[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS OS-I MET-438 DEL AND PHE-ILE-ASP-SER-GLY-ARG-HIS-LEU-534 INS.
TISSUE=Neuron;
DOI=10.1038/ng1197-285; PubMed=9354791 [NCBI, ExPASy, EBI, Israel, Japan]
Quaderi N.A.,
Schweiger S.,
Gaudenz K.,
Franco B.,
Rugarli E.I.,
Berger W.,
Feldman G.J.,
Volta M.,
Andolfi G.,
Gilgenkrantz S.,
Marion R.W.,
Hennekam R.C.M.,
Opitz J.M.,
Muenke M.,
Ropers H.-H.,
Ballabio A.;
"Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.";
Nat. Genet. 17:285-291(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Placenta;
DOI=10.1093/hmg/7.2.299; PubMed=9425238 [NCBI, ExPASy, EBI, Israel, Japan]
Perry J.,
Feather S.,
Smith A.,
Palmer S.,
Ashworth A.;
"The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome.";
Hum. Mol. Genet. 7:299-305(1998).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Fetal kidney;
DOI=10.1006/geno.1998.5350; PubMed=9722948 [NCBI, ExPASy, EBI, Israel, Japan]
Van den Veyver I.B.,
Cormier T.A.,
Jurecic V.,
Baldini A.,
Zoghbi H.Y.;
"Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.";
Genomics 51:251-261(1998).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT OS-I PRO-626.
TISSUE=Brain;
DOI=10.1093/hmg/9.17.2553; PubMed=11030761 [NCBI, ExPASy, EBI, Israel, Japan]
Cox T.C.,
Allen L.R.,
Cox L.L.,
Hopwood B.,
Goodwin B.,
Haan E.,
Suthers G.K.;
"New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.";
Hum. Mol. Genet. 9:2553-2562(2000).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
DOI=10.1093/emboj/20.9.2140; PubMed=11331580 [NCBI, ExPASy, EBI, Israel, Japan]
Reymond A.,
Meroni G.,
Fantozzi A.,
Merla G.,
Cairo S.,
Luzi L.,
Riganelli D.,
Zanaria E.,
Messali S.,
Cainarca S.,
Guffanti A.,
Minucci S.,
Pelicci P.G.,
Ballabio A.;
"The tripartite motif family identifies cell compartments.";
EMBO J. 20:2140-2151(2001).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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FUNCTION.
DOI=10.1093/hmg/8.8.1387; PubMed=10400985 [NCBI, ExPASy, EBI, Israel, Japan]
Cainarca S.,
Messali S.,
Ballabio A.,
Meroni G.;
"Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle.";
Hum. Mol. Genet. 8:1387-1396(1999).
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[8]
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SUBCELLULAR LOCATION.
DOI=10.1073/pnas.96.6.2794; PubMed=10077590 [NCBI, ExPASy, EBI, Israel, Japan]
Schweiger S.,
Foerster J.,
Lehmann T.,
Suckow V.,
Muller Y.A.,
Walter G.,
Davies T.,
Porter H.,
van Bokhoven H.,
Lunt P.W.,
Traub P.,
Ropers H.H.;
"The Opitz syndrome gene product, MID1, associates with microtubules.";
Proc. Natl. Acad. Sci. U.S.A. 96:2794-2799(1999).
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[9]
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FUNCTION.
DOI=10.1038/ng762; PubMed=11685209 [NCBI, ExPASy, EBI, Israel, Japan]
Trockenbacher A.,
Suckow V.,
Foerster J.,
Winter J.,
Krauss S.,
Ropers H.H.,
Schneider R.,
Schweiger S.;
"MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.";
Nat. Genet. 29:287-294(2001).
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[10]
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INTERACTION WITH IGBP1, AND PHOSPHORYLATION.
DOI=10.1186/1471-2121-3-1; PubMed=11806752 [NCBI, ExPASy, EBI, Israel, Japan]
Short K.M.,
Hopwood B.,
Yi Z.,
Cox T.C.;
"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.";
BMC Cell Biol. 3:1-1(2002).
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[11]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-92 AND SER-98, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V.,
Blagoev B.,
Gnad F.,
Macek B.,
Kumar C.,
Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
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[12]
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STRUCTURE BY NMR OF 87-164.
DOI=10.1016/j.jmb.2006.02.009; PubMed=16529770 [NCBI, ExPASy, EBI, Israel, Japan]
Massiah M.A.,
Simmons B.N.,
Short K.M.,
Cox T.C.;
"Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING.";
J. Mol. Biol. 358:532-545(2006).
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[13]
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VARIANTS OS-I ARG-266 AND THR-536.
DOI=10.1086/302010; PubMed=9718340 [NCBI, ExPASy, EBI, Israel, Japan]
Gaudenz K.,
Roessler E.,
Quaderi N.A.,
Franco B.,
Feldman G.J.,
Gasser D.L.,
Wittwer B.,
Horst J.,
Montini E.,
Opitz J.M.,
Ballabio A.,
Muenke M.;
"Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.";
Am. J. Hum. Genet. 63:703-710(1998).
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[14]
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ERRATUM.
Gaudenz K.,
Roessler E.,
Quaderi N.A.,
Franco B.,
Feldman G.J.,
Gasser D.L.,
Wittwer B.,
Horst J.,
Montini E.,
Opitz J.M.,
Ballabio A.,
Muenke M.;
Am. J. Hum. Genet. 63:1571-1571(1998).
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[15]
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VARIANTS OS-I PRO-295 AND 391-LEU-CYS-392 DELINS ARG.
DOI=10.1002/ajmg.a.30407; PubMed=15558842 [NCBI, ExPASy, EBI, Israel, Japan]
So J.,
Suckow V.,
Kijas Z.,
Kalscheuer V.,
Moser B.,
Winter J.,
Baars M.,
Firth H.,
Lunt P.,
Hamel B.C.J.,
Meinecke P.,
Moraine C.,
Odent S.,
Schinzel A.,
van der Smagt J.J.,
Devriendt K.,
Albrecht B.,
Gillessen-Kaesbach G.,
van der Burgt I., ![]()
Petrij F.,
Faivre L.,
McGaughran J.,
McKenzie F.,
Opitz J.M.,
Cox T.,
Schweiger S.;
"Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.";
Am. J. Med. Genet. A 132:1-7(2005).
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