MID1

From Wikipedia, the free encyclopedia

Midline 1 (Opitz/BBB syndrome)

PDB rendering based on 2dq5.

Available structures: 2dq5, 2ffw

Identifiers

Symbol(s)

MID1; BBBG1; FXY; GBBB1; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY

External IDs

OMIM: 300552 MGI: 1100537 HomoloGene: 7837

Gene ontology
Molecular Function:	• protein binding • zinc ion binding • ligase activity • metal ion binding
Cellular Component:	• intracellular • microtubule • microtubule associated complex
Biological Process:	• microtubule cytoskeleton organization and biogenesis • ubiquitin cycle • negative regulation of microtubule depolymerization • pattern specification process • anatomical structure morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000381 (mRNA)
NP_000372 (protein)

XM_001004669 (mRNA)
XP_001004669 (protein)

Location

Chr X: 10.37 - 10.76 Mb

n/a

Pubmed search

[1]

[2]

Midline 1 (Opitz/BBB syndrome), also known as MID1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome).

[edit] Further reading

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