MID1

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Midline 1 (Opitz/BBB syndrome)
Protein MID1 PDB 2dq5.png
PDB rendering based on 2dq5.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MID1 ; BBBG1; FXY; GBBB1; MIDIN; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY
External IDs OMIM300552 MGI1100537 HomoloGene7837 GeneCards: MID1 Gene
RNA expression pattern
PBB GE MID1 203637 s at tn.png
PBB GE MID1 203636 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4281 17318
Ensembl ENSG00000101871 ENSMUSG00000035299
UniProt O15344 O70583
RefSeq (mRNA) NM_000381 NM_010797
RefSeq (protein) NP_000372 NP_034927
Location (UCSC) Chr X:
10.41 – 10.85 Mb
Chr X:
169.69 – 170.01 Mb
PubMed search [1] [2]

Midline-1 is a protein that in humans is encoded by the MID1 gene.[1][2][3]

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.[3]

Interactions[edit]

MID1 has been shown to interact with MID2.[4][5]

References[edit]

  1. ^ Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A (Dec 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. 
  2. ^ Perry J, Feather S, Smith A, Palmer S, Ashworth A (Mar 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. doi:10.1093/hmg/7.2.299. PMID 9425238. 
  3. ^ a b "Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)". 
  4. ^ 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 (May 2001). "The tripartite motif family identifies cell compartments". EMBO J. (England) 20 (9): 2140–51. doi:10.1093/emboj/20.9.2140. ISSN 0261-4189. PMC 125245. PMID 11331580. 
  5. ^ Short, Kieran M; Hopwood Blair, Yi Zou, Cox Timothy C (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. (England) 3: 1. doi:10.1186/1471-2121-3-1. PMC 64779. PMID 11806752. 

Further reading[edit]

External links[edit]

  • Meroni G (2007-06-20). "X-Linked Opitz G/BBB Syndrome". GeneReviews -- NCBI Bookshelf. the University of Washington, Seattle and the National Center for Biotechnology Information.