MID1

Midline 1 (Opitz/BBB syndrome), also known as MID1, is a human gene.cite web | title = Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4281| accessdate = ]

PBB_Summary
section_title =
summary_text = 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. Several different transcript variants are generated by alternate splicing; however, the full length nature of two variants has not been determined.cite web | title = Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4281| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=De Falco F, Cainarca S, Andolfi G, "et al." |title=X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. |journal=Am. J. Med. Genet. A |volume=120 |issue= 2 |pages= 222–8 |year= 2004 |pmid= 12833403 |doi= 10.1002/ajmg.a.10265
*cite journal | author=Robin NH, Feldman GJ, Aronson AL, "et al." |title=Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. |journal=Nat. Genet. |volume=11 |issue= 4 |pages= 459–61 |year= 1996 |pmid= 7493033 |doi= 10.1038/ng1295-459
*cite journal | author=Quaderi NA, Schweiger S, Gaudenz K, "et al." |title=Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. |journal=Nat. Genet. |volume=17 |issue= 3 |pages= 285–91 |year= 1997 |pmid= 9354791 |doi= 10.1038/ng1197-285
*cite journal | author=Perry J, Feather S, Smith A, "et al." |title=The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome. |journal=Hum. Mol. Genet. |volume=7 |issue= 2 |pages= 299–305 |year= 1998 |pmid= 9425238 |doi=
*cite journal | author=Gaudenz K, Roessler E, Quaderi N, "et al." |title=Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. |journal=Am. J. Hum. Genet. |volume=63 |issue= 3 |pages= 703–10 |year= 1998 |pmid= 9718340 |doi=
*cite journal | author=Van den Veyver IB, Cormier TA, Jurecic V, "et al." |title=Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. |journal=Genomics |volume=51 |issue= 2 |pages= 251–61 |year= 1998 |pmid= 9722948 |doi= 10.1006/geno.1998.5350
*cite journal | author=Schweiger S, Foerster J, Lehmann T, "et al." |title=The Opitz syndrome gene product, MID1, associates with microtubules. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 6 |pages= 2794–9 |year= 1999 |pmid= 10077590 |doi=
*cite journal | author=Cainarca S, Messali S, Ballabio A, Meroni G |title=Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. |journal=Hum. Mol. Genet. |volume=8 |issue= 8 |pages= 1387–96 |year= 1999 |pmid= 10400985 |doi=
*cite journal | author=Cox TC, Allen LR, Cox LL, "et al." |title=New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. |journal=Hum. Mol. Genet. |volume=9 |issue= 17 |pages= 2553–62 |year= 2000 |pmid= 11030761 |doi=
*cite journal | author=Reymond A, Meroni G, Fantozzi A, "et al." |title=The tripartite motif family identifies cell compartments. |journal=EMBO J. |volume=20 |issue= 9 |pages= 2140–51 |year= 2001 |pmid= 11331580 |doi= 10.1093/emboj/20.9.2140
*cite journal | author=Liu J, Prickett TD, Elliott E, "et al." |title=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. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 12 |pages= 6650–5 |year= 2001 |pmid= 11371618 |doi= 10.1073/pnas.111154698
*cite journal | author=Trockenbacher A, Suckow V, Foerster J, "et al." |title=MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 287–94 |year= 2001 |pmid= 11685209 |doi= 10.1038/ng762
*cite journal | author=Short KM, Hopwood B, Yi Z, Cox TC |title=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. |journal=BMC Cell Biol. |volume=3 |issue= |pages= 1 |year= 2002 |pmid= 11806752 |doi=
*cite journal | author=Landry JR, Mager DL |title=Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1. |journal=Genomics |volume=80 |issue= 5 |pages= 499–508 |year= 2003 |pmid= 12408967 |doi=
*cite journal | author=Landry JR, Rouhi A, Medstrand P, Mager DL |title=The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter. |journal=Mol. Biol. Evol. |volume=19 |issue= 11 |pages= 1934–42 |year= 2003 |pmid= 12411602 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Winter J, Lehmann T, Suckow V, "et al." |title=Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. |journal=Hum. Genet. |volume=112 |issue= 3 |pages= 249–54 |year= 2003 |pmid= 12545276 |doi= 10.1007/s00439-002-0901-5
*cite journal | author=Granata A, Quaderi NA |title=The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node. |journal=Dev. Biol. |volume=258 |issue= 2 |pages= 397–405 |year= 2003 |pmid= 12798296 |doi=
*cite journal | author=Winter J, Lehmann T, Krauss S, "et al." |title=Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. |journal=Hum. Genet. |volume=114 |issue= 6 |pages= 541–52 |year= 2004 |pmid= 15057556 |doi= 10.1007/s00439-004-1114-x

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