquitination. (PMID: 20092282) McConnell J.L. … Wadzinski B.E. (Biochemistry 2010) 3 23
  3. The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex. (PMID: 18172692) Aranda-OrgillAcs B. … Schweiger S. (Hum. Genet. 2008) 3 23
  4. MID1 mutations in patients with X-linked Opitz G/BBB syndrome. (PMID: 18360914) Fontanella B. … Meroni G. (Hum. Mutat. 2008) 3 23
  5. Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A. (PMID: 18949047) Aranda-OrgillAcs B. … Schweiger S. (PLoS ONE 2008) 3 23

Products for MID1 Gene

Sources for MID1 Gene

Content