MID1

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MID1
Protein MID1 PDB 2dq5.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MID1, BBBG1, FXY, GBBB1, MIDIN, OGS1, OS, OSX, RNF59, TRIM18, XPRF, ZNFXY, midline 1
External IDs MGI: 1100537 HomoloGene: 7837 GeneCards: MID1
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]
X chromosome (human)
Genomic location for MID1
Genomic location for MID1
Band Xp22.2 Start 10,445,310 bp[1]
End 10,833,654 bp[1]
RNA expression pattern
PBB GE MID1 203637 s at fs.png

PBB GE MID1 203636 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)

NP_001277433
NP_001277434
NP_001277435
NP_001277441
NP_034927

Location (UCSC) Chr X: 10.45 – 10.83 Mb Chr X: 169.69 – 170.01 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Midline-1 is a protein that in humans is encoded by the MID1 gene.[5][6][7]

Function[edit]

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.[7]

Interactions[edit]

MID1 has been shown to interact with MID2.[8][9]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101871 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035299 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ a b "Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)". 
  8. ^ 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 PG, Ballabio A (May 2001). "The tripartite motif family identifies cell compartments". EMBO J. 20 (9): 2140–51. doi:10.1093/emboj/20.9.2140. PMC 125245Freely accessible. PMID 11331580. 
  9. ^ 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. doi:10.1186/1471-2121-3-1. PMC 64779Freely accessible. 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.