Property Summary

NCBI Gene PubMed Count 63
PubMed Score 42.89
PubTator Score 96.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 1.200 7.6e-07
glioblastoma multiforme 1.100 2.1e-12
osteosarcoma 1.381 2.2e-02
astrocytoma 1.200 4.9e-02
atypical teratoid / rhabdoid tumor 1.200 2.3e-02
chronic kidney disease 1.300 1.8e-02
breast carcinoma -1.500 9.1e-28
group 3 medulloblastoma 1.400 4.1e-03
Breast cancer -2.900 1.4e-09
invasive ductal carcinoma -2.100 6.7e-03
Pick disease 1.300 3.2e-04
ductal carcinoma in situ -1.300 8.8e-04
ovarian cancer 1.600 6.9e-05

 GWAS Trait (1)

Gene RIF (38)

PMID Text
25981737 TRAIL regulates MID1 and TSLP, inflammation, fibrosis, smooth muscle hypertrophy, and expression of inflammatory effector chemokines and cytokines in experimental eosinophilic esophagitis.
25874572 A130T/V mutations within the MID1 zinc-binding Bbox1 domain affects protein folding.
25728276 Results revealed S422 as a novel phosphorylation site of Osx and GSK-3b played an important role in regulating the protein stability and transactivational activity of Osx.
25304119 A familial c.1102C>T (p.R368X) mutation in the MID1 gene, is reported.
25278022 Fu ubiquitination and cleavage is one of the key elements connecting the MID1-PP2A protein complex with GLI3 activity control
25216264 These studies provide insight into the mechanism by which mutations observed in X-linked Opitz G syndrome affect the structure and function of the MID1 Bbox1 domain
25207814 MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac in X-linked Opitz syndrome.
24913494 Promotion of AR, in addition to enhancement of the Akt-, NFkappaB-, and Hh-pathways by sustained MID1-upregulation during androgen deprivation therapy provides a powerful proliferative scenario for PCa progression into castration resistance
24484909 In prostate cancer cells the inhibitory effect of metformin was mimicked by disruption of MID1 translational regulator complex.
24321989 Two patients with underdeveloped arcuate fasciculus had novel, nonsynonymous variants in MID1 and EN2 genes regulating axon guidance pathway.
23791568 for the first time within the MID1 gene, a complex rearrangement composed of two deletions, an inversion and a small insertion that may suggest the involvement of concurrent non-homologous mechanisms in the generation of the observed structural variant.
23443539 expanded CAG repeats bind to a translation regulatory protein complex containing MID1, protein phosphatase 2A and 40S ribosomal S6 kinase.
23334847 found that MID1 was upregulated in primary human bronchial epithelial cells
21930711 Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1).
21555591 mTORC1 signaling as a downstream pathway regulated by the MID1/PP2A axis, suggesting that mTORC1 plays a key role in Opitz syndrome pathogenesis.
21326312 Our finding suggests that hypospadias associated with hypertelorism is the mildest phenotype in OS caused by MID1 mutations.
21296087 These studies shed light on MID1 E3 ligase activity and show how its three zinc-binding domains can contribute to MID1's overall function.
19049519 Non-random tranmission of MID1 haplotypes in male non-syndromic cleft lip with or without cleft palate patients was observed.
19049519 Observational study of gene-disease association. (HuGE Navigator)
18949047 Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A.
18697196 A new MID1 mutation leading to a premature stop codon was found in patients with Opitz G/BBB syndrome.
18360914 reviewed all the MID1 mutations reported so far, in both familial and sporadic cases. The mutations are scattered along the entire length of the gene
18220417 Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.
18172692 Mutant MID1 proteins cannot bind EF-1alpha and results in the development of the ventral midline in Opitz syndrome patients
18005432 MID1 expression is tightly regulated through concerted action of alternative promoters and alternative polyadenylation signals both during embryonic development and in the adult.
17672918 the apparent occurrence of an unusual TG 3' splice site in intron 9 is discussed
17428496 The tertiary structure of the B-box2 (CHC(D/C)C(2)H(2)) domain from MID1, is reported using multidimensional nuclear magnetic resonance spectroscopy.
17221865 Twenty-nine novel mutations are associated with Opitz G/BBB Syndrome.
17043407 a novel insertion mutation (c.1798_1799-insC)in MID1 gene was identified; first report on a genetically confirmed case of X-linked Opitz G/BBB syndrome in Korea
16378742 FibronectinIII domain of the MID1 protein may be involved in midline differentiation after neural tube and palatal structures are completed.
12833403 Novel mutations are described in the MID1 gene, particularly in the 3' flanking region.
12798296 The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node.
12545276 identified a duplication of the MID1 first exon in a patient with X-linked Opitz G/BBB syndrome
12411602 These searches revealed a fusion transcript containing the LTR of an HERV-E element linked to the Opitz syndrome gene Mid1
12411602 Mid1 is transcribed from a human endogenous retroviral promoter
12408967 Widely spaced alternative promoters, conserved between human and rodent, control the expression of Mid1
11806752 MID1 coiled-coil motifs mediate both homo- and heterodimerization, a prerequisite for association of the MID-alpha 4 complex with microtubules.
11685209 PP2Ac accumulation is caused by an impairment of a newly identified E3 ubiquitin ligase activity of the MID1 protein

AA Sequence

METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGL      1 - 70
DGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVS     71 - 140
YCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVA    141 - 210
ALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQII    211 - 280
GTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLI    281 - 350
PEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTI    351 - 420
FTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDP    421 - 490
KSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYK    491 - 560
SAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFD    561 - 630
VAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP                                     631 - 667
//

Text Mined References (68)

PMID Year Title
25981737 2015 TNF-related apoptosis-inducing ligand (TRAIL) regulates midline-1, thymic stromal lymphopoietin, inflammation, and remodeling in experimental eosinophilic esophagitis.
25874572 2015 Molecular dynamics simulation reveals insights into the mechanism of unfolding by the A130T/V mutations within the MID1 zinc-binding Bbox1 domain.
25728276 2015 Phosphorylation of Serine422 increases the stability and transactivation activities of human Osterix.
25416956 2014 A proteome-scale map of the human interactome network.
25304119 2015 R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.
25278022 2014 The E3 ubiquitin ligase MID1 catalyzes ubiquitination and cleavage of Fu.
25216264 2014 XLOS-observed mutations of MID1 Bbox1 domain cause domain unfolding.
25207814 2014 MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.
24913494 2014 A hormone-dependent feedback-loop controls androgen receptor levels by limiting MID1, a novel translation enhancer and promoter of oncogenic signaling.
24484909 2014 Metformin anti-tumor effect via disruption of the MID1 translational regulator complex and AR downregulation in prostate cancer cells.
24321989 2014 Exome sequencing and diffusion tensor imaging in developmental disabilities.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23791568 2013 Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.
23443539 2013 Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex.
23334847 2013 The E3 ubiquitin ligase midline 1 promotes allergen and rhinovirus-induced asthma by inhibiting protein phosphatase 2A activity.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22829933 2012 TRIM27 negatively regulates NOD2 by ubiquitination and proteasomal degradation.
22613722 2012 Monoubiquitination promotes calpain cleavage of the protein phosphatase 2A (PP2A) regulatory subunit ?4, altering PP2A stability and microtubule-associated protein phosphorylation.
22493164 2012 Systematic analysis of dimeric E3-RING interactions reveals increased combinatorial complexity in human ubiquitination networks.
21930711 2011 Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1).
21555591 2011 Control of mTORC1 signaling by the Opitz syndrome protein MID1.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21326312 2011 Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.
21296087 2011 Detection and characterization of the in vitro e3 ligase activity of the human MID1 protein.
19734545 2009 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
19549727 2009 Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19049519 2008 Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study.
18949047 2008 Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A.
18697196 2008 Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18360914 2008 MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
18220417 2008 Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.
18172692 2008 The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex.
18005432 2007 Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz Syndrome gene MID1.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
17438131 2007 Cytokine activation of p38 mitogen-activated protein kinase and apoptosis is opposed by alpha-4 targeting of protein phosphatase 2A for site-specific dephosphorylation of MEK3.
17428496 2007 Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.
17221865 2007 MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17043407 2006 X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
16529770 2006 Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING.
16498413 2006 Structural and functional insights into the B30.2/SPRY domain.
16378742 2006 A structure-function study of MID1 mutations associated with a mild Opitz phenotype.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15558842 2005 Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057556 2004 Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12833403 2003 X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
12798296 2003 The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node.
12545276 2003 Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12411602 2002 The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter.
12408967 2002 Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1.
11806752 2002 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.
11685209 2001 MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.
11371618 2001 Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.
11331580 2001 The tripartite motif family identifies cell compartments.
11030761 2000 New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
10400985 1999 Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle.
10077590 1999 The Opitz syndrome gene product, MID1, associates with microtubules.
9722948 1998 Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.
9718340 1998 Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
9425238 1998 The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome.
9354791 1997 Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
7493033 1995 Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.